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Definition
| studies the genetic makeup of groups and how groups genetic composition changes over time (evolution); can be influenced by numerous genetic, epigenetic, and environmental factors |
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Definition
| group of interbreeding, sexually reproducing individuals with a common set of genes, the gene pool |
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| The genetic bases of cancer |
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Definition
defects in DNA (ionizing radiation, chemical mutagens)
chromosome abnormalities
some specific types of cancers tend to run in families (retinoblastoma inherited as an autosomal dominant trait). |
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Definition
Rapid, continuous cell division
crowd out normal cells
out-compete healthy cells for nutrients |
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Definition
| located in cellular membrane; part of growth factor receptor; oncogene |
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Definition
| cytoplasm; thyroid-hormone receptor and oncogene |
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| cell membrane; protein tyrosine kinase; oncogene |
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Definition
| cell membrane GTP binding and GTPase; oncogene |
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Definition
| nucleus, transcription factor; oncogene |
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Definition
| mutated in Rett's syndrome; methylated binding protein-regulate transcription by doing that; Rett-not produced MeCP2 |
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Definition
| positive charged amino acids on proteins; wrap DNA and keep tightly wound; add acetyl group to histone to mask positive charge and cause loosening |
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Definition
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| Uracil, Thymine, and Cytosine |
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Definition
| ribosomal RNA; component of ribosomes with catalytic and structural function |
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Definition
| messenger RNA an RNA copy of the DNA sequence (gene) used as a template for protein synthesis. |
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Definition
| pre-messenger RNA; immediate produce of transcription (eukaryotes only) |
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Definition
| transfer RNA; a small RNA that attaches to a specific amino acid which can be added to a growing peptide chain |
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Definition
| small nuclear RNA, involved in RNA splicing (eukaryotes only) |
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Definition
| small RNAs; inhibit translation (eukaryotes only) |
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Definition
| triggers degradation of other RNA molecues (eukaryotes only); control of gene expression ; degrade different RNA |
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Term
| Three major components required for transcription |
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Definition
DNA template
Substrates needed to build a new RNA molecule
Transcription machinery (proteins and enzymes)
(just copies one strand and is highly selective) |
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Term
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Definition
| nucleotides are added to the three prime end of the RNA molecule (5' to 3') |
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| coding (non-template strand) |
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Definition
| Has same polarity as RNA produced |
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Definition
| gets copied; template strand |
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Definition
Promoter (when and where transcribed); DNA sequence no transcribed
RNA-coding region
Terminator |
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Definition
transcriptional machinery binds
indicates which of 2 DNA strands is too be the template
determines direction of transcription
usually located next to transcription start site |
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Definition
| DNA sequence that is copied into an RNA molecule |
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Term
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Definition
| DNA sequence that signals where transcription ends |
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Definition
Sigma factor
core polymerase-RNA polymerase holo enzyme
no sigma factor-none or spontaneous transcription adn won't produce functional RNA.
recognizes promoter and initiates synthesis |
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Definition
| Medilian inheritance, basic discovered traits. |
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Definition
| Modern genetics molecules are responsible |
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Definition
| the study of allelic frequency in a population, how evolution changes over time pertaining to allelic frequency |
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Term
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Definition
sequence of DNA responsible for a trait, unit of heritability,
transcriptional unit consisting of
promoter: DNA sequence that determines when and where a gene is transcribed
RNA coding region: region that actually gets transcribed
terminator: DNA sequence that signals where transcription ends |
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Term
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Definition
located on chrom in nucleus, ds, composed of nucleotides
chromosomes: contain DNA and proteins which make up chromatin |
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Term
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Definition
| made up of DNA and proteins, nucleic acid associated with protein |
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Term
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Definition
DNA -> transcription ->RNA translation into protein -> aa
protein goes on to produce some trait |
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Definition
| Prokaryotes, Eukaryotes, Archaea |
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Term
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Definition
| all the chromosomes an organism possesses |
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Definition
| protein components of a chromosome |
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Term
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Definition
DNA replication, copy separation, cytoplasmic division
cytoplasmic division: is asymmetrical |
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Term
| Prokaryotic Cell Reproduction |
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Definition
definition of simple division
separation of replicated circular division |
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Term
| Prokaryotic Cell Division |
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Definition
| prokaryotic cell division |
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Term
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Definition
| eukaryotes cell division, multiple chromosomes contained within nucleus |
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Term
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Definition
homologous pair: similar structure and size
centromere: attachment for spindle microtubules
telomeres: tips of linear chromosome, stabilize ends and play a role in aging and cancer
origin of replication: where DNA synthesis begins |
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Definition
| equal number of functional centromeres |
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Definition
| equal number of chromatids |
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Definition
| production of haploid gametes |
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Definition
| fusion of haploid gametes |
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Definition
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Definition
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Term
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Definition
| first division in meiosis |
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Term
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Definition
| keeps the number of chromosomes the same, occurs in second round of meiosis division |
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Term
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Definition
meiosis I: homologs pair and separate
meiosis II: sister chromatids separate |
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Term
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Definition
| exchange of genetic info between non sister chromatids |
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Definition
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Term
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Definition
| a protein complex that holds sister chromatids together |
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Term
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Definition
| enzyme that cleaves cohesion |
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Term
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Definition
| protein that protects cohesion from cleavage |
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Term
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Definition
cross between two parents that differ in a single characteristic
allele: one of two or more alternate forms of a gene |
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Term
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Definition
| specific place on a chromosome occupied by an allele |
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Term
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Definition
| site of alleles that an individual possesses |
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Term
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Definition
| appearance of a trait only genotype is inherited, genotype + environment = phenotype |
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Definition
| produce gametes that all have the same sex chromosomes |
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Term
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Definition
| produce gametes with different sex chromosomes |
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Term
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Definition
| Mendel’s first law) each individual diploid organism possesses two alleles for any particular characteristic. These two alleles separate when gametes are formed and one allele goes into each gamete. |
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Definition
| all chromosomes shared in common between two sexes |
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Definition
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Term
| Genic sex determining system |
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Definition
| no sex chromosomes, only the sex determining genes males and females only have two sets of autosomes |
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Term
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Definition
XO: short stature, broad chest, webbed neck, gonadal disfunction, learning disabilities, diabetes,
cardiac disfunction, hypothyroidism |
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Term
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Definition
XXXY: often no symptoms, reduced fertility or sterility, germ cell tumors, breast cancer, you still get
gene expression from inactivated gene chromosomes which causes problems |
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Term
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Definition
| females with numerous X chromosomes: sterility or decreased fertility, tall and thin |
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Term
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Definition
X Chrom: contains genetic info essential for both sexes, at least one copy of an X is required
Y Chrom: male determining gene, a single Y (even in the presence of single X’s) will produce male phenotype
SRY gene: on Y chromosome and determines maleness |
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Term
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Definition
| equalizes amount of protein produced by X linked genes |
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Term
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Definition
results from inactive X chromosome (any time you inactivate an X chromosome) result of dosage
compensation |
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Term
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Definition
results from inactive X chromosome (any time you inactivate an X chromosome) result of dosage
compensation |
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Term
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Definition
when two different alleles are present in a genotype only the trait encoded by one of them (the dominant allele) is observed in the phenotype
dominance: only one trait observed
complete dominance: phenotype of heterozygote is the same as one of homozygote |
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Term
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Definition
| phenotype of heterozygote is intermediate between phenotypes of the two homozygotes |
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Term
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Definition
| phenotype of heterozygote includes phenotypes of both homozygotes (blood types) |
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Term
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Definition
percentage of individuals of a given genotype that expresses effective phenotype
Example : Huntington’s Disease
95% of people will have have Huntington’s Disease
5% with Hh will have no symptoms at all |
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Term
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Definition
variation in degree of expression of a given trait
Example : Marfan Syndrome |
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Term
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Definition
| products of nonallelic genes combine to produce phenotype |
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Term
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Definition
one gene masks the effect of another non allelic gene
epistatic gene: gene that does the masking
hypostatic gene: gene whose effect is masked |
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Term
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Definition
| everything that’s being transcribed |
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Term
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Definition
usually appear with equal frequency w/ males and females, tend to skip generations, more likely w/
incest |
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Term
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Definition
appear equally in males and females, unaffected persons do not transmit the trait, affected persons
have at least one affected parent |
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Term
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Definition
an affected male does not pass it onto his sons, but can pass onto daughter who will be a carrier of
trait who passes it onto son who will be affected, appear more frequently in males (ex: hemophelia, Duchenne Muscular Dystrophy) |
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Term
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Definition
do not skip generations, affected males pass on trait to all daughters and none of their sons, affected
females pass the trait on to about 50% sons and daughters |
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Term
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Definition
| appear only in males and man passes onto all sons |
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Term
| 3 essential characteristics of genetic material: |
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Definition
must be capable of storing large amount of info
variable
stable
genetic material must replicate faithfully
3. it must be translated into phenotypes |
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Term
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Definition
DNA is ds which means that it can be replicated by using a copying mechanism, it can vary (contain
enough genetic information in the sequences of bases), it’s mechanism for variability in genotype meant that
changes in genetic info (mutations) could result from errors in copying |
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Term
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Definition
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Term
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Definition
| base + sugar + phosphate group |
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Term
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Definition
| result from discontinuous DNA synthesis, occur in lagging strand of DNA replication |
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Term
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Definition
DNA polymerase doesn’t have accounting methods, sees similar codons and miscounts and wind up with
too many of a particular sequence |
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Term
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Definition
| stops dividing, leads to aging, prevents cancer |
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Term
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Definition
| Enzyme RNA polymerase makes RNA from DNA template |
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Term
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Definition
| non template strand) is not copied but has the same polarity and sequence as RNA produced |
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Term
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Definition
| template strand) gets copied |
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Term
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Definition
| most common nucleotide found at that position |
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Term
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Definition
| a site to which accessory proteins bind |
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Term
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Definition
| a site to which basal transcriptional machinery binds |
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Term
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Definition
| bind to enhancer sequences to increase the rate of transcription |
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Term
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Definition
| bind to silencers and decrease the rate of transcription |
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Term
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Definition
| adaptor molecules that integrate signals from activators and repressors |
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Term
| Basal Transcription Factors |
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Definition
| position RNA polymerase at the start of transcription to initiate transcription |
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Term
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Definition
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Term
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Definition
| non coding, intervening sequence |
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Term
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Definition
| every sequence related to one another in DNA and RNA |
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Term
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Definition
| increase protein diversity, needing fewer genes, and reducing the genome size |
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Term
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Definition
| translation of mRNA into aa sequence |
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Term
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Definition
| aa may be specified by more than one codon |
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Term
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Definition
pairing between the 3’ base of the codon and 5’ base of the anti codon less stringent than normal
pairing of the 3rd position is relaxed G in anti codon can pair with C or U (imperfect pairing) |
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Term
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Definition
| mRNA with several ribosomes attached |
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Term
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Definition
DNA methylation associated with transcriptional silencing
epigenetics: modifications that alter gene expression without activating DNA sequence |
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Term
| Transcriptional regulator proteins |
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Definition
have two distinct functions
bind DNA at a specific sequence
interact with transcriptional machinery to influence the rate of repression |
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Term
| Transcriptional activators |
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Definition
stimulate and stabilize basal transcriptional machinery at the core promoter, interact directly with
transcriptional machinery or indirectly through co-activators |
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Term
| Transcriptional repressors |
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Definition
often bind at core promoter to prevent transcriptional machinery from binding, interact directly
with transcriptional machinery, or indirectly through co-repressors |
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Term
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Definition
| blocks effects of enhancers |
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Term
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Definition
| RNA interference) turns off gene expression |
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Term
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Definition
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Term
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Definition
| group of interbreeding, sexually reproducing individuals with a common set of genes, the gene pool |
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Term
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Definition
| rapid continuous cell division |
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Term
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Definition
| normally produce factors that stimulate cell division |
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Term
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Definition
| produce factors that inhibit cell division |
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Term
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Definition
| non completely specialized cell |
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Term
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Definition
| can become any type of cell |
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Term
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Definition
| can become all of the various cell types of body except placental |
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Term
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Definition
| can become more than one cell type, usually tissue specific |
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Term
| Adult (somatic) stem cell |
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Definition
| multipotent, found in already developed tissues, function in repair and maintenance throughout life |
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Term
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Definition
transcription factor expressed in cells of the inner cell mass, prevents differentiation, and maintains
pluripotency |
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Term
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Definition
transcription factor, maintains self renewal of undifferentiated embryonic SCs involved in ability to divide
w/out differentiation |
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Term
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Definition
| transcription factor, stimulates cell proliferation, causes cancer |
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Term
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Definition
| transcription factor which regulates cell cycle and is involved in cell growth |
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Term
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Definition
| has an RNA genome and replicates using reverse transcriptase |
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Term
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Definition
double stranded
-sugar phosphate backbone complementary strands held together by nitrogenous bases
-wrapped around histone proteins to form a nucleosome complex and the whole things together is called chromatin
-for functions see Definitions |
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Term
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Definition
-both DNA and RNA contain 5 Carbon sugar, RNA is ribose, Hyroxyl Group at 2’ C
-ss
-secondary structures can be formed such as hair pins and stems
-function is to encode for proteins |
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Term
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Definition
endonucleases, bacterial enzymes, different strands produce different restriction enzymes, recognize and make ds cuts in DNA molecules at specific nucleotide sequences, recognize DNA of any organism, cuts DNA into defined and REPRODUCIBLE gene fragments, the basic tool of gene cloning
why: study a specific gene using restriction enzymes that can cut known sequences in gene so ECORi for example can have sticky ends when cut, so able to amplify and test for presence and how much DNA is present based on intensity of a band |
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Term
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Definition
| DNA replication in a lab setting (forced controlled replication) use it for direct cloning, genetic finger printing, assays for a particular infectious agent, determination of extinct species, takes everything you need to makea strand of DNA (primers, polymerase, DNTps, buffer, divalent cations) |
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Term
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Definition
reverse transcriptase PCR (rtPCR): used to amplify DNA from an RNA template
quantitative PCR (qPCR): used to quantify the exact starting amount of a template
real time PCR: method allows continuous measurement of accumulating PCR product (DNA) |
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Term
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Definition
| Function of the mechanisms by which we are able to perform PCR, what’s happening the gel that we’re out pores in gel, and DNA which has negative charge is going to be sent from negative side to positive side, so that current will force DNA strands to go through pores of gel, so bigger fragments will have a harder time moving through than smaller fragments. Function is to determine how many base pairs are in your DNA, use MSS to calculate unknown |
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Term
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Definition
(one sister chromatid to 2 sister chromatids)
During G1 the cell grows
Transcription and translation of enzymes and proteins needed for replication
cell can enter G0 (non dividing static phase)
G1/S Check Point cell is committed to divide after this point: checks that all enzymes are needed for replication are present
S phase: DNA duplicates, from there it enters G2 where cell prepares for mitosis
G2/M Check Point: checks for any damaged DNA |
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Term
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Definition
Prophase: chromosomes condense, each chromosome contains two chromatids and mitotic spindle forms
Prometaphase: nuclear membrane disintegrates and the spindle microtubles attach to chromatids
Metaphase: chromosomes line up at metaphase plate
Anaphase: sister chromatids separate and move toward opposite poles (double the amount of chromosomes, but ONLY there)
Telophase: chromosomes arrive at spindle poles and nuclear membrane reforms, and chromosomes relax
Simultaneous with telophase: cytokinesis, cytoplasm divides and cell wall forms |
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Term
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Definition
Prophase, Metaphase, Anaphase, Telophase (happens twice)
The difference in Mitosis and Meiosis
-Meiosis 2 is the same as mitosis
-Meiosis 1 is the same except it’s twice the number of sister chromatids that are joined instead of separate
-one round of division in mitosis the product is two diploid cells, chromosome number is maintained, and they line up individually at metaphase plate
-Meiosis has two rounds of division product is 4 haploid cells, chromosome number is halved during meiosis 1 and chromosomes pair during metaphase 1
Genetic Variation (only happens in meiosis 1) is unique to meiosis the first is crossing over (prophase 1) and the second is the random distribution of chromosomes in anaphase 1 |
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Term
| Which types of cells require telomerase |
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Definition
cells that undergo continuous cell division
single celled organisms
germ cells
early embryonic cells
proliferative somatic cells: bone marrow and intestinal lining |
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Term
| Prokaryotes Promoter and RNA coding region |
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Definition
Promoter indicates which of the two strands is the template
RNA coding region: DNA sequence that is copied into an RNA molecule |
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Term
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Definition
sigma associates with core enzyme to form the holoenzyme which binds to the -35 and -10 position in the promoter creating a closed complex
the holoenzyme unwinds the dsDNA creating an open complex transcription bubble
a nucleoside triphosphate complementary to the DNA at the start site serves as the first nucleotide in the RNA molecule |
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Term
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Definition
| two phosphates are cleaved off from each nucleoside triphosphate adding to the 3’ end of the growing RNA molecule, the first bond of the RNTPs are H-bonded to the template with 3 phosphates, every additional one will have a single phosphate, sigma will leave once the cell commits to transcription, once the RNA polymerase moves on past the promoter Conclusion: RNA transcription is initiated when core RNA polymerase binds to the promoter with help from sigma |
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Term
| Rho Dependent termination |
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Definition
| as soon as 5’ end is produced Rho attaches and as soon as Rho reaches polymerase it bumps off RNA polymerase and transcription stops |
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Term
| Elongation of prokaryotes |
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Definition
| during elongation: the DNA is unwound copying template strand and then being rewound |
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Term
| Rho-independent termination |
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Definition
| as soon as reverse complement sequences are produced they are allowed to H bond and they form a hairpin which causes the RNA to break off and DNA transcription stops |
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Term
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Definition
| functions in regulation of translation; platform for assembling translation machinery |
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Term
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Definition
| Contains binding sites for microRNA which are used to regulate gene expression; cap and tail are for protection (add guanine to 3 phosphate group to protect five prime end from degradation and add methyl groups) |
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Term
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Definition
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Term
| Alternative Splicing Reasonings |
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Definition
increase protein diversity
fewer genes are needed
reduce genome size
mechanism for construction of new genes
up to 60% of human genes are alternatively spliced |
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Term
| Gene expression regulation |
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Definition
Modification of chromatin structure
closed-inactivation
open-active
DNA methylation-transcriptional repression
histone acetylation-which causes it to be more open
RNAi |
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