Publication Date:
1990-09-14
Description:
Direct genomic sequencing revealed that cytosine residues known to have undergone a germ-line mutation in the low density lipoprotein receptor gene or somatic mutations in the p53 tumor suppressor gene were methylated in all normal human tissues analyzed. Thus, these mutations should be scored as transitions from 5-methylcytosine to thymine rather than from cytosine to thymine. Methylated cytosines occur exclusively at CpG dinucleotides, which, although markedly underrepresented in human DNA, are sites for more than 30 percent of all known disease-related point mutations. Thus, 5-methylcytosine functions as an endogenous mutagen and carcinogen in humans, in that methylation seems to increase the potential for mutation at cytosine residues at least by a factor of 10.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rideout, W M 3rd -- Coetzee, G A -- Olumi, A F -- Jones, P A -- R35 CA49758/CA/NCI NIH HHS/ -- T32 CA09569/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1990 Sep 14;249(4974):1288-90.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Urological Cancer Research Laboratory, Kenneth Norris Jr. Comprehensive Cancer Center, University of Southern California, Los Angeles 90033.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1697983" target="_blank"〉PubMed〈/a〉
Keywords:
5-Methylcytosine
;
Base Sequence
;
Cytosine/*analogs & derivatives/physiology
;
Deoxyribonuclease HpaII
;
Deoxyribonucleases, Type II Site-Specific
;
Dinucleoside Phosphates/genetics
;
Guanosine
;
Humans
;
Leukocytes
;
Male
;
Methylation
;
Molecular Sequence Data
;
*Mutation
;
Oncogene Proteins/*genetics
;
Phosphoproteins/*genetics
;
Polymerase Chain Reaction
;
Receptors, LDL/*genetics
;
Spermatozoa
;
Tumor Suppressor Protein p53
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
