1.7.2013(Molecular Biology) 54 Flashcards
Drugs that can cause Orotic aciduria
Allopurinol(competes with orotate)
6-azauridine(inhibits OMP decarboxylase)
Rx of Orotic aciduria
Uridine
Combined uraciluria-thyminuria enzyme deficiency
Dihydropyramidine dehydrogenase
Source of methyl group for thymine synthesis
N5,N10 methylene tetrahydrofolate
PEG ADA therapy
Only immunologic defects are corrected
Neurodevelopmental defects are not reversed
Purine nucleoside phosphorylase deficiency
Autosomal recessive
Only T cells affected
More common neurodevelopmental defects
Which life forms don’t synthesise purine and pyramidine nucleotides
Protozoa
Pyramidines occur in
Thiamine
DNA
RNA
Purines are found in
Coenzyme A
NAD
FAD
NADP
Number of base pairs per turn
10.5
Z DNA is found in
Poly GC rich regions
Z DNA
Left handed helix
Zigzag backbone
Inclination of base pairs with respect to axis of helix in different forms of DNA
19’(A)
1.2’(B)
9’(Z)
Bromodeoxyuridine is a ___________ analogue
Thymidine
mtDNA
37 genes
2 rRNA
22 tRNA
13 proteins
Start codon in mitochondria
AUA
Nuclear DNA codes for isoleucine
Stop codons in mitochondria
AGG
AGA
nuclear DNA codes for Arginine
UGA in mt DNA codes for
Tryptophan
Number of copies of mt DNA in a mitochondria
2-10
Mitochondrial disorders without maternal inheritance
Pearson
CPEO
KSS
Repetitive sequences of DNA are found in
Telomeres
Centromeres
Percentage of exons
1.5%
Protein with highest number of introns
Muscle protein titin
Satellite DNA
Simple sequence repeats
Telomere binding proteins
TRF1
TRF2(involved in formation of T loop)
Telomere repeat binding factors
DNA fibril
Chromatin fibril
Groups of nucleosomes
Chromatin fibre
6 DNA fibrils
Organisation of DNA(along with packing ratio)
Naked double stranded DNA(1) chromatin fibrils(7-10) Chromatin fibres(40/60 or 100) Loops(domains)(8000) Rosette(6 loops) Coils(30 rosettes) Chromatids(10 coils)
Central role in nucleosome formation
H3 H4
Phasing
Non random preferential binding of histones to AT rich region in DNA
How eukaryotic DNA is underwound?
Topoisomerases relax the unbound positive supercoils
Negative supercoils attached to histone core is unaffected
Most conserved histones among eukaryotes
H3-H4
Histone modifications that activate or inhibit gene transcription
Methylation
Acetylation of H3H4
Monoubiqutilation
SMC proteins
Structural maintanence of chromosome proteins
- Cohesins
- Condensins
- Kleisin
First two form positive supercoils
Linking number
Number of basepairs/number of base pairs per turn
Super helical density
Specific linking difference(sigma)
Number of turns removed relative to number of turns present in relaxed uncoiled DNA
Normal sigma of cellular DNA
-0.05 to -0.07(5-7%)
Linking number change difference btw topoisomerase 1 and topoisomerase 2
Topoisomerase 1 changes linking number by 1
Topoisomerase 2 changes linking number by 2
Dna with helicase activity
DnaB
DNA gyrase
Can remove both negative and positive supercoils
Can insert negative supercoils