Human PON2 gene at 7q21.3:: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence

被引:143
作者
Mochizuki, H
Scherer, SW
Xi, T
Nickle, DC
Majer, M
Huizenga, JJ
Tsui, LC
Prochazka, M
机构
[1] NIDDKD, Clin Diabet & Nutr Sect, Phoenix Epidemiol & Clin Res Branch, Phoenix, AZ 85016 USA
[2] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada
[3] NIDDKD, Clin Diabet & Nutr Sect, Phoenix Epidemiol & Clin Res Branch, Phoenix, AZ 85016 USA
关键词
paraoxonase-2; exon-intron structure; alternative splicing; amino acid variants;
D O I
10.1016/S0378-1119(98)00193-0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report the cloning and characterization of human PON2, a paraoxonase-related gene-2 that is physically linked with PON1 and PON3 on 7q21.3. PON2 is ubiquitously expressed and we identified several mRNA forms produced by alternative splicing, or by the use of a second transcription start site. We also describe two polymorphisms in the coding sequences that, in the protein deduced from the longest open reading frame, predict an alanine-to-glycine substitution at residue 147 and a serine-to-cysteine substitution at residue 310. (C) 1998 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:149 / 157
页数:9
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