Term
| Genetic material must meet which criteria? |
|
Definition
1. information
2. replication
3. transmission
4. variation |
|
|
Term
| are DNA and RNA built of the same thing? |
|
Definition
|
|
Term
| levels of DNA and RNA structure: |
|
Definition
nucleotides are the building blocks
a strand of DNA or RNA
two strands form a double helix
--> chromosomes ---> genome |
|
|
Term
|
Definition
|
|
Term
| what is the term for the complete complement of an organism's genetic material? |
|
Definition
|
|
Term
| what are the three components of nucleotides? |
|
Definition
phosphate group
pentose sugar
nitrogenous base
|
|
|
Term
| for DNA, you know its got the phosphate group. but what is the pentose sugar and what are the nitrogenous bases? |
|
Definition
Pentose sugar: deoxyribose
nitrogenous bases:
purines: adenine and guanine
pyrimidines: cytosine and thymine |
|
|
Term
for DNA, you know its got the phosphate group. but what is the pentose sugar and what are the nitrogenous bases?
|
|
Definition
pentose sugar: ribose
nitrogenous bases:
purines: adenine and guanine
pyrimidines: cytosine and uracil |
|
|
Term
| describe the conventional numbering system for DNA and RNA |
|
Definition
the sugar carbons are from 1' to 5'
the base is attached to 1'
the phosphate is attached to 5' |
|
|
Term
| how are the nucleotides bonded? |
|
Definition
covalently
(the phosphodiester bond is the link between two sugars held together by phosphate groups) |
|
|
Term
| describe the structure of the DNA |
|
Definition
phosphates and sugars form the backbone; bases project from the backbone
the directionality is from 5' to 3'
5' -TACG - 3' |
|
|
Term
| general trends in the content of DNA of various organisms |
|
Definition
there is the most of the adenine-thymine and then less of the guanine-cytosine
also, the amount of thymine and adenine are similar. then the amount of cytosine and guanine are similar. |
|
|
Term
|
Definition
its double stranded
its helical
its got the sugar phosphate backbone with the bases on the inside
its stabilized by hydrogen bonding
the base pairs are specifically bonded to each other |
|
|
Term
| What does Chargoff's rule tell us? what are the implications? |
|
Definition
A pairs with T
G pairs with C
--> the widths are kept constant, and there are 10 base pairs per turn |
|
|
Term
| strands being complementary vs strands are antiparallel |
|
Definition
two of the strands are complementary
– 5’–GCGGATTT–3’
– 3’–CGCCTAAA–5’
two of the strands are antiparallel: one strand goes 5' to 3' and the other strand goes 3' to 5' |
|
|
Term
| What's up with these grooves in the DNA? |
|
Definition
the space filling model shows grooves
the major groove is where proteins bind and affect gene expression
then there is also the minor groove
|
|
|
Term
| describe what occurs in semiconservative replication |
|
Definition
during replication, 2 parental strands separate and serve as template strands
then new nucleotides must obey the AT/GC rule
the end result is 2 new double helices with the same base sequence as the original |
|
|
Term
what does origin of replication mean?
how do bacteria and eukaryotes differ? |
|
Definition
its the site of the start point for replication
bacteria have a single origin
eukaryotes require multiple origins |
|
|
Term
| how does replication proceed? |
|
Definition
| bidirectionally- replication proceeds outwards in opposite directions |
|
|
Term
| how does the origin of replication serve in DNA replication? |
|
Definition
| the origin of replication provides an opening called a replication bubble that forms two replication forks; DNA replication proceeds outwards from these forks |
|
|
Term
| what is the name of the protein at the centromere? |
|
Definition
|
|
Term
| what does DNA helicase do? |
|
Definition
| binds to DNA and travels from 5' to 3' using ATP to separate strand and move the fork forwards |
|
|
Term
| what does DNA topoisomerase do? |
|
Definition
| relieves the additional coiling ahead of the replication fork |
|
|
Term
| what do single-strand binding proteins do? |
|
Definition
| keep parental strands open to act as templates |
|
|
Term
| what does DNA polymerase do? |
|
Definition
covalently links nucleotides
so... the incoming deoxynuceloside triphosphates go through the DNA polymerase, and then at the DNA polymerase catalytic site they are binded together and out comes the template strand (exits in the same direction that the deoxynucleoside triphosphates come in)
|
|
|
Term
| deoxynuceloside triphosphates: what are they and what do they do? |
|
Definition
they are free nucleotides with 3 phosphate groups
there is the breaking of covalent bond to release pyrophosphate (2 phosphate groups) provides the energy to connect adjacent nucleotides |
|
|
Term
| what are the two other enzymatic features of DNA polymerase? |
|
Definition
1. DNA polymerase is unable to begin DNA synthesis on a bare template strand
-DNA primase must make a short RNA primer that will be removed and replaced with DNA later
2. DNA polymerase can only work 5' to 3' |
|
|
Term
| what does gene regulation refer to? |
|
Definition
| the ability of cells to control their level of gene expression |
|
|
Term
| what is the name for the type of genes that are unregulated? |
|
Definition
| constitutive genes (have essentially constant levels of expression) |
|
|
Term
| t/f: most of genes are constitutive genes? |
|
Definition
| FALSE! the majority of genes are regulated so proteins are only produced at certain times and in specific amounts |
|
|
Term
| name two benefits of gene regulation |
|
Definition
1. conserves energy
2. ensure genes expressed in appropriate cell type and at the correct stage in development |
|
|
Term
| overview: gene regulation in E.coli |
|
Definition
when lactose ecomes present, the B-galactos-i-dase breaks down lactose, and it (lactose) can be transported into the cell via lactose permease
due to gene regulation, the bacterium produces more lactose permease and B-galactosidase
the bactertia uses the lactose until it is gone and the proteins incolved with lactose are degraded |
|
|
Term
| where does bacterial gene regulation most commonly occur? |
|
Definition
at the level of transcription!
also can control the rate that mRNA is translated or the protein/post-translation level |
|
|
Term
| what do regulatory transcription factors do? |
|
Definition
| bind to DNA in the vicinity of a promoter and affect transcription of one or more nearby genes |
|
|
Term
| regressors vs. activators |
|
Definition
repressors: inhibit transcription
activators: increase the rate of transcription |
|
|
Term
| describe what happens when an activator protein binds near a promoter |
|
Definition
| the RNA polymerase (doesn't need primer) can bind and transcribe, creating mRNA |
|
|
Term
| what do effector molecules do? |
|
Definition
| help regulate transcription by binding to regulatory transcription factor and causing conformational change (determining whether regulatory transcription factor can bind to DNA) |
|
|
Term
| what are the two domains in regulatory transcription factors that respond to small effector molecules? |
|
Definition
a. a site where protein binds to DNA
b. a site for small effector molecules |
|
|
Term
|
Definition
| in bacteria its a cluster of genes under transciptional control of one promoter |
|
|
Term
| what is the regulatory region of the operon called? |
|
Definition
|
|
Term
| what is the operon transcribed as? and what does it allow for? |
|
Definition
transcribed as polycistronic mRNA
allows for regulation of a group of genes with a common function |
|
|
Term
|
Definition
| binds to DNA and travels 5' --> 3' using ATP to separate strand and move fork forward |
|
|
Term
|
Definition
| relieves additional coiling ahead of replication fork |
|
|
Term
| single strand binding proteins |
|
Definition
| keep parental strands open to act as templates |
|
|
Term
| what does DNA polymerase link together to create duplicate DNA strand |
|
Definition
| deoxynucleoside triphosphates (free nucleotides with three phosphate groups; breaking covalent bond to release pyrophosphate (2 phosphate groups) provides energy to connect adjacent nucleotides |
|
|
Term
| 2 enzymatic features of DNA polymerase |
|
Definition
can't begin DNA synthesis on bare template strand (DNA primase must make short RNA primer that is later removed and replaced with DNA) DNA polymerase can only work 5' to 3' |
|
|
Term
| in both strands, what removes the RNA primers? what joins adjacent DNA fragments? |
|
Definition
|
|
Term
| two components of the lagging strand's Okazaki fragments: |
|
Definition
short RNA primer made by DNA primase at 5' end DNA laid down by DNA polymerase |
|
|
Term
| proofreading function of DNA polymerase |
|
Definition
| removes mismatched pairs by backing up and digesting linkages in 3' to 5' exonuclease activity |
|
|
Term
|
Definition
series of short nucleotide sequences repeated at the ends of eukaryotic chromosomes; in humans it is TTAGGG and its repeated about 2,500 times; each division it loses 50-200 bp of the telomeres, and so after 20-30 divisions, apoptosis occurs
but! in special continually dividing cells, like gametes producing cells and bone marrow stem cells, telomerase adds lost telomeric sequences (telomerase contains an RNA sequence that acts as a template for the telomeric DNA repeat sequence and reverse transcriptase) |
|
|
Term
|
Definition
| does not have a complementary strand and is called a 3' overhang |
|
|
Term
| solution to replication problem at 3' end of DNA |
|
Definition
DNA polymerase cannot copy the tip of the DNA strand with 3' end, so linear chromosomes would become progressively shorter
*but! telomerase is an enzyme that attaches many copies of DNA repeat sequence to the ends of chromosomes OF CONTINUOUSLY DIVIDING CELLS (like bone marrow stem cells and gamete producing cells) ; progressive shortening of telomeres are correlated with cellular senescence; telomerase function is reduced as organism ages and 99% of all types of human cancers have high levels of telomerase
telomerase contains an RNA molecule used as a template and reverse transcriptase in humans, the repeated sequence is TTAGGG in humans and its repeated about 2,500 times |
|
|
Term
| chromosomes are composed of what? |
|
Definition
| chromatin (DNA / protein complex) |
|
|
Term
| 3 levels of DNA compacting (overview) |
|
Definition
1. DNA wrapped around positively charged histones to form nucleosome, thus shortening length of DNA molecule 7 fold. 2. 30 nm fiber- asymmetric, 3d zigzag of nucleosomes, shortens length another 7 fold 3. radial loop domains |
|
|
Term
| breaking down the numbers with DNA compaction |
|
Definition
nucleosome= 8 histone proteins and 146 or 147 nucleotide base pairs of DNA; loop held wrapped together by H1; linker region is 50 DNA base pairs between histones
radial loop domains- interaction between 30 nm fibers and nuclear matrix; each chromosomes is located in discreet territory- more tight is heterochromatin, less tight is euchromatin. |
|
|
Term
| detail of radial loop domain |
|
Definition
involves chromosome scaffold, made up of lamins (structural) and the topoisomerases (relieve supercoiling tension)
The 30 nm solenoid is anchored to the chromosome scaffold at discrete sites called Scaffold Attachment Regions (SARs) and are organized into Radial Loop Domains of variable length. |
|
|
Term
|
Definition
|
|
Term
| sets of chromosomes in humans |
|
Definition
| we have 23 pairs of chromosomes or 46 total chromosomes (22 pairs of autosomes, 1 pair of sex chromosomes) |
|
|
Term
| how do sex and autosomal chromosomes differ from each other? |
|
Definition
| autosomal chromosomes are homologous with their pair (in terms of size and genetic composition), but X and Y sex chromosomes are very different in size and composition |
|
|
Term
| a human cell in G1 has how many chromosomes? and in G2? |
|
Definition
in G1: 46 chromosomes
in G2: have 46 pairs of sister chromatids, or 96 chromatids |
|
|
Term
| decision to divide: based on what external and internal factors: |
|
Definition
external: environmental conditions, signaling molecules
internal: cell cycle control molecules, checkpoints |
|
|
Term
|
Definition
cyclin dependent kinases (remember, amount of cyclin is what varies throughout cycle); kinases must be bound to cyclin to be active
cyclin:
myotic cyclin active at G2/M check point, is degraded through mitosis
G1 cyclin is present during mid G1 / S restriction point- is degraded after cell enters S phase |
|
|
Term
| restriction point refers to what? |
|
Definition
| the G1 checkpoint (as opposed to the G2 checkpoint or the metaphase checkpoint) |
|
|
Term
| loss of checkpoint function leads to what? |
|
Definition
|
|
Term
| asexual reproduction is achieved by what process? |
|
Definition
|
|
Term
| what is responsible for chromosome segregation? what is it made of? |
|
Definition
miotic spindle apparatus composed of microtubules
|
|
|
Term
| what is the equivalent of a centrosome in plants? |
|
Definition
| a microtubule organizing center |
|
|
Term
|
Definition
animal cells only (not in many other eukaryotes)
2 centrioles per centrosome |
|
|
Term
| what are the kind of proteins making up spindle microtubules? what are the three kinds of microtubules? |
|
Definition
tubulin proteins
astral, polar, kinetochore |
|
|
Term
| interphase: where are the chromosomes and what do they look like? |
|
Definition
| found decondensed in the nucleus |
|
|
Term
| during what phase does the nuclear membrane dissociate into small vessicle? |
|
Definition
|
|
Term
| during what phase do chromatids condense into highly compacted structures that are readily visible by light microscopy? |
|
Definition
|
|
Term
| during what phase does the nuclear envelope completely fragment? |
|
Definition
|
|
Term
| during what phase does the mitotic spindle fully form? |
|
Definition
|
|
Term
| during what phase do centromeres move apart and demarcate the two poles |
|
Definition
|
|
Term
| during what phase do kinetochore microtubules attach to kinetochores on the sister chromatids? |
|
Definition
|
|
Term
| during what phase are pairs of sister chromatids aligned in a plane halfway between the poles into a single row? |
|
Definition
|
|
Term
| during what phase do connections between the pairs of sister chromatids become broken, thus moving to the pole that they are attached to? |
|
Definition
|
|
Term
| why do the two poles of the centrosome move farther from each other during anaphase? |
|
Definition
| polar microtubules lengthen and push against one another |
|
|
Term
| what two mechanisms occur to move the chromosomes along? |
|
Definition
75% of force: kinetochores contain protein called cytoplasmic dynein that hydrolyzes ATP to ADP and phosphate, releasing energy 25% of force: kinetochore microtubules shorten from the poles, drawing the chromosomes towards them |
|
|
Term
| during what phase do chromosomes decondense |
|
Definition
|
|
Term
| during what phase do nuclear membranse reform into two separate nuclei |
|
Definition
|
|
Term
| difference between cytokinesis in animal and plant cells |
|
Definition
animal cells: cleavage furrow (with contractile ring made of actin) constricts like a drawstring to separate the cells plant cells: cell plate forms a cell wall between the two daughter cells
|
|
|
Term
| what are the two key differences between mitosis and meiosis? |
|
Definition
| in meiosis: homologous pairs form a bivalent or tetrad, and crossing over occurs |
|
|
Term
| what is the process by which homologous pairs of sister chromatids associate with each other to form a bivalent or tetrad |
|
Definition
| synapsis (only during meiosis) |
|
|
Term
| is the synaptonemal complex required for the pairing of homologous chromosomes? |
|
Definition
|
|
Term
|
Definition
physical exchange between chromosome pieces of the crossing bivalent; increases genetic variation chiasma: arms of the chromosomes tend to separate but remain adhered at a crossover site (number of crossovers is carefully controlled by cells) |
|
|
Term
| when specifically does crossing over occur? |
|
Definition
| during pachynema of prophase I |
|
|
Term
|
Definition
| during prophase I (because this is also where crossing over needs to occur) |
|
|
Term
| describe the segregation of homologues in anaphase I |
|
Definition
| connections between bivalents break, but not the connections that hold sister chromatids together- each joined pair of chromatids migrates to one pole, and the homologous pair of chromatids moves to the opposite pole |
|
|
Term
| is there an S phase between meiosis I and meiosis II? |
|
Definition
|
|
Term
| when are sister chromatids separated during meiosis? |
|
Definition
|
|
Term
| chromosomes are identified by: |
|
Definition
-size -location of centromere -banding pattern |
|
|
Term
|
Definition
short arm (on top) is p, long arm is q metacentric= middle submetacentric= off center acrocentric= near end telocentric= at the end |
|
|
Term
| what gives banding pattern (G banding)? |
|
Definition
| giemsa stain (binds to a lot of adenine-thymine pairing) |
|
|
Term
| overview: name the 5 types of chromosomal mutations |
|
Definition
| deletions, duplications, inversions, simple or reciprocal translocations |
|
|
Term
|
Definition
| removes a segment of chromosome |
|
|
Term
|
Definition
| doubles a particular region |
|
|
Term
|
Definition
| flips a region to the opposite orientation |
|
|
Term
|
Definition
| moves a segment of 1 chromosome to a different chromosome |
|
|
Term
|
Definition
| exchange of pieces between 2 different chromosomes |
|
|
Term
| what is the term for the chromosome number that is viewed as the normal number? |
|
Definition
|
|
Term
|
Definition
| 3 or more sets of chromosomes (triploid, tetraploid, or more) |
|
|
Term
| what is the term for having normal 2 copies plus 1? normal 2 copies minus 1? |
|
Definition
|
|
Term
| gender, species differences in diploidy |
|
Definition
male bees are haploid, female bees are diploid
plants exhibit polyploidy (agriculture example of wheat)
|
|
|
Term
| why is trisomy and monosomy bad: |
|
Definition
| it results in an imbalance in the level of gene expression interfering with proper cell function |
|
|
Term
statistics with aneuploidy
About ?% of all fertilized human eggs
result in an embryo with an abnormality in
chromosome number
• Approximately ?% of all spontaneous
abortions are due to alterations in
chromosome number
|
|
Definition
|
|
Term
| name the three autosomal trisomies you can survive with in order of frequency of survival |
|
Definition
Downs- trisomy 21- 1/800
Edward- trisomy 18- 1/6,000
Patau- trisomy 13- 1/15,000
|
|
|
Term
what is the name for each of the following sex chromosomal conditions
XXY
XYY
XXX
XO |
|
Definition
XXY: Kleinfelter (male)
XYY: Jacobs (male)
XXX: Triple X (females)
XO: Turner (females) |
|
|
Term
| genes and alleles: what is the unit factor of the particulate theory of inheritance? how many genes does an individual have for a character? generally what does particulate inheritance say anyway? |
|
Definition
genes
2 genes for a character (one on each chromosome)
Particulate Model:
- Offspring are a combination of both parents
- The characteristics of both parents are passed on to the next generation as separate entities
- Variation is maintained over time[3]
|
|
|
Term
| describe Mendel's law of segregation |
|
Definition
| 2 copies of a gene segregate from each other during the transmission from parent to offspring |
|
|
Term
| definition of genotype vs. phenotype |
|
Definition
genotype: genetic composition of individual
phenotype: characteristics that are the result of gene expression |
|
|
Term
| what are the two possible patterns that could be determined with the two factor cross? |
|
Definition
• Possible patterns
–2 genes linked so that variants found together
in parents are always inherited as a unit
–2 genes are independent and randomly
distributed |
|
|
Term
|
Definition
offspring are hybrids
with respect to both traits
|
|
|
Term
Law of Independent Assortment |
|
Definition
Alleles of different genes assort independently
of each other during gamete formation |
|
|
Term
At meiosis, one member of each chromosome
pair segregates into one daughter nucleus and... |
|
Definition
its homologue segregates into the other
daughter nucleus. During the formation of
haploid cells, the members of different
chromosome pairs segregate independently of
each other.
|
|
|
Term
what leads to the independent
assortment of alleles found on different
chromosomes |
|
Definition
Random alignment of chromosome pairs
during meiosis I |
|
|
Term
|
Definition
| is an autosomal recessive trait (about 3% of european americans are heterozygous carriers and phenotypically normal (homozygous exhibit disease symptoms)) |
|
|
Term
|
Definition
| autosomal dominant disease (an infected individual will have an infected parent) |
|
|
Term
|
Definition
| In humans X chromosome is larger, contains more genes that the Y; genes found on the X but not the Y are X-linked genes; males are HEMI-zygous for X linked genes |
|
|
Term
|
Definition
caused by recessive X linked gene, encodes defective clotting pattern;
females only can be carriers if father is not infected, but if mother is a carrier, the son will be infected.

|
|
|
Term
|
Definition
pattern that occurs when the heterozygote has a phenotype intermediate to the phenotypes of the homozygotes (4 o'clock flower); 50% of the protein encoded by the functional wildtype allele is not sufficient to produce the normal trait
neither allele is dominant
50% of the protein produced is not enough to give red color
|
|
|
Term
|
Definition
pattern that occurs when the heterozygote expresses both alleles simultaneously; blood type example; carrying A and B alleles results in the expression of both A and B antigens on the blood
|
|
|
Term
| sex influenced inheritance |
|
Definition
pattern that occurs when an allele is dominant in one sex and recessive in another, such as pattern balding in humans
this is because sex hormones affect the molecular expression of genes, which can have an impact on the phenotype |
|
|
Term
| overview: name 5 recessive human genetic diseases |
|
Definition
| phenylketonuria, cystic fibrosis, tay-sachs disease, alpha-1 antitrypsin deficiency, hemophilia A |
|
|
Term
| Produced by the normal gene: phenylketonuria |
|
Definition
phenylalanine hydroxylase (can't metabolize phenylalanine --> mental retardation, physical degeneration; need to not eat phenylalanine early in life) * heterozygotes appear phenotypically normal but heterozygotes have double the normal phenylalanine levels |
|
|
Term
| Produced by the normal gene: cystic fibrosis |
|
Definition
| a chloride ion transporter (can't balance ions in epithelial cells --> lung problems) |
|
|
Term
| Produced by the normal gene: tay sachs disease |
|
Definition
| hexosaminidase A- defect in lipid metabolism- leads to paralysis, blindness, and early death |
|
|
Term
| Produced by the normal gene: alpha-I antitrysin |
|
Definition
| inability to prevent the activity of protease enzymes; leads to a buildup of certain proteins that cause liver damage and emphysema |
|
|
Term
| Produced by the normal gene: hemophilia A |
|
Definition
| coagulation factor VIII: a defect in blood clotting due to a missing clotting factor. an accident may cause excessive bleeding or internal hemorrhaging. |
|
|
Term
|
Definition
3 or more variants in a population- phenotype depends on which 2 alleles are inherited *ABO blood types in humans- type AB is co-dominance: expressing both alleles equally
|
|
|
Term
| sex influenced inheritance |
|
Definition
allele is dominant in one sex but recessive in the other example: pattern baldness- baldness allele dominant in men but not women; only a woman homozygous for baldness allele would be bald *NOT the same thing as X linked |
|
|
Term
| what does the phrase norm of reaction refer to? |
|
Definition
| the effects of environmental variation on a phenotype |
|
|
Term
|
Definition
deviation between observed and expected outcome larger samples have smaller sampling errors; because humans have small families, observed data may be very different from expected outcome |
|
|
Term
|
Definition
| when 2 genes are on the same chromosomes, they tend to be transmitted as a unit; these linked genes do not follow the law of independent assortment |
|
|
Term
| what is the expected ratio for two traits of heterozygous organisms |
|
Definition
|
|
Term
| formula to determine map units apart? |
|
Definition
| (recombinants/total offspring) x 100 |
|
|
Term
| what can you use for humans with mapping? |
|
Definition
| SNP mapping (single nucleotide polymorphism)- the number of SNPs can tell you how closely you are related to someone else |
|
|
Term
|
Definition
| alleles of one gene mask the expression of the alleles of another gene; this often arises because 2 or more different proteins are involved in a single cellular function |
|
|
Term
| are there any genes not found on the chromosomes in the cell nucleus? |
|
Definition
| yes! extranuclear inheritance- mitochondria and chloroplasts contain their own genomes, which are smaller than nuclear genome but important to phenotypes |
|
|
Term
| what are chloroplast and mitochondrial genomes composed of? |
|
Definition
single, circular DNA molecule
|
|
|
Term
| Mitochondrial genome of many mammals |
|
Definition
contain 37 genes; 24 encode tRNAs and rRNAs needed for translation inside mitochondria 13 encode proteins for oxidative phosphorylation |
|
|
Term
|
Definition
| typically contain 110-120 genes, many of which encode proteins vital to photosynthesis |
|
|
Term
| why is leaf pigmentation based only on pigmentation of maternal plant? |
|
Definition
| because it is genetically based on different types of chloroplasts, which are inherited only through the cytoplasm of the egg |
|
|
Term
|
Definition
1. Exhibiting different colors, esp. as irregular patches or streaks. 2. (of a plant or foliage) Having or consisting of leaves that are edged or patterned in a second color, esp. white as well as green. |
|
|
Term
| what is the most common pattern of mitochondrial transmission in eukaryotes? |
|
Definition
|
|
Term
| when mutations in human mitochondrial genes cause diseases...? |
|
Definition
| they are usually rare and effect organs and cells that require high levels of ATP |
|
|
Term
| when do epigenetic modification of a genes or chromosomes occur? |
|
Definition
| during egg formation, sperm formation, or early stages of an embryo |
|
|
Term
| how permanent are epigenetic mutations? |
|
Definition
they DO permanently affect the phenotype of the individual BUT they are not permanent over the course of many generations |
|
|
Term
| T/F: do epigenetic modifications change the actual DNA sequence? |
|
Definition
|
|
Term
| 2 examples of epigenetic modifications |
|
Definition
X inactivation genomic imprinting |
|
|
Term
| two examples of evidence of X inactivation |
|
Definition
barr bodies are in female but not male cat cells calico cat coat pattern |
|
|
Term
|
Definition
| one X chromosomes in the *SOMATIC cells of female *MAMMALS is inactivated |
|
|
Term
| how does the cell know to create Barr body? |
|
Definition
| counts the number of X inactivation centers (XIC)- missing Xic makes both X chromosomes active- lethal! |
|
|
Term
| when does the X inactivation and spreading occur? |
|
Definition
| only during embryonic development, but maintanance occurs over life |
|
|
Term
| how does the X inactivation occur? |
|
Definition
The Xist non-coding RNA spreads along the inactive chromosome ("painting" it) The Tsix non-coding RNA represses Xist on the active chromsome |
|
|
Term
| Do imprinted genes follow the Mendelian patterns of inheritance? |
|
Definition
NO! offspring are distinguished between maternally and paternally inherited chromosomes- offspring will either express the maternal or paternal allele, but not both |
|
|
Term
| dwarfism and genomic imprinting |
|
Definition
if you get your normal mom's methylated X genes and your midget dad's X gene is the one that is expressed, then you will be a midget
Normal and dwarf offspring can have the same genotype but different phenotypes • In mammals, only the paternal Igf-2 gene is expressed –The maternal Igf-2 is methylatedand cannot be transcribed • A male can inherit a methylatedgene from his mother that is never transcribed but he can pass on an active, non-methylated copy of this exact same gene to his offspring
|
|
|
Term
| explain the timeline of methylation |
|
Definition
after fertilization, somatic cells retain the methylation pattern inherited from the parents
during gamete formation, methylation is erased
during egg formation, the gene is always methylated, while sperm formation it is not. |
|
|
Term
|
Definition
different mode of action from epigenetic inheritance genotypes of father and of the offspring themselves don't affect phenotype example- shell spiraling left or right explained by egg maturation in female animals- maternal nurse cells surround developing egg and provides it nutrients in diploid nurse cells, both copies of maternal effect genes are active gene products are transported into the egg where they persist for a significant time during embryonic development- early stages of cell division set pattern of spiral
*in other words: phenotype of the baby will reflect the genotype of its mother |
|
|
Term
| genomic imprinting: better explanation |
|
Definition
We all inherit two copies of every autosomal gene, one copy from our mother and one from our father. Both copies are functional for the majority of these genes; however, in a small subset one copy is turned off in a parent-of-origin dependent manner. These genes are called 'imprinted' because one copy of the gene was epigenetically marked or imprinted in either the egg or the sperm. Thus, the allelic expression of an imprinted gene depends upon whether it resided in a male or female the previous generation.
Imprinted genes are susceptibility targets for numerous human pathologies because their functional haploid state enables a single genomic or epigenomic change to dysregulate their function causing potentially disastrous health effects. Imprinting anomalies are often manifested as developmental and neurological disorders when they occur during early development, and as cancer when altered later in life.
The mechanisms for imprinting are still incompletely defined, but they involve epigenetic modifications that are erased and then reset during the creation of eggs and sperm.
for genes where mom's allele is methylated, is like the reverse effect of maternal effect genes (so your phenoytype is only determined by the gene you got from your dad bc the one you got from your mom is methylated) |
|
|
Term
| what disease suggested "one gene, one enzyme" |
|
Definition
| alkaptonuria- HA accumulates because the enzyme responsible for breaking it down was mutated |
|
|
Term
|
Definition
the inability of an organism to synthesize a particular organic compound required for its growth
Auxotrophy is the opposite of prototrophy, which is characterized by the ability to synthesize all the compounds that the parent organism could. |
|
|
Term
| beadle and tatum experiment |
|
Definition
the mutants were missing one of the three enzymes required to linearly process precursor molecule into argenine. if you gave the mutant the molecule that ought to have been produced by the enzyme that it was missing, it makes all the other enzymes and so then can create argenine
results suggested that each mutation caused a defect in only one enzyme in a metabolic pathway.
|
|
|
Term
| how does RNA differ from DNA? |
|
Definition
usually, one polynucleotide strand
the sugar is ribose
contains uricil instead of thymine (uricil has a hydrogen where the thymine has a methyl)
|
|
|
Term
| how does single strand RNA fold into complex shapes? |
|
Definition
|
|
Term
| what type of bonds does RNA catalyze? |
|
Definition
|
|
Term
| what is the transcript in transcription? |
|
Definition
|
|
Term
| what is another name for tRNA? |
|
Definition
"the adapter molecule"- that can bind amino acids and recognize a nucleotide sequence
adapter molecules contain anticodons complementary to the codons in mRNA |
|
|
Term
| what does it mean to say that RNA polymerases are processive? |
|
Definition
| a single enzyme template binding results in the polymerization of hundreds of RNA bases |
|
|
Term
| unlike DNA polymerases, RNA polymerases... |
|
Definition
| do not need primers, lack a proofreading function |
|
|
Term
| relative to the direction of transciprtion, which way does RNA exit RNA polymerase? |
|
Definition
|
|
Term
| three phases of transcription |
|
Definition
initiation
elongation
termination |
|
|
Term
| what is required to begin initiation of transcription? |
|
Definition
| a promoter- a special sequence of DNA that tells RNA polymerase where to start and which stand of DNA to transcribe |
|
|
Term
| where is the initiation site? |
|
Definition
| it is part of the promoter site, and is in between the promoter site and the rest of the sequence of DNA to be transcribed |
|
|
Term
| How much does RNA polymerase unwind DNA? in what direction does it read the template strand? |
|
Definition
About 10 base pairs at a time
Reads in the 3' to 5' direction (because creates in the 5' to 3' direction. because can only add on to the 3' end) |
|
|
Term
what specifies to the RNA polymerase that termination ought to occur?
how might termination occur? |
|
Definition
a specific DNA base sequence
it varies- for some genes, the transcript falls away from the DNA template and RNA polymerase- for others, a helper protein helps to pull it away |
|
|
Term
| interestingly, the sequences of anticodons of tRNA used during translation almost exactly matches... |
|
Definition
| the "DNA coding strand" (the strand opposite the "template strand" on which RNA polymerase works) |
|
|
Term
|
Definition
| in the pre-mRNA sequence (they are then spliced before the final mRNA, leaving the exons) |
|
|
Term
| introns appear to only be sandwiched between |
|
Definition
|
|
Term
| put these things in order: terminator, start codon, exon 1, intron 1, promoter, exon 2, stop codon |
|
Definition
promoter
start codon
exon 1
intron 1
exon 2
stop codon
terminator |
|
|
Term
| promoter (from wikipedia) |
|
Definition
In genetics, a promoter is a region of DNA that facilitates the transcription of a particular gene. Promoters are located near the genes they regulate, on the same strand and typically upstream (towards the 5' region of the sense strand).
In order for the transcription to take place, the enzyme that synthesizes RNA, known as RNA polymerase, must attach to the DNA near a gene. Promoters contain specific DNA sequences and response elements which provide a secure initial binding site for RNA polymerase and for proteins called transcription factors that recruit RNA polymerase. These transcription factors have specific activator or repressor sequences of corresponding nucleotides that attach to specific promoters and regulate gene expressions. |
|
|
Term
| what process is responsible for revealing introns? |
|
Definition
nucleic acid hybridization
(target DNA is denatured and then incubated with a probe- a nucleic acid strand from another source. if the probe has a complementary sequence, then base pairing forms a hybrid
there will be portions matched (exon matched with probe) and non matched loops (introns) |
|
|
Term
| sometimes, the separated exons code for different functional regions of the protein called... |
|
Definition
domains
(introns interrupt but don't scramble the DNA sequence encoding a polypeptide) |
|
|
Term
| modifications to pre-mRNA *in the nucleus (at the ends) |
|
Definition
G cap (modified guanosine triphosphate) is added at the 5' end, facilitates mRNA binding to ribosome and protects mRNA from being digested by ribonucleases
poly A tail (AAUAAA) sequence after last codon is a signal for an enzyme to cut the pre-mRNA, then another enzyme adds 100-300 adenines to the tail- may assist in export from the nucleus & is important for stability of RNA
the AAUAAA is part of the pre mRNA before modification (was created from DNA by RNA polymerase) |
|
|
Term
| what are the sequences between exons and introns? where to snRNPs (small nuclear ribonucleoproteins) bind? |
|
Definition
consensus sequences
snRNPs bind at consensus sequences and near the 3' end |
|
|
Term
| describe the formation of the splicesome? |
|
Definition
with eneergy from ATP, proteins are added to form an RNA-protein complex, the spliceosome- the complex cuts pre-mRNA, releases introns, and splices togther exons to make mature mRNA
snRNPs are bound to consensus sequences, come together to form spliceosome and chop off introns (on side, then loose side bonds to other end of intron) |
|
|
Term
| example of pre-mRNA not being correctly spliced |
|
Definition
| b-Thalassemia- a mutation may occur at an intron consensus sequences in the b-globin gene, the pre-mRNA is not spliced correctly, and non functional b-globin mRNA is produced |
|
|
Term
transcription and translation occurence:
prokaryotes vs. eukaryotes |
|
Definition
prokaryotes: at the same time in the cytoplasm
eukaryotes: transcription in the nucleus then translation in the cytoplasm |
|
|
Term
gene structure:
prokaryotes vs. eukaryotes |
|
Definition
prokaryotes: DNA sequence is read in the same order as the amino acid sequence
eukaryotes- noncoding introns within coding sequence |
|
|
Term
| modification of mRNA after initial transcription but before translation: prokaryotes vs. eukaryotes |
|
Definition
prokaryotes- none
eukaryotes: introns spliced out, 5' cap and 3' poly A tail added |
|
|
Term
|
Definition
start codon: AUG- initiation signal for translation
stop codons: UAA, UAG, UGA- stop translation and polypeptide is released |
|
|
Term
|
Definition
| codes for methionine, is also the start codon |
|
|
Term
| genetic code. redundant. ambigous. go. |
|
Definition
For most amino acids, there is more than one codon; the genetic code is redundant. The genetic code is not ambiguous— each codon specifies only one amino acid. |
|
|
Term
| interesting fact: for each amino acid, there is _________ tRNA |
|
Definition
| a specific type or "species" |
|
|
Term
| what must happen for the protein specified by the mRNA is made correctly? |
|
Definition
| tRNA must read mRNA correctly and then deliver amino acid corresponding with each codon |
|
|
Term
| what is responsible for the 3d shape of tRNA? |
|
Definition
| base pairing (hydrogen bonding) within the molecule |
|
|
Term
describe the structure of tRNA
attachment site and how?
opposite that?
what is unique about each? |
|
Definition
the 3' end is the amino acid attachment site- binds covalently
at the midpoint of the tRNA is the anticodon which is the site of base pairing with mRNA
the anticodon of each tRNA is unique |
|
|
Term
| what is responsible for charging each tRNA? |
|
Definition
| An aminoacyl tRNA synthetase (aaRS) is an enzyme that catalyzes the esterification of a specific amino acid or its precursor to one of all its compatible cognate tRNAs to form an aminoacyl-tRNA. This is sometimes called "charging" the tRNA with the amino acid. Once the tRNA is charged, a ribosome can transfer the amino acid from the tRNA onto a growing peptide, according to the genetic code. |
|
|
Term
| the 3' end of the tRNA that is the amino acid site is always |
|
Definition
|
|
Term
| what would be the DNA code for a tRNA with an anticodon of 3'-GCC-5'? |
|
Definition
|
|
Term
| what does wobble refer to and what does it allow for? |
|
Definition
specificty for the base at the 3' end of the codon is not always observed
allows cells to produce fewer tRNA species but does not allow the genetic code to be ambigous |
|
|
Term
what is the "second genetic code"
|
|
Definition
the process of tRNA charging
this is because each aminoacyl tRNA synthetases is highly specific for one amino acid and its corresponding tRNA |
|
|
Term
| what are the things that the three part active sites of aminoacyl tRNA sythetases bind to? |
|
Definition
a specific amino acid
a specific tRNA
ATP |
|
|
Term
| describe the process by which aminoacyl tRNA synthetases work |
|
Definition
| the ATP binding allows the aminoacyl tRNA synthetase to bind to the amino acid (ATP loses two Pi, becomes AMP), then tRNA binds, AMP leaves and tRNA is bound to amino acid |
|
|
Term
| RNA being translated into proteins: what does the ribosome look for? |
|
Definition
| the anticodon of the tRNA (not the amino acid) |
|
|
Term
| why is the ribosome called the workbench? |
|
Definition
| it holds mRNA and charged tRNAs in the correct positions to allow assembly of polypeptide chain |
|
|
Term
| what makes up the large unit of ribosome? the small unit? |
|
Definition
large subunit: 3 molecules of rRNA and 49 different proteins in a precise pattern
small subunit: one molecule of rRNA and 33 different proteins |
|
|
Term
| what are the three tRNA binding sites? where are they located? |
|
Definition
A (amino acid site)
P (polypeptide site)
E (exit site)
on the large subunit |
|
|
Term
| amino acid site of ribosome |
|
Definition
binds with anticodon of charged tRNA
|
|
|
Term
| polypeptide site of ribosome |
|
Definition
| where tRNA adds its amino acid to the growing chain |
|
|
Term
|
Definition
| where the tRNA sits before being released from the ribosome |
|
|
Term
| three steps of translation |
|
Definition
initiation elongation termination |
|
|
Term
|
Definition
| forms during initiation (of transcription)- a charged tRNA and small ribosomal subunit, both bound to mRNA |
|
|
Term
| initiation in prokaryotes vs. eukaryotes |
|
Definition
In prokaryotes rRNA binds to mRNA recognition site “upstream” from start codon.
In eukaryotes the small subunit binds to the 5′ cap on the mRNA and moves until it reaches the start codon. then the big rRNA comes up and binds. |
|
|
Term
| the first amino acid is always |
|
Definition
| methionine (because start codon is AUG)- methionine may be removed after translation |
|
|
Term
| what is the term for the molecules responsible for assembly of the initiation |
|
Definition
|
|
Term
| elongation begins when what happens? |
|
Definition
| the second charged tRNA enters the A site |
|
|
Term
| what are the two reactions catalyzed by large subunit during elongation? |
|
Definition
it breaks bond between tRNA in P site and its amino acid
peptide bond forms between that amino acid and the amino acid on tRNA in the A site |
|
|
Term
| what is responsible for catalyzing the two principal chemical reactions of protein synthesis: peptide bond formation and peptide release? |
|
Definition
| peptidyl trasnferase (and rRNA is the catalyst in peptidyl activity) |
|
|
Term
| what is the name of the proteins that assist during the process of elongation (during transcription) |
|
Definition
|
|
Term
| describe the termination step of transcription |
|
Definition
translation ends when a stop codon enters the A site
stop codon binds a protein release factor- allows hydrolysis of bond between polypeptide chain and tRNA on the P site
polypeptide chain separates from the ribosome- C terminus is the last amino acid added |
|
|
Term
| overview: signals that start and stop transcription and translation |
|
Definition
in transcription: promoter DNA starts, terminator DNA ends
in translation: AUG starts; UAG, UGA or UAA stops |
|
|
Term
| T or F: only one ribosome can work on the same mRNA |
|
Definition
| false! several ribosomes can work together to translate the same mRNA, producing multiple copies of the polypeptide |
|
|
Term
|
Definition
| Many ribosomes read one mRNA simultaneously, progressing along the mRNA to synthesize the same protein. |
|
|
Term
| name the 2 posttranslational aspects of protein synthesis |
|
Definition
polypeptide emerges and *folds
its conformation allows it to interact with other molecules- it may contain a signal sequence indicating where in the cell it belongs |
|
|
Term
| what are the two kinds of instructions that the amino acid sequence may give to the polypeptide? |
|
Definition
“Finish translation and send to an organelle, or remain in the cytosol” or “Stop translation, go to the endoplasmic reticulum (ER), finish synthesis there.” |
|
|
Term
| what is the term that refers to the ability of cells to control their level of gene expression? |
|
Definition
|
|
Term
| T or F: most genes are not regulated and produce protein constantly and in random amounts |
|
Definition
False! Majority of genes regulated so proteins produce at certain times and in specific amounts
|
|
|
Term
| what is the name for genes that are unregulated and have essentially constant levels of expression? |
|
Definition
|
|
Term
| what are things the cell kind of needs to consider with expressing genes? |
|
Definition
do I need this gene? is this the right cell type? is this the right time in development? |
|
|
Term
| with gene regulation in bacteria, when is it most common? when else can it occur? |
|
Definition
at the level of transcription- also can control the rate mRNA is translated or regulate at protein or post translation level |
|
|
Term
| what are the two types of regulatory transcription factors? |
|
Definition
repressors and activators;
repressors inhibit transcription (negative control)
activators increase the rate of transcription (positive control) |
|
|
Term
| what is the role of small effector molecules? |
|
Definition
| they bind to regulatory transcription factor and causes conformational change, thus determining whether regulatory transcription factor can bind to DNA |
|
|
Term
| what are the 2 domains in regulatory transcription factors that respond to small effector molecules |
|
Definition
Site where protein binds to DNA Site for small effector molecule |
|
|
Term
| what is an operon in bacteria? |
|
Definition
| a cluster of genes under transcriptional control of one promoter |
|
|
Term
| what is the regulatory region of an operon? |
|
Definition
|
|
Term
| what is the name for mRNA that encodes for more than one protein? |
|
Definition
| polycistronic mRNA- allows regulation of a group of genes with a common function |
|
|
Term
| what is the term for the promoter of the lac operon? |
|
Definition
|
|
Term
| what do Z, Y and A lac genes respectively encode for? |
|
Definition
b-galactosidase lactose permease galactosidase transacetylase |
|
|
Term
| what are the 2 regulatory sites near the lac promoter? |
|
Definition
lacO that provides the binding site for repressor protein CAP site: activator protein binding site |
|
|
Term
what does the lacI gene code for? is it considered a regulatory gene? |
|
Definition
the lac repressor (has its own promoter, so not part of the lac operon) yes- because its only function is to regulate the other gene's expression |
|
|
Term
| what are the two basic alterations (mutations) |
|
Definition
1. change base sequence 2. add of remove nucleotides |
|
|
Term
| what does "genetic code is degenerate" mean? |
|
Definition
| the degenerate code is redundant |
|
|
Term
| what is a silent mutation |
|
Definition
| does not alter the amino acid sequence |
|
|
Term
| does a missense mutation change whether the protein functions? |
|
Definition
sometimes- a missense mutation changes a single amino acid in a protein, but as long as the amino acid is similar in chemistry to the original, it may not alter function
sickle cell disease is an example of this |
|
|
Term
| sickle cell anemia: how does it work? |
|
Definition
| the mutant B-globin gene has a Val on the 6th amino acid instead Glu |
|
|
Term
| what does a nonsense mutation do? |
|
Definition
changes a normal codon to a stop of termination codon produces what is called a "trunicated polypeptide" |
|
|
Term
| what is a frameshift mutation? |
|
Definition
| the addition or deletion of nucleotides that are not in multiples of 3, so that there is a completely different amino acid sequence downstream from the mutation |
|
|
Term
| what happens if a mutation alters the sequence within a promoter |
|
Definition
| this may enhance or inhibit transcription |
|
|
Term
| what happens if there is a mutation in regulatory element or operator site? |
|
Definition
| the mutation may later where the DNA sequence of operator is located so that the repressor protein does not bind |
|
|
Term
| what will be the effect of a germ line mutation |
|
Definition
| the entire organism carries the mutation and half of the gametes carry the mutation |
|
|
Term
| what will be the effect of a somatic cell mutation? |
|
Definition
| there is patch of affected area on the individual, but none of their gametes carry the mutation |
|
|
Term
| what is the expected rate of background mutation? |
|
Definition
| 1 mutation for every 1 million genes |
|
|
Term
| what does ionizing radiation do to create mutations |
|
Definition
| has high energy- can create free radicals which causes base deletions or breaks in 1 or both DNA strands |
|
|
Term
| how does non-ionizing radiation differ in its ability to create mutations? |
|
Definition
it has less energy, so can only penetrate the surface cause the formation of *thymine dimers, causing gaps or incorporation of incorrect bases |
|
|
Term
|
Definition
assess the mutagenic potential of chemical compounds
uses salmonella that cannot sythesize histidine; the mutagen causes a mutation that allows the salmonella to synthesize histidine
so if the salmonella grows in the presence of the suspected mutagen, you know the mutagen causes mutations |
|
|
Term
| what is the most common DNA repair system |
|
Definition
| Nucleotide Excision Repair |
|
|
Term
| overview of nucleotide excision repair |
|
Definition
Region encompassing several nucleotides in the damaged strand is removed from the DNA • Intact undamaged strand is used as a template for re-synthesis of a normal complementary strand • Found in all eukaryotes and prokaryotes |
|
|
Term
| what is the name of the complex that tracks along the DNA looking for damaged DNA? |
|
Definition
|
|
Term
| what is the compound that attaches to UvrB that then cuts out the damaged DNA? |
|
Definition
|
|
Term
| what is responsible for removing the damaged region of DNA with nucleotide excision repair? |
|
Definition
|
|
Term
| what is responsible for fixing the messed up DNA once the damaged region has been repaired? |
|
Definition
DNA polymerase DNA ligase seals the new strand to the original strand |
|
|
Term
| why would photosensitivity be a common characteristic in three syndromes that helped provide evidence for the NER systems |
|
Definition
| an inability to repair UV-induced lesions |
|
|
Term
| T or F: most cancers do not involve genetic changes that are passed down from parent to offspring |
|
Definition
| true (90%0 don't involve genetic changes passed down from parent to offspring |
|
|
Term
| what do 80% of cancers have in common? |
|
Definition
| they are related to exposure to carcinogens |
|
|
Term
| most carcinogens are mutagens that promote genetic changes in .... |
|
Definition
|
|
Term
| what are the characteristics of a malignant tumor? |
|
Definition
invasive metastatic if left untreated, will kill the organism |
|
|
Term
| what are the horomones called that regulate cell division |
|
Definition
|
|
Term
| how might growth factors (which regulate cell division) promote cancer |
|
Definition
| if a gene responsible for producing growth factor is mutated, it is called an oncogene, because produces way too many/way too active growth factor proteins, keeping the cell division signaling pathway in a permanent "on" position |
|
|
Term
| what may be the outcome of keeping the cell division signaling pathway in a permanent on position |
|
Definition
| either too much gene product or a functionally hyperactive protein |
|
|
Term
| what is sickle cell disease the result of? |
|
Definition
| a single amino acid substitution |
|
|
Term
| what do spontaneous mutations result from what? |
|
Definition
| abnormalities in biological processes |
|
|
Term
| which base pairs are the most vulnerable to mutations? |
|
Definition
| 5-methylated cytosine- it can lose an amino group to become thymine, so that when copied, half the molecules have an AT paired where there had been a CG |
|
|
Term
| common causes of mutations: errors in DNA replication |
|
Definition
| a mistake by DNA polymerase may cause a point mutation |
|
|
Term
| common causes of mutations: toxic metabolic processes |
|
Definition
| the products of normal metabolic processes may be reactive chemicals such as free radicals which can alter the structure of DNA |
|
|
Term
| common causes of mutations: changes in nucleotide structure |
|
Definition
| linkage between purines and deoxyribose can spontaneously break |
|
|
Term
| common causes of mutations: transposons |
|
Definition
| small segments of DNA that can insert into random sites in the genome, can sometimes inactivate a gene |
|
|
Term
| how can different chemicals induce mutations in DNA? |
|
Definition
| can alter the bases, can add groups to the bases (benzopyrene in smoke can modify guanine so DNA polymerase can't tell what its supposed to be and just adds a random base) |
|
|
Term
| what are the three ways that physical agents (radiation) can damage the genetic material? |
|
Definition
| creation of free radicals (which modifies bases so DNA polymerase doesn't recognize them), breaks sugar-phosphate backbone, causes adjacent thymines to form thymine dimers |
|
|
Term
| what is an example of deanimating a base? |
|
Definition
| nitrous acid- removes amino group of cytosine so it becomes uracil, which then has to pair with A (rather than the G that C should have paired with) |
|
|
Term
| how can mutagens interfere with replication? |
|
Definition
| by inserting themselves between bases, thus distorting the helix |
|
|
Term
|
Definition
UV light: - non ionizing radiation (so only penetrates the surface) -generates thymine dimers (causing gaps, incorporation of incorrect bases) |
|
|
Term
| example of intracellular signaling proteins' involvement in cancer: Ras |
|
Definition
Ras is a GTP hydrolyzes GTP to GDP; when GTP is bound, Ras promotes cell division.
signaling pathway is kept on if oncogenetic mutations decrease ability of Ras to hydrolyze GTP or exchange GDP for GTP faster. |
|
|
Term
| what is a proto-oncogene? |
|
Definition
| normal gene that, if mutated, can become an onocogene |
|
|
Term
| what are the 4 most common genetic changes in proto-oncogenes? |
|
Definition
1. missense mutations 2. gene amplifications 3. chromosomal translocations 4. retroviral insertions |
|
|
Term
| what is a gene amplification that leads to cancer? |
|
Definition
| because of gene duplication, there may be too many copies of a gene (in particular Myc gene) and so too much of the protein that that gene encodes for is created. |
|
|
Term
| what are chromosomal translocations? |
|
Definition
| when two different chromosomes break, and the ends of the broken chromosomes fuse incorrectly with each other |
|
|
Term
|
Definition
| two gene fragments fused together |
|
|
Term
| what translocation causes chronic myelogenous leukemia? |
|
Definition
| translocation 9:22- the Philadelphia chromosome |
|
|
Term
| what are the two ways that retroviral insertions can cause cancer? |
|
Definition
a viral promoter and response element are inserted next to a protooncogene, so that protooncogene is overexpressed (so it becomes an oncogene)
a virus may cause cancer because it carries an oncogene in the viral genome |
|
|
Term
| what are most cancers caused by? |
|
Definition
|
|
Term
|
Definition
prevent cancerous growth by producing proteins that: 1. moniter/repair alterations in the genome -checkpoint proteins check the integrity of the genome and prevent a cell from progressing past a certain point in the cell cycle 2. negatively regulate or inhibit cell division |
|
|
Term
| what is responsible for advancing a cell through the four phases of the cell cycle? what is able to stop the complex of these two things |
|
Definition
cyclin and cyclin dependent kinases
checkpoint proteins can stop formation of activated cyclin/cdk complexes |
|
|
Term
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Definition
the "tumor supressor gene" is a G1 checkpoint protein- when DNA is damaged, p53 is expressed and *cell is stuck in G1, cannot get to S *or cell is repaired and p53 stops being expressed *or if damage to DNA is too bad, p53 activates genes triggering apoptosis |
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Term
| what is the name of the protease that breaks down cells by digesting selected cellular proteins? (also called the executioner cell) |
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Definition
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Term
| what happens when the checkpoint genes are inactive because of mutation? |
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Definition
| animal may be born healthy (checkpoint proteins not necessary for normal growth and division) but are more likely to get cancer and are more sensitive to mutagens |
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Term
| what are some things that can cause cellular stress, triggering p53? |
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Definition
DNA damage activated oncogenes hypoxia ribonucleotide depletion telomere erosion |
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Term
| what is an example of a tumor supressor gene that negatively regulates cell division? |
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Definition
Rb protein
E2F is a regulatory transcription factor that activates genes required for cell cycle progression from G1 to S phase- Rb protein negative controls E2F by binding to it, inhibiiting its activity and preventing cell division
* when both copies of Rb are defective, the E2F protein is always active, resulting in uncontrolled division |
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Term
| Why do some people inherit retinoblastoma early in life and others develop it later in life? |
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Definition
you need two copies of the mutant retinoblastoma gene *people who get it early in life have one mutant gene from one parent and only need an additional mutation to develop the disease, so its likely to occur early in life * people who get it late have the non inherited version of the disease- they have to get two mutations in the same retinal cell to get the disease, so it takes much longer for that to eventually happen |
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Term
| what are the three common ways that the tumor supression gene function is lost? |
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Definition
Mutation occurs specifically within a tumor- suppressor gene to inactivate its function –Chromosome loss may contribute if the missing chromosome carries one or more tumor-suppressor genes –Abnormal methylation of CpG islands near promoter regions |
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Term
| is one mutation enough to cause cancer? |
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Definition
no! usually multiple genetic changes to the same cell are necessary * begins with a begign genetic alteration that with additional mutations leads to malignancy, which can continue to accumulate genetic changes making it more difficult to treat |
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Term
| how many genes are there that tend to get mutations that promote cancer in humans? |
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Definition
| 300- not all of these mutations cause the increased growth rate- actually they can just provide an advantage for the cell population from which the cancer developed |
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Term
| what percent of genes have the potential to promote cancer if their function is altered by a mutation? |
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Definition
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Term
| how might a karotype of cancer cells differ from a typical karotype? |
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Definition
there are weird patterns if tumor suppressor genes are on missing chromosomes, their function is lost as well an extra chromosome may result in over expression |
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Term
| what can translocations result in? |
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Definition
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Term
| what are the two models for heterogenity in solid cancer tumors |
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Definition
either the tumor cells are heterogeneous and most cells can form new tumors
or tumors are heterogeneous and only the cancer stem cell subset can form new tumors |
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Term
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Definition
CD24 expression in primary breast cancer as detected by immunohistochemistry might be a new marker for a more aggressive breast cancer biology.
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Term
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Definition
| Recent studies in brain tumors have identified a CD133+ cell population thought to be a cancer stem cell population, which is rare, undergoes self-renewal and differentiation, and can propagate tumors when injected into immune-compromised mice |
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Term
| how is the type of hemoglobin that a human produces determined? |
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Definition
| by alternative splicing of introns and exons |
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Term
| are there specific sequences which code for where the 5' cap and poly A tail attach? |
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Definition
| yes! cap sequence is before translation initation site and poly A addition site is after the translation termination site |
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Term
| what is the name of the enzyme that methylates cytosine to become 5-methylcytosine? |
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Definition
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