Final Flashcards
What does the sliding clamp need to attach to DNA Polymerase?
Clamp loader and ATP
Role of DNA Polymerase Alpha?
With primase, it synthesizes RNA-DNA primer
What is the role of DNA polymerase epsilon?
Synthesizes leading strand
What is the role of DNA Pol delta?
Synthesizes lagging strand and fills in gaps
What is the role of FENI?
removes primers
Which strand is elongated by telomerase?
parent strand
After telomerase adds GGGTTA sequence, what is created to distinguish DNA ends from broken ones?
T loop
3’ end longer and tucks to protect ends
Describe dyskeratosis congenita
Patients carry mutant telomerase RNA gene. There are premature shortened telomeres
What neutralizes DNA in its chromatin form?
Lysine and Arginine residues in Histones: have a positive charge that neutralizes the DNA negative charge
Describe depurination
purines are removed due to spontaneous hydrolysis. 5,000 purines lost per day
Describe deamination
NH3 group removed due to hydrolysis
A->H
G->X
C->U
Describe the issue with methylated cytosine
Accounts for 1/3 of point mutations associated with inherited diseases
Deamination of methyl-C ->T
There is a special DNA glycosylase that removes the T but sucks at its job
What does direct repair fix and with what enzymes?
Pyrimidine dimers
DNA photolyase
What does BER fix and with what enzymes?
Depurination, single-base mismatch
Glycosylase, AP endonuclease, phosphodiester, DNA Pol beta, and DNA ligase
What does NER fix and with what enzymes?
Chemical adducts that distorts DNA
NER protein complex, DNA pol epsilon, and DNA ligase
What does MER fix and with what enzymes?
Mismatched base in daughter strand
MER complex, helicase/endonuclease, DNA Pol delta, DNA ligase
What DNA repair mechanism causes cockayne’s syndrome?
Transcription-coupled repair. RNA Pol stalled
Growth retard, skeletal abnormal, sensitive to UV
What can happen to the FMRI gene if there are more that 200 copies of CGG?
Susceptible to methylation of cytosine and gene becomes silenced
What is the sequence on the tRNA that binds to amino acids?
3’CCA
What catalyzes the activation of amino acids and transfers amino acids to tRNA? and how?
Aminoacyl tRNA synthetases
Catalyzes the activation of aa by transferring AMP to COOH end
Transfers aa from aa-AMP to cognate tRNA
What is silent mutation?
No change of aa
What is missense mutation
Changes aa in protein with no effect
What is nonsense mutation?
Stop codon, null mutation
What is frameshift mutation?
One or more nucleotide are deleted or inserted into open reading fram
What is are the start and stop codons?
Start: AUG
Stop: UAA, UAG, UGA
What is snRNA?
Direct splicing of pre-mRNA to form mRNA
What is siRNA?
Regulate eukaryotic gene expression by degrading select mRNA
What is miRNA?
regulates gene expression by blocking translation of select mRNA
What is a polysome?
Many ribosomes on one mRNA
Describe the cytoplasmic pathway
For proteins destined for cytosol. Mitochondria, nucleus, and peroxisomes
Describe the secretory pthway
For proteins destined for ER, lysosomes, secretion, or membranes
What protein binds to ER-target signal and ribosome during translation? What does it do?
SRP - wraps itself around ribosome - mRNA complex, tethering it to ER membrane and halting translation temporarily
Large proteins are at rrisk for aggregation and proteolysis, what can help get the protein to its native form?
Chaperons or chaperonins
What is the function of proteolytic cleavage?
Converts inactive forms to activated enzymes
Converts nascent precursor proteins to mature ones
What is the Law of Segregation?
Sexually reproducing organisms possess genes that occur in pairs and only one member of this pair is transmitted to offspring
What is the Law of Independent Assortment
The allele transmitted at one locus has no effect on which allele is transmitted at the other
Describe Class 1 - 6 CFTR enzyme defects
CFTF - Cl- channel
Class 1: has gene but not expressing protein
Class 2: so unstable its marked for degradation->proteosome
Class 3: Makes it to membrane but not regulated
Class 4: Does not transport well
Class 5: Protein normal but under produced
Class 6: Accelerated turnover
What causes PKU?
PAH enzyme defective and causes Phe to build dup
What is recurrent risk?
Probability subsequent children will also have disease
What is occurrence risk?
Parents at risk, no children-what are the chances of children getting disease
What is Penetrance?
Frequency a gene manifests itself
What is expressivity?
It is the range of phenotypes for a genotype
What is locus heterogeneity? Give an example
Single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci
Example-osteogenesis imperfecta - loci at 7 and 17; either mutation = same phenotype
What is probability?
The proportion of times that a specific outcome occurs in a series of events between 0 and 1
What is the multiplication rule?
The probability of two or more independent events occurring together
Key word = ‘and’
What is the addition rule?
The probability of any two or more mutually exclusive events
Key = ‘either’ and ‘or’
Describe gene frequency
Specifying the proportions of each allele in a population
Describe genotype frequence
Specifying proportions of each genotype in a population
Describe polygenic
Traitss in which variation caused by combined effects of multiple genes
Describe multifactorial
When environmental factors cause variation in trait
Describe the Threshold Model
For diseases that do not follow the bell-curve distribution, there is an underlying liability distribution
For multifactorial diseases that are either present or absent, it is thought that a threshold of liability must be crossed before disease is expressed
i.e. pyloric stenosis-muscular hypertrophy btwn stomach and duodenum. 5x more common in men
What is genetic drift?
Random evolutionary process that produces larger changes in gene frequency in smaller populations
What is the founder effect?
populations that have started from a small group of individuals that mix with few newcomers, preferring to mate within the population, is a special case of genetic drift
What happens in prophase?
Chromosomes condense, spindle microtubules form, nuclear envelop breaks, chromosomes are captured by spindle microtubules
Where do spindle microtubules originate from?
Centrioles
What are the three checkpoints in a cell life cycle?
G1->S
G2->M
M
What keeps chromatids attached and facilitates spindle attachment?
Cohesin
Also facilitates recombination
When does crossing over occur?
During prophase I in meiotic cell division. Enzymes cut and then graft ends of homologous chromosomes together.
What is recombination?
– If the exchanged segments carry different alleles, genetic
recombination has occurred
• The genes on one homologue are thus combined with an allele from the other homologue, and the combination may be totally new
How are chromatids of the maternal and paternal homologues together so that they align precisely along their entire lengths?
Proteins
Synaptonemal coomplex
What is a chiasmata?
After crossing over, the binding proteins and enzymes then depart, leaving crosses or chiasmata (singular, chiasma),
where the maternal and paternal chromosomes have exchanged parts
How does meiosis create genetic diversity?
Meiosis creates genetic
diversity in two ways:
-Random segregation of homologs during meiosis
-Crossing over
What allows X and Y chromosomes to line up?
Small region of homology between X and Y called pseudoautosomal
region allows them to pair.
What is a 4 chromatid structure called?
Bivalent
When do sister chromatids separate in meiosis?
Anaphase II
What are imprinted genes?
Genes that are methylated and down regulated
Until ovulation, female gametes are arrested in what stage of meiosis?
diplotene
What is aneuploidy?
Cells with abnormal chromosome number
Can occur due to non-disjunction which mostly happens during MI
Edwards syndrome is caused by what aneuploidy ?
Trisomy 18