biochem: molecular Flashcards
heterochromatic
condensed, darker on EM, inactive, inaccessible. e.g. Barr bodies
euchromatin
less condensed, lighter on EM. active, accessible.
DNA methylation
template strand cytosine and adenine are methylated in DNA replication, allowing repair enzymes to distinguish old and new strands. methylation at CpG islands represses transcription
histone methylation
usually reversibly represses transcription, but sometimes activates it (depending on location).
histone acetylation
relaxes DNA coiling, allowing for transcription
purines
2 rings. A, G. PURe As Gold
pyrimidines
1 ring. C, T, U. CUT the PY
thymine
THYmine has a meTHYl
deamination of cystosine makes
uracil
G-C bond
= 3 H bonds = stronger than A-T bond (2 H bonds). so more G-Cs -> higher melting temp
AAs necessary for purine synthesis
GAG = gylcine, aspartate, glutamine
adenosine deaminase deficiency
autosomal recessive cause of SCID. excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase -? prevents DNA synthesis, so decreases lymphocyte count
lesch-nyhan syndrome
defective purine salvage due to avsent HGPRT, which concerts hypoxanthine to IMP and guanine to GMP. results in excess uric acid production and de novo purine synthesis. x-linked recessive. HGPRT: hyperuricemia, gout, pissed off (aggression, self-mutilation), retardation, dysTonia. Tx w/allopurinol or febuxostat
origin of replication
particular consensus sequence of base pairs in genome where DNA replication begins. may be single (prokaryotes) or multiple (eukaryotes)
replication fork
y-shaped region along DNA template where leading and lagging strands are synthesized
helicase
unwinds DNA template at replication fork
single-stranded binding proteins
prevent strands from reannealing
DNA topoisomerases
create a single- or double-stranded break in the helix to add or remove supercoils. fluoroquinolones inhibit prokaryotic topoisomerase II (DNA gyrase) and topoisomerase IV
primase
makes an RNA primer on which DNA polymerase II can initiate replication
DNA polymerase III
prokaryotic only. elongates leading strand by adding deoxynucleotides to the 3’ end. elongates lagging strand until it reaches primer of preceding fragment. 3’->5’ exonuclease activity “proofreads” each added nucleotide. 5’->3’ synthesis, 3’->5’ proofreading.
DNA polymerase I
prokaryotic only. degrades RNA primer, replaces it w/DNA. similar to DNA polymerase II but also excises RNA primer w/5’->3’ exonuclease
DNA ligase
seals = catalyzes the formation of a phosphodiester bond w/in a strand of double-stranded DNA (i.e. joins Okazaki fragments).
telomerase
RNA-dependent DNA polymerase that adds DNA to 3’ ends to avoid loss of genetic material w/every duplication. eukaryotes only.
DNA damage mutations severity
silent«frameshift
SS mutation
missense (glu-valine)
duchenne muscular dystrophy mutation
frameshift
lac operon
activated in low glucose conditions when lactose is present, allowing lactose metabolism instead