Genomemetronomechickenboneashytone ass nigga Flashcards
where are chromosomes located
nucleoplasm
what are the closed and open chromatid regions in interphase chromosomes called
closed - heterochromatin
open - euchromatin
out of euhcromatin and heterochtomatin, which one transcribed and why
euchromatin is typically transcribed because it is relaxed and open
what is the function of chromosomal territories (TAD’s)
topologically associated domains help separate heterochromatic and euchromatic regions
what determines wether a chromatin is open or closed
histone modifications dictate wether the chromatid is a eu/heterochromatid
difference between cis/trans-acting non-coding regions
cis - is not transcribed
trans - are transcribed - RNA
what are the 4 flavours of gene variations
SNP - single nucleotide polymorphisms
IDP - insertion deletion polymorphisms
SSR - simple sequence repeats
CNV - copy number variants
why do CNV class of mutations occur and what are the consenquences
unequal crossing over during mitosis 1
phenotypes can vary tremendously
Mendel’s first postulate
an organism inherits 2 alleles for each gene, one from each parent
Mendel’s second postulate
if the alleles are heterozygous, the dominant allele determines the phenotype
Mendel’s 3rd postulate, 1st law
during gamete formation, the two alleles segregate randomly, one to each pole
if they are homozygous them all the gametes will contain the same allele
if heterozygous, the half of the gametes will contain one and the other half will contain the other allele
what is the genotypic and phenotypic ratio of F2 of parents that are homozygous recessive and the other homozygous dominant
genotypic ratio - 1:2:1
phenotypic ratio - 3:1
Mendel’s 4th postulate, 2nd law
independent assortment - genes on a chromosome assort independently on their gene locus to other genes on different loci
evident in dihybrid inheritance
in dihybrid inheritance with parents with both genes heterozygous (TtRr x TtRr) what is the phenotypic ratio
9:3:3:1
what is reciprocal recessive epistasis, and what is the ratio
in dihybrid inheritance, a dominant allele must be present in both genes for the gene to be expressed
9:7
what is dominant epistasis, and the ratio
one dominant allele on one gene produces the same phenotype regardless of the status of the alleles on the other gene
12:3:1
what are duplicate dominant genes with cumulative effects and the phenotypic ratio
when a single dominant allele on a gene changes supresses a specific phenotype, both alleles on a single gene must be recessive for the gene to be expressed,
when both genes are homozygous recessive, it produces another phenotype
AaBb - 9
Aabb/BBaa - 6
aabb - 1
dominant and recessive, and the ratio
dominant allele from one gene and a recessive allele from the other gene produce the same phenotype
13:3
difference between differentiation and determination
determination - internal mechanisms determine the identity of the cell
differentiation - changes in cell morphology and other characteristics to become specialised
difference between pluri/multipotent cells and totipotent
pluripotent - can become several cells
totipotent - can become all cell types
what is loose binding
the core of RNA polymerase has a specificity for DNA
in bacterial RNA polymerase what is the function of the alpha sub-units
enzyme assembly
promotor recognition
binds to some activators
what is the function of the beta sub-units in bacterial RNA polymerase
they are the catalytic centre of the enzyme
what is the function of the sigma sub-unit in bacterial RNA polymerase
promoter specificity, ensures binding at promoter sequence only
what sub-unit of bacterial RNA polymerase is required for the initiation step
sigma
what part of bacterial RNA polymerase is required for elongation
core enzyme
what is sigma sub-unit 32 induced by
high temperatures
what sigma sub-units are for general use and nitrogen
general - sigma sub-unit 70
nitrogen - sigma sub-unit 54
when a promotor region is poorly recognised by RNA polymerase, what is used to activate it
catabolic activator protein (CAP)
how does glucose affect the lac operon
high glucose leads to low cAMP which leads to low CAP leading to no transcription
vice versa for low glucose levels
out off the following, which is the only one that would lead to an active lac operon low glucose, low lactose high lactose, low glucose high lactose, high glucose high glucose, low lactose
high lactose, low glucose
how does lactose affect the lac operon
high lactose leads to lactose binding to the repressor protein, inactivating it, activating the lac operon
vice versa for low lactose
what is SP1, where is it found and what does it bind to
a transcriptional activator that confer general expression
found in all cell types
binds to GGGCGG
what is MyoD, where is it found and what does it bind to
a transcriptional activator that confers tissue specific expression
muscle-specific
binds to CANNTG
name a transcriptional factor that confers response to specific stimuli
oestrogen
how do histone acetyl transferase allow RNA polymerase to bind to a histone
acetylation of the lysines in the tail of the histone neutralises the charge
leads to a reduced affinity in the tail for DNA
opens up DNA for RNA polymerase to bind
what are the 2 domains of a histone
amino-tail
globular
purpose of histone de-acetylase
removes the acetyl group from the lysines in the tail to restore affinity and close down the DNA
preventing RNA polymerase from binding
what base is usually methylated in DNA
C
what is the gene number and genome size of humans
gene number - 31,000
genome size - 3,200
what is the gene number and the genome size of bacteria
gene number - 4000
genome size - 4
what is gene density
number of genes per genome size(mb)
what are the gene densities of human, mice, fly, yeast
human - 9
mice - 14
fly - 83
yeast - 512
what can causes chromosomal abnormalities
chemicals
radiation
errors in replication
what is monosomy
loss of a single chromosome
what is cri-du-chat syndrome
missing a small part of chromosome 5
1/50,000 infants
severe mental retardation
physical abnormalities
what is trisomy
gain of chromosome to a diploid chromosome
what causes down syndrome and the effects
trisomy at chromosome 21, only trisomy with a longer survival rate
respiratory diseases
heart malformations
15x higher leukemia rate
what are spontaneous causes for mutation
replication errors
deamination
tautomerisation
induced causes of mutation
radiation/UV
base analogues
intercalating agents
what are the chances normal replication will introduce an incorrect base
once every 10 to the power of 10
good chance it gets repaired as well
what are spontaneous structural alterations in DNA bases called
tautomerizations
what does the amino group of A and C tautomerize into
NH, imino group
what does the C=O, keto group of G and T tautomerize into, and what are the effects
C-OH, enol group
enol group binds a G instead of an A
example of an intercalating agent
ethidium bromide
example of a base analogue
bromouracil (T analogue)
what does CFTR (cystic fibrosis transmembrane conductance regulator) encode for
Cl- ion transporter
what does a mutant CFTR cause
doesn’t allow transport of chlorine ions out the cell which causes sticky mucus to build up around the cell
what is the location and name of the amino acid that is deleted that causes cystic fibrosis
deletion of phenylalanine at 508
what causes huntington’s disease
a tri-nucleotide repeat
inheritance of a defective huntingtin gene
what trinucleotide is repeated that causes huntingon’s disease
CAG
what type of genetic disease is huntington’s and cystic fibrosis
huntington’s - dominant autosomal
cystic fibrosis - recessive autosomal
what mutation causes breast cancer
mutation in BRAC1 or 2
where are BRAC1 and 2 located
BRAC2 - chromosome 13
BRAC1 - chromosome 17