Document Detail

Determination of ancestral allele for possible human cancer-associated polymorphisms.
MedLine Citation:
PMID:  18068529     Owner:  NLM     Status:  MEDLINE    
To determine ancestral allele in possible cancer-associated polymorphisms, DNA samples from 10 chimpanzees (Pan troglodytes) were sequenced for alleles corresponding to 17 polymorphisms: 8 short tandem repeats [IL1RN (alias IL-1RA) variable number tandem repeat (VNTR); TYMS (previously TS) VNTR; AR CAG repeat; dinucleotide repeats of UGT1A1, IGF1, IFNG (alias IFN-gamma), ESR1 (alias ER-alpha), and EGFR] and 9 single nucleotide polymorphisms (MMP1-1607 1G/2G, MMP3-1171 5A/6A, OGG1 Ser326Cys, ALDH2 Gly487Lys, TP53 Arg72Pro, ABCG2 Gln141Lys, MGMT Leu84Phe, SOD2 Ala-9Val, and MTHFR Ala222Val). No chimpanzee polymorphism corresponded to human IL1RN VNTR; the ancestral allele was a repeat lost in humans. Dinucleotide repeat polymorphisms of IGF1, IFNG, ESR1, and EGFR were shared by chimpanzees, but the length of repeats tended to be longer in humans than in chimpanzees. This tendency was particularly evident for IGF1. All of the SNPs tested are human-specific nucleotide changes. The ancestral allele 7A was shown to be lost in MMP3-1171 5A/6A. Thus, all of the possible cancer-associated polymorphisms tested have human-specific alleles, and the ancestral allele is lost in three polymorphisms (IL1RN VNTR, UGT1A1 CA repeat, and MMP3-1171 5A/6A), suggesting a possible involvement of human-specific alleles in cancer susceptibility.
Yuichi Maruta; Naoko Okayama; Mikako Hiura; Yutaka Suehiro; Hirohisa Hirai; Yuji Hinoda
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  180     ISSN:  0165-4608     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-10     Completed Date:  2008-02-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  24-9     Citation Subset:  IM    
Department of Laboratory Medicine, Yamaguchi University Graduate School of Medicine, 1-1-1, Minami-Kogushi, Ube, Yamaguchi 755-8505 Japan.
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MeSH Terms
Genetic Predisposition to Disease
Minisatellite Repeats
Neoplasms / genetics*
Pan troglodytes / genetics*
Polymorphism, Genetic*
Polymorphism, Single Nucleotide
Tandem Repeat Sequences

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