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Cell, Cancer, Genetics- Exam 2
DNA replication, Transcription, Translation, Cell Cycle- Mitosis, Meiosis, Genetics
119
Biology
Undergraduate 2
10/18/2008

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Term
Eukaryotic Cell
Definition
Has a true nucleus
1) animals
2) plants
3) fungi
4) protists
Term
Cell
Definition
Fundamental unit of life:
Performs all life activities:
1) Extract and use energy
2) Reproduction
3) Growth and development
4) Homeostasis
5) Respond to environment
Term
Prokaryotic Cell
Definition
Lacks a true nucleus
1) bacteria
2) archaea
Term
Parts of the prokaryotic cell
Definition
1) pili
2) nucleoid
3) ribosome
4) plasma membrane
5) cell wall
6) flagella
7) bacteria chromosome and DNA
Term
Examples of extremophiles
Definition
1) methanogens (no Oxygen)
2) thermophiles (heat)
3) halophiles (salt)
Term
Organelle
Definition
Membrane bound compartment; distinct functions
1) characteristic set of enzymes
2) specialized molecules
Term
Parts of the nucleus
Definition
1) nuclear envelope (2 phospholipid bilayers)
2) nucleolus (makes ribosomes)
3) nuclear pores (enter/exit)
4) chromatin (DNA + protein)
Term
Nuclear localization signal
Definition
Proteins receive this to tell them to go to the nucleus to fold correctly
ex. Rhett syndrome if not receiving NLS
Term
Nuclear lamina
Definition
network composed of many proteins; Lamin A and Lamin C
1) structural integrity of the nucleus
2) organization of DNA in the cell
3) muscle functioning
4) nuclear pores formation
ex. Hutchinson-Gilford progeria syndrome (extreme aging)
Term
Cytoplasm
Definition
1) cytosol (aqueous "gel" of cell)
2) ribosomes (build proteins)
3) organelles
4) cytoskeleton
Term
Endomembrane system
Definition
1) nucleus
2) ER rough and smooth
3) Golgi apparatus
4) Lysosomes
5) transport vesicles
Term
Endoplasmic reticulum
Definition
Biosynthetic factory; surrounds nucleus
1) Smooth: no ribosomes; lipid production
2) Rough: has ribosomes; protein production
Term
What happens to the protein in the ER?
Definition
1) Protein folds (gets signal to go to ER, help from chaperones, destroyed if improperly folded)
2) Modifications: cleavage; cutting, slicing
ex. attach chemical groups like a polysaccharide to make a glycoprotein
Term
Proteins are modified further in the Golgi apparatus
Definition
Shipped to the plasma membrane, secreted outside the cell (exocytosis), shipped to a lysosome
Term
Lysosome
Definition
recycling center of the cell; contain hydrolytic enzymes that break down macromolecules
ex. Tay Sachs disease (lipid accumulation from a defective enzyme not breaking down)
Pompe's disease (enzyme doesn't break down glycogen to glucose so it builds up in muscle and liver cells)
Term
Cistic Fibrosis
Definition
Protein doesn't make it to the correct ocation; Cl- ions can't pass without CFTR in the plasma membrane, H20 can't pass, sticky mucus builds up and one has to cough up particles
ex. deletion of the 508 amino acid
Term
Other structures not in the endomembrane system
Definition
1) peroxisomes (breakdown molecules to toxins like H2O2 then to good products)
2) mitochondria, chloroplasts (chemical energy conversion, cellular respiration)
3) cytoskeleton (structural support, motility, cell division, regulation of cell activities)
Term
Motor proteins
Definition
Change shape with binding/unbinding of a Phosphate from ATP which causes them to "walk" and carry a transport vesicle along a microtubule monorail from the Golgi to the ER
Term
Nucleic acids
Definition
Phosphate group, 5 carbon sugar, nitrogenous base

Types: DNA and RNA
monomer: nucleotide
Term
Bases in DNA
Definition
1) Thymine (1 ring)
2) Adenine (2 rings)

3) Guanine (2 rings)
4) Cytosine (1 ring)
Term
DNA strands
Definition
antiparallel, have directionality, made in the 5' to 3' direction

Leading strand: continuous synthesis
Lagging strand: discontinuous synthesis
Term
Telomeres
Definition
Keep DNA intact (shoelace), repeated sequences without genes
Term
Telomerase
Definition
Enzyme that extends telomeres; present in cells of embryos and stem cells, could live forever so it isn't present in ALL cells
Term
Nuclease
Definition
enzyme that chops nucleic acids where the mistake is
Term
Mismatch repair
Definition
Template strand is methylated so it doesn't get chopped by nuclease

1) Nuclease comes in
2) DNA polymerase comes in
3) Ligase glues it together
Term
Helicase
Definition
unwinds double stranded DNA
Term
Topoisomerase
Definition
unwinds supercoiling of chromosome
Term
Primase
Definition
makes a primer (single strand of RNA with a 3' -OH group)
Term
DNA Polymerase I
Definition
replaces RNA primer with DNA
Term
DNA Polymerase III
Definition
makes the new DNA strand
Term
Ligase
Definition
glues pieces of DNA together
Term
Origin of replication, ORI
Definition
specific spots where helicase opens the double stranded DNA and replication begins
Term
Replication bubble
Definition
open area between double helix
Term
Replication fork
Definition
area where replication begins
Term
Promoter
Definition
specific nucleotide sequence where RNA polymerase attaches and transcription begins (Start codon AUG)
Term
RNA polymerase
Definition
enzyme making RNA molecule
Term
Regulatory sequence
Definition
site for binding of regulatory proteins, influence transcription rate of RNA polymerase
Term
Transcribed region
Definition
information that specifies an amino acid sequence
Term
Terminator
Definition
signals end of transcription (stop codon)
Term
Initiation of transcription
Definition
RNA polymerase binds and unwinds double helix
Term
Elongation of transcription
Definition
RNA polymerase moves down unwinding nucleotides in a 5' to 3' direction until it reaches the terminator sequence
Term
Termination of transcription
Definition
RNA polymerase recognizes the terminator region and falls off; molecule is released into the nucleus
Term
Cap
Definition
stability of RNA molecule; helps mRNA bind to the ribosome
Term
Poly-A-tail
Definition
3' end gets a tail; stability of RNA molecule; longer tail=longer life; helps exit from the nucleus to the cytosol (Nuclear export signal)
Term
Splicing
Definition
Introns are removed (loop out) to give a mature mRNA
Term
Translation
Definition
mRNA to a polypeptide
Term
Codons
Definition
triplets of bases in mRNA; "words" that specify which amino acid will be put in the polypeptide
Term
Genetic code
Definition
connects gene to protein; not ambiguous; redundant; universal
Term
tRNA (transfer)
Definition
single strand; folds into a stable clover shape; carries anti-codons (amino acid is attached)
Term
mRNA (messenger)
Definition
carries codons (nucleotide triplets)
Term
mRNA (messenger)
Definition
carries codons (nucleotide triplets)
Term
rRNA (ribosomal)
Definition
binds to small/large subunits
Term
Anticodon
Definition
binds with complementary codon in the mRNA
ex. AAG --> UUC
Term
P site
Definition
binds tRNAs carrying the polypeptide chain
Term
A site
Definition
binds tRNAs carrying an amino acid
Term
E site
Definition
exit site for tRNAs to leave
Term
Initiation (translation)
Definition
mRNA molecule binds to small sub-unit; anticodon of the initiator tRNA binds to start codon of mRNA; large subunit binds to make the complex
Term
Elongation (translation)
Definition
anticodon of next charged tRNA binds to codon in the A site; tRNA-Met bond is broken and Met binds to the next amino acid
Term
Translocation
Definition
mRNA shifts to P site from A site. Empty A site is now ready for the new polypeptide to come in and bind
Term
Termination (translation)
Definition
stop codon binds and everything falls off
Term
What protein sequence will be translated from the DNA sequence

5' CCCATGCACTAA 3'
3' GGGTACGTGATT 5'template strand
Definition
CCCAUGCACUAA

Met-His-STOP
Term
Mutation
Definition
permanent change in DNA sequence
Term
Point mutations
Definition
Single nucleotide base change in DNA
1) Silent
2) Missense (different nucleotide is added; sickle cell anemia; hydrophilic --> hydrophobic group)
3) Nonsense (truncated protein; CF)
Term
Frameshift mutations
Definition
Base pair insertion/deletion
1) Missense (garbage; shift of 1 nucleotide ex. polycystic kidney disease- doesn't read the STOP codon)
2) Nonsense (truncated protein)
Term
Chromosome
Definition
structure where an organism's genetic material is organized
1) 46 in humans
2) 23 pairs
3) 1-22 autosomes
4) 23 sex chromosomes
Term
Haploid, 1n
Definition
Cells/organisms with unpaired chromosomes
Term
Diploid, 2n
Definition
Cells/organisms with paired chromosomes
Term
Mitosis
Definition
division of the nucleus and its contents (cells are replicated prior to mitosis)
Term
Cytokinesis
Definition
division of the cytoplasm and organelles
Term
Mitosis functions
Definition
1) growth (egg and sperm)
2) repair and replacement (red blood cells)
3) asexual reproduction (budding)
Term
G1
Definition
cell growth, transcription, translation, cellular respiration

check point: cell size, shape, DNA integrity
Term
G0
Definition
resting phase (cells that cease division)
Term
S phase
Definition
DNA replication occurs (DNA synthesis)
Term
G2
Definition
Growth, transcription, translation, centrosomes appear

check point: cell size, shape, DNA integrity, replication has completed
Term
Centromere
Definition
region of DNA where sister chromatids are attached
Term
Kinetochore
Definition
site of microtuble attachment
Term
Prophase (mitosis)
Definition
Preparing for separation
1) chromatin condenses
2) nuclear envelope fragments
3) mitotic spindle forms
4) microtubules attach to kinetochores
5) centrosomes move to cell's outside
Term
Metaphase (mitosis)
Definition
Lining up the chromosomes along the metaphase plate (order unimportant)
Term
Anaphase (mitosis)
Definition
Separating sister chromatids
1) spindle microtubules shorten
2) polar microtubules lengthen
3) sister chromatids separate
4) sister chromatids are pulled to opposite ends of the cell
Term
Telophase (mitosis)
Definition
Producing two daughter nuclei (identical to parent)
1) nuclear envelope reforms
2) chromosomes condense (lengthen)
3) cleavage furrow from actin microfilaments that get tighter and pinch into 2 daughter cells
Term
Binary Fission
Definition
cell division in prokaryotes (mitochondria, chloroplasts)
1) DNA is replicated
2) cells elongate
3) pinch into 2 cells with 2 chromosomes in each
Term
Metaphase checkpoint (mitosis)
Definition
check that all chromosomes are attached to kinetochore microtubules
Term
How an external signal signals a cell to divide
Definition
1) Reception: signal molecule binds to receptor and receptor is activated
2) Transduction: converting external signal to internal message
3) Response: activate cell cycle control proteins or turn on cell cycle control genes

ex. Epidermal growth factor (binds to EGF receptor)
Term
Proto-oncogenes
Definition
genes that encode signals, receptors, signaling molecules, control proteins (GOOD)
Term
Oncogenes
Definition
mutated proto-oncogenes (BAD= cause cancer)
Term
How a proto-oncogene becomes an oncogene
Definition
1) Missense mutation: hyperactive; sees signal all the time=constant division (abnormal protein)
2) Gene amplification: too many signals received/sent telling cell to divide (normal protein, but too much of it)
Term
Her2
Definition
too many cell divisions lead to breast cancer when a signal molecule binds to Her2; genes are turned on that stimulate cell division and inhibit cells from dying (over-expression of Her2)

Antibodies (proteins that recognize and bind to specific molecules) used to shut down excess Her2
Term
Tumor suppressor proteins
Definition
proteins inhibiting cell division in conditions aren't favorable
1) detect/repair DNA damage
-override check points if mutated
2) make sure cells are anchored
-invade other parts of the body if mutated
Term
BRCA2 (tumor suppressor protein)
Definition
helps repair damaged DNA; if mutated, still go through mitosis and increase breast cancer risk
Term
p53 (tumor suppressor protein)
Definition
helps decide whether to repair damaged DNA or commit cell suicide; if damaged, tumor cells proliferate
Term
Tumor suppressor gene methylation
Definition
silences tumor suppressor genes=BAD!

*epigenetic phenomenon (process that alters gene activity without changing DNA sequence)
Term
Telomerase and cancer
Definition
leads to cell immortality; can be inhibited by antisense drugs (single-stranded nucleic acid complementary to mRNA molecule made by cell)
Term
Model of cancer development
Definition
1) benign growth: localized mass (can be removed surgically)
2) malignant growth: more than just the localized area (not removed by surgery)
3) metastasis: moves all over body through bloodstream
Term
Angiogenesis
Definition
formation of blood vessels; need to be inhibited because if you have cancer, it can be transported through blood vessels
Term
Therapies for cancer
Definition
1) Chemotherapy: injecting chemical into blood stream to kill dividing cells (prevent mitosis, stop DNA replication)
2) Radiation therapy: energy particles damage DNA (cells are destroyed/injured)
Term
Codominat alleles
Definition
both alleles seen in phenotype
ex. AB blood type
Term
Pedigrees
Definition
looking at some trait through a family
Term
Hemizygous
Definition
males are hemizygous for sex-linked genes; don't have 2 X chromosomes to make up for the missing gene on the X chromosome
Term
Meiosis
Definition
making haploid gametes (2n parent cell makes 4 1n daughter cells which are NOT identical to their parent or each other)
Term
Allele
Definition
alternative form of a gene
ex. blue eyes, brown eyes, hazel eyes, green eyes
Term
Meiosis I
Definition
Separation of homologous chromosomes
Term
Prophase I (meiosis)
Definition
1) chromosomes condense
2) synapsis: homologous chromosomes pair up
3) crossing over occurs (physically overlapping to form recombinant chromosomes)
4) nuclear envelope breaks down and spindle forms
Term
Metaphase I (meiosis)
Definition
opposite line-up on either side of metaphase plate (random) independent assortment occurs here
Term
Independent assortment
Definition
"random" alignment of chromosomes on the metaphase plate (2^23 possibilities)
Term
Anaphase I (meiosis)
Definition
1) homologous chromosomes are separated and move to opposite sides of the cell (sister chromatids still attached at centromere)
2) kinetochore MT shorten and polar MT lengthen
Term
Telophase I and Cytokinesis (meiosis)
Definition
1) each half of cell has complete haploid set of replicated chromosomes
2) cleavage furrow forms
3) chromosomes may decondense as nuclear envelope reforms
4) NO DNA REPLICATION
Term
Meiosis II
Definition
Separation of sister chromatids
Term
Prophase II (meiosis)
Definition
If chromosomes decondensed in telophase I, they recondense here
Term
Metaphase II (meiosis)
Definition
chromosomes line up on the metaphase plate (unpaired)
Term
Anaphase II (meiosis)
Definition
1) Separation of sister chromatids
2) polar MT lengthen, kinetochore MT shorten
Term
Telophase II/Cytokinesis (meiosis)
Definition
1) nuclei reform
2) chromosomes condense
3) cleavage furrow

FINAL OUTCOME: 4 haploid cells, different from parent and each other (half of what parent cell was)
-1 copy of chromosome 1
-1 copy of chromosome 2
Term
Genetic variation in sexually reproducing organisms is due to
Definition
1) crossing over
2) independent assortment
3) random fertilization
Term
Phenotype
Definition
physical traits of an organism (blue eyes, brown eyes)
Term
Genotype
Definition
genetic make-up of an organism (Tt, what alleles=what it looks like)
Term
Locus
Definition
point gene is at on a chromosome
Term
Dominant alleles
Definition
fully expressed in the organism's appearance even if only 1 allele is present
ex. Ty or TY
Term
Recessive alleles
Definition
has no noticeable affect on the phenotype if dominant allele is present
ex. Ty will still look like TY because y is recessive
Term
Homozygous
Definition
both alleles are the same
ex. PP
Term
Heterozygous
Definition
two alleles are different
ex. Pp
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