Biochem 1 USMLE Flashcards
full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the d?
PKU
Stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner, and becomes hypoglycemic. What is the mechanism?
NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
2 y/o girl has an increase in abd girth, failure to thrive and skin and hair depigmentation. What is the dx
kwashiorkor
alcoholic develops a rash, diarrhea, and altered mental status. What is the vitamen deficiency
vit B3 (pellagra)
51 y/o man has black spots in his sclera and has noted that his urine turns black upon standing. What is the dx
alkaptonuria
25 y/o male complains of severe chest pain and has xanthomas on his achilles tendons. What is the dz, and where is the defect?
familial hypercholesterolemia; LDL receptor
Condensed by (-) charged DNA looped twice around (+) charged H2A, H2B, H3, & H4 histone octamers (nucleosome bead). H1 ties nucleosmes together on a string (30-mm fiber). In mitosis, DNA condenses to form mitotic chromosomes.
Chromatin sx–image 77
note: Think of beads on a string
this type of chromatin is condensed, transcriptionally inactive
heterochromatin
this type of chromatin is less condensed, transcriptionally active
euchromatin
eu=true, “truely transcribed.”
purines are _____ & _____ and have _____ ring/s.
pyramidines are _____,_____, &______
A,G (2 rings)
C,T,U (1 ring)
mneu: PURe As Gold: PURines.
CUT the PY (pie)
Guanine has a _______
ketone
Thymine has a ______
methyl
mneu: THYmine has a meTHYl
Deamination of cytosine makes a _____
uracil
uricil is found in this nucleic acid
RNA
thymine is found in this nucleic acid
DNA
This bond has 3 H bonds and is therefore stronger that this bond which only has 2 H bonds
G-C bond > A-T
nucleotides with a higher G-C means a higher this
melting temperature
nucleotides are linked by this type of bond
3’-5’ phosphodiesterase bond
this refers to substituting purine for purine or pyrimidine for pyrimidine
transition
mneu: TransItion=Identical types
this refers to substituting purine for a pyrimidine or pyrimidine for purine
Transversion
mneu: TransVersion=conVersion between types
this feature of the genetic code refers to the fact that each codon specifies only 1 amino acid
unambiguous
this feature of the genetic code refers to the fact that more than 1 codon may code for the same amino acid
degenerate
the genetic code is universal (exceptions include mitochondria, archaeobacteria, mycoplasma, and some yeast) T or f
T
this mutation in dna often involves the same AA, it is often a base change in the 3rd position of codon (tRNA wobble).
silent
this mutation in dna involves a changed AA (conservative-new AA is similar in chemical sx)
missense
this mutation in dna often involves a change resulting in an early STOP CODON
nonsense
mneu: stop the nonsense
this mutation in dna often involves a change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein
frame shift
Single origin of replication in prokaryotic DNA replication by DNA polymerases refers to ________ DNA synthesis on the leading strand and _______ on the lagging strand
Continuous
Discontinuous (Okazaki fragments)
DNA polymerase III has ____ synthesis and proofreads with ______ exonuclease
5’->3’
3’->5’
DNA polymerase I excises RNA primer with ____ exonuclease
5’-3’
these create a nicks in the helix to relieve supercoils
DNA topoisomerase
this makes an RNA primer on which DNA polymerase III can initiate replication
Primase
this elongates the chain by adding deoxynucleotides to the 3’ end until it reaches primer of preceding fragment. 3’ ->5’ exonuclease activity “profreads” each added nucleotide.
DNA polymerase III
this degrades RNA primer
DNA polymerase I
this seals
DNA ligase
eukaryotic genome has _____ origins of replications
multiple
replication begins at a consensus sequence of ____ base pairs
AT
eukaryotes have seperate polymerases ______ for synthesizing RNA primers, leading-strand DNA, mitochondrial DNA, and DNA repair
(αβδγε)
describe DNA repair of single strand
single strand, excision repair-specific glycosylase recognizes and removes damaged base. Endonuclease makes a break several bases to the 5’ side. Exonuclease removes a short stretch of nucleotides. DNA polymerase fills gap. DNA ligase seals.
DNA repair defects regarding skin sensitivity to UV light results in this dz
xeroderma pigmentosum
DNA repair defects regarding x-rays results in this dz
ataxia-telangiectasia
DNA repair defects regarding radiation results in this dz
Bloom’s syndrome
DNA repair defects regarding cross-linking agents results in this dz
Fanconi’s anemia
xeroderma pigmentosum is this inheritance
autosomal recessive
XP results in defective excision repair such as uvr ABC endonuclease. It results in inability to repair _____, which form in DNA when exposed to UV light.
thymidine dymers [image p. 79]
XP is associated w/ these things
dry skin, melanoma, & other CA
DNA & RNA are both synthesized in this direction
5’ ->3’
The 5’ of the incoming nucleotide bears the ______ . The 3’ hydroxyl of the nascent chain is the target
triphosphate (energy source for bond
mneu: Imagine the incoming nucleotide bringing a gift (triphosphate) to the 3’ host. “BYOP (phosphate) from 5 to 3”
Protein synthesis procedes in this direction
5’ ->3’
amino acids are linked in this way
N to C
mRNA is the _____ type of RNA
rRNA is the most _____ type of RNA
tRNA is the ______ type of RNA
massive, Rampant, Tiny
In prokaryotes this makes all 3 kinds of RNA
RNA polymerase
In eukaryotes, ________ makes rRNA
RNA polymerase I
mneu: I,II, III are numbered as their products are used in protein sythesis
In eukaryotes, ________ makes mRNA
RNA polymerase II
mneu: I,II, III are numbered as their products are used in protein sythesis
In eukaryotes, ________ makes tRNA
RNA polymerase III
mneu: I,II, III are numbered as their products are used in protein sythesis
eukaryotic RNA polymerase has no ________ fx, but can initiate chains
proofreading fx
RNA polymerase II opens DNA at _________
promoter site (A-T rich upstream sequence —TATA and CAAT).
this poison is found in death cap mushrooms and works by inhibiting RNA polymerase II
alpha-amantin
what is the mRNA initiation codon
AUG (or rarely GUG)
mneu: AUG inAUGurates protien synthesis
in eukaryotes AUG codes for this, which may be removed before translation is completed
methionine
in prokaryotes the initial AUG codes for ________
formyl-methionine (fmet)
Give stop codons
UGA,UAA,UAG
mneu: U Go Awau, U Are Away, U Are Gone
In the regulation of gene expression, this is the site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus
promotor
promoter mutation commonly results in this
dramatic decrease in amount of gene transcribed
In the regulation of gene expression, stretch of DNA that alters gene expression by binding transcription factors. May be located close to, far from, or even within (in an intron) the gene whose expression it regulates
enhancer
In the regulation of gene expression, this is the site where negative regulators (repressors) bind.
operator
These contain actual genetic information coding for proteins
exons [image p. 80]
mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed
These are intervening noncoding segments of DNA
introns
mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed
Introns are precisely spliced out of primary mRNA transcripts. A lariat-shaped intermediate is formed. ___________ facilitate splicing by binding to primary mRNA transcripts and forming splicosomes.
small nuclear ribonucleoprotein particles (snRNP)
RNA processing in eukaryotes occurs in the _______, after transcription.
nucleus
only _______ is transported out of the nucleus
processed RNA
describe RNA processing in eukaryotes (3 steps)
[image p. 80]
1) capping on 5’ end (7-methyl-G)
2) Polyadenylations on 3’ end (-200 As)
3) Splicing out of introns
what is the initial transcript of RNA processing (eukaryotes) called
heterogeneous nuclear RNA (hnRNA)
capped and tailed transcript is called _______
mRNA
tRNA sx consists of 75-90 nucleotides, cloverleaf form, anticodon end is opposite 3’ aminoacyl end. All tRNAs, both eukaryotic and prokaryotic, have CCA 3’ end along w/ a high percentage of chemically modified bases. The amino acid is covalently bound to the ___ end of the tRNA.
3’
1 of these is used up per AA, it uses ATP and scrutinizes AA before and after it binds to tRNA. If incorrect, bond is hydrolyzed. The AA-tRNA bond has energy for formation of peptide bond.
Animoacyl-tRNA synthetase
A mischarged tRNA reads usual codon but inserts the ______
wrong AA
___________ and binding of charged tRNA to the codon are responsible for accuracy of amino acid selection
aminoacyl-tRNA synthetase
this describes how accurate base parining is required only in the 1st 2 nucleotide positions of an mRNA codon, so codons differing in the 3rd position may code for the same tRNA/amino acid
tRNA wobble
In ribosome protein synthesis Met sits in the ______ site
P site(peptidyl)
In ribosome protein synthesis, the incoming amino acid binds to the _____ site, hydrolyzing Met’s bond to its tRNA while simulatneously forming a peptidyl bond between 2 amino acids.
A site (aminoacyl)
The ribosome shifts 1 codon towards the 3’ end of the mRNA, shifting the uncharged tRNA into the __ position and the dipeptidyl tRNA into the __ site
E
P
ATP is used for this with tRNA
Activation (charging)
GTP is used for this with tRNA
Gripping and Going places (translocation)