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which nucleotide is methylated?


amino acids necessary for purine synth?


nucleotide precursors?

IMP for purines
Orotate + PRPP for pyrimidines

metabolic pathways for carbamoyl phosphate?

de novo pyrimidine synth
urea cycle

cause of orotic aciduria?

(AR) can't convert orotic acid to UMP (pyrimidine synth)


A, G


C, T, U

OTC def vs orotic aciduria?

hyperammonemia in OTC (b/c defective urea cycle), not in orotic aciduria

major cause of SCID?

adenosine deaminase deficiency (purine salvage)

adenosine deaminase def?

excess ATP imbalances nucleotide pool via inhib of ribonucleotide reductase, thus no DNA synth so low lymphocytes

deficiency in Lesch Nyhan?

HGPRT, which is supposed to convert hypoxanthine to IMP, and guanine to GMP (purine salvage)

dx if 'sand' in diaper or 'diamonds' in urine?

excess uric acid (e.g. Lesch-Nyhan)

fx of DNA pol III?

5->3 synth and 3->5 exonuclease proofreading

fx of DNA pol I?

excises RNA primer 5->3 then fills in gap

mutation for xeroderma pigmentosum?

nucleotide excision repair of thymidine dimers

nucleotide excision repair defect of thymidine dimers causes...?

xeroderma pigmentosum

mutation for HNPCC?

mismatch repair

mismatch repair defect best known in what disease?


natural RNA pol II inhibitor?

alpha-amanitin found in death cap mushrooms, ingestion leads to liver failure

what disease includes antibodies to spliceosomal snRNPs?


universal 3' end of tRNA?


accuracy of amino acid selection insured by...?

aminoacyl-tRNA synthetase (scrutinizes before and after)

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