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Genetics exam 4
Pop genetics, Eukaryotes
63
Biology
Undergraduate 2
05/06/2010

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Cards

Term
Promoter vs. Enhancer?
Definition
  • Promoter - lies close gene initiation site
  • Enhancer - can lie far away from a gene, can be pointing in any direction, Augment or repress basal levels of transcription
Term
Reporter Constructs are?
Definition
  • a tool for studying gene regulation
  • identify promoters and enhancers
Term

test used for finding cis elements?

trans elements?

Definition
  • promoter trap
  • mapping, biochemical studies for transcription factors
Term

promoter trap?

transcription factors are?

Enhancesome?

Definition
  • repeatedly cloning sections of DNA b4 a gene to find one that causes a difference in transcription( Enhancer trap as well)
  • protein that binds to target genes' cis acting elements (block enhancesome)
  • repressor or actvator
Term
What does RNA pol 1 make? 2? 3?
Definition
  1. makes rRNA
  2. recognizes promoter with one or more enhancers
  3. tRNA and other small RNA's(snRNA)
Term
Eukaryotic genes are always ...... meaning 1 gene/promoter
Definition
monocistronic
Term
order of proteins binding to promoter for transcription?
Definition
  1. TBP (TATA box binding protein) binds to promoter
  2. then TAF to TBP
  3. then RNA pol II to TAF
Term
Activator proteins are? do what?
Definition
  • TF's
  • interact with other proteins to activate and increase transcription of DNA by as much as 100 fold
Term
Two structural domains on Activators that determine function?
Definition
  • DNA binding domain
  • transcription-activator domain
Term
example of transcriptional factor?
Definition
  • steroid hormone
  • steroid binds to receptor to change its shape to allow it to bind to enhancer
  • zinc finger
  • helix-turn-helix
Term
proteins that affect transcription without binding to DNA?
Definition

Co-Activator

co-repressor

Term
How to find an activation domain?
Definition

take apart activator protein gene into sections and insert b4 a reporter gene

then see which section produces transcription

Term
Leucine Zipper is?
Definition
activator protein with dimerization domains
Term
Most eukaryotic activators must form.... to function?
Definition
dimers
Term

homomer

heteromer

Definition
  • multimeric proteins that contain identical subunits
  • multimeric proteins that contain nonidentical subunits
Term
repressors can affect the regulation of a gene in two ways?
Definition
  1. They can stop the activation of the gene, but the expression remains at basal levels
  2. they can completely stop transcription by binding to promoter
Term

Activator - repressor competition?

Quenching?

Definition
  • Activator and repressor compete for who binds the enhancer. if repressor binds, there is no activation
  • Quenching -1) the repressor binds to the activators DNA binding site  2)repressor binds to activation domain of activator

 

Term
action of TF's depend on
Definition
  • cell type
  • gene it is regulating
Term

Chromatin structure?

Genomic imprinting? epigenetic?

 

Definition
  • hypercondensation slows transcription
  • silendces transcription selectively if inherited from one parent. whatever is causing the silencing of the gene, it is not encoded in the DNA, but inherited from outside the gene
Term
Regulation after transcription by?
Definition
  • Protein modification
  • RNA splicing
  • RNA stability
Term
what does hypercondensation cause?
Definition
methylation of DNA
Term

What do methyl groups do?

how can they be detected?

insulator?

Definition
  • get in the way of RNA pol
  • use restriction enzymes that usually cut DNA but dont this time becuase DNA is methylated. RUn southern blot see differnces in length
  • insulated promoter blocks gene from enhancer activity
Term
what are structural blocks of transcription?
Definition
methylation and chromatin
Term
How might we detect if chromatin structure changes around a promoter
Definition
DNase sensitivity
Term
Chromatin remodeling can expose... creating?
Definition

promoter

DNase hypersensitive sites

Term
T/F methylation is only inherited from the paternal side?
Definition
false
Term

RNA interference  is?

miRNA's composed of?

Definition
  • trans acting single stranded microRNA's that regulate eukaryotic gene expression
  • 60-120 base pairs of sequence complimentiarity. regualtes after transcription
Term
miRNA processing?
Definition
  1. after transcription Drosha recognizes pri-miRNA and crops it out
  2. Actively transported into cytoplasm and recognized by dicer
  3. dicer forms a di-miRNA complex that is quickly turned into functional miRNA by RISC
Term
two modes of RNA interference?
Definition
  1. if miRNA is completely complementary to other RNA than it cleaves the RNA and it is rapidly degraded by RNase
  2. if miRNA is only partially complementary then it stays bound to the RNA and represses its espression
Term
locations of extranuclear DNA?
Definition
chloroplast, mitochondria
Term
attributes of human mitochondrial DNA? Yeast?
Definition
  • carries 37 genes, 16.5 kb in length, no introns
  • four times longer, 25% introns, spacers separate genes
Term
genetic code is not......
Definition
universal. same codons in mtDNA and regular DNA create linkage of different peptides
Term
mtDNA is found in?
Definition
nucleoid
Term

endosymbiont theory?

evidence?

Definition
  • the theory that eukaryotes engulfed bacteria cells and are living symbiotically together today
  • mt and cpDNA are similar to that of bacteria
  • inhibitors of bacterial translation have same effect on cp and mtDNA but not nuclear DNA.
Term
evidence of gene transfer from nucleus to organelles? organelle to organelle?
Definition
  • COXII gene - gene found in nuclear DNA in some plants and mt DNA in other plants
  • nuclear copy lacks introns suggesting an RNA intermediate
  • chunks of cpDNA are found in mtDNA

 

Term
mtDNA has a .... rate of mutation than nuclear DNA
Definition
higher
Term
in most species mtDNA is inherited from the...
Definition
mother
Term

heteroplasmic

homoplasmic

Definition

contain a mixture of organelle DNA

contain one type of organelle

Term
consequence of women with heteroplasmic LHON mutation after fertilization?
Definition
some cells produce low amounts of ATP while others are okay.  if cells with low production are in optic nerve then LHON mutation present
Term
heteroplasmy is known to be the cause of many rare....?
Definition
nervous system diseases
Term
what influences phenotype with mutant mtDNA
Definition
tissue in which it resides and percentage of mutant mtDNA
Term
in identical twins mtDNA genome is .... and nucear DNA is ....
Definition

different

same

Term
hypothesis of aging?
Definition
highly deleterious mtDNA replicates and increases mutation over time lowering ATP production in cells as one gets older.  Alzheimer's linked with low ATP production
Term
mechanism of uniparental inheritance
Definition
  • degradation of male gametes
  • paternal organelle genomes are distributed to cells that are destined to be destroyed
  • after fertilization the paternal organelle is destroyed
Term
5 assumptions of hardy weinburg law
Definition
  1. infinite population
  2. no mutation
  3. no immigration/emmigration
  4. random sex
  5. no selection
Term

evolution

micro?

macro?

Definition
  • changing of allele frequency over time
  • micro - generation to generation within a species
  • over geological time among species

 

Term

fitness

natural selection

Definition
  • ability to survive and pass on gene's
  • individuals with higher fitness reproduce more often than individuals with lower fitness
Term

Waht is W?

s?

Definition
  • recalibrating allele frequency due to selection
  • selection coefficient that subtracts from 1
Term
Therefore change in q is always?
Definition
negative
Term
why is selection unable to completely get rid of recessive alleles?
Definition
  • becuase the recessive allele can be maintained in heterozygotes who have no disadvantage, or may even have an advantage(malaria)
Term
Evolutionary equilibrium?
Definition
a balance between mutation to a new allele to selection against the allele
Term
what if a genetic disease has a late onset?
Definition
then it has no negative effect on reporduction and the passing of the alleles
Term
genetic drift?
Definition
chance fluctuations in allele frequency that have neutral effect on fitness
Term
Founder effect?
Definition
  • is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population
  • could lead to speciation and evolution of new species (forms new equilibrium for sure)
Term
factors that contribute to fast evolution of resistance in bacteria
Definition
  1. fast life cycle
  2. strong selection by antibiotics
  3. human error
  4. large population densities
  5. variety of ways genes are transfered
Term

multifactorial

quantitative

polygenic

Definition
  • multiple factors that contribute to a trait either biological or environmental
  • continous trait that varies of a range measurement
  • quantitative trait that is controlled by two or more genes
Term

difference from curve to mean in identical plants is?

difference from curve to curve is?

Definition

environmental variance

genetic variance

Term
heritability is?
Definition
the proportion of phenotypic variance connected with genetic variance
Term
heritability of 1 means? 0?
Definition
  • straight line - correlation between parent and offspring having the same attributes
  •  random no correlation between parent and offspring
Term
haplotype? purpose of haplotype?
Definition
  • combination of markers
  • look for combination between haplotype and disease phenotype
  • helps narrow down chromosome function and markers that are linked to disease
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