Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

被引：145

作者：

Rovio, AT

Marchington, DR

Donat, S

Schuppe, HC

Abe, J

Fritsche, E

Elliott, DJ

Laippala, P

Ahola, AL

McNay, D

Harrison, RF

Hughes, B

Barrett, T

Bailey, DMD

Mehmet, D

Jequier, AM

Hargreave, TB

Kao, SH

Cummins, JM

Barton, DE

Cooke, HJ

Wei, YH

Wichmann, L

Poulton, J

Jacobs, HT ^{[1
]}

机构：

[1] Ancobio Ltd, Glasgow, Lanark, Scotland

[2] Tampere Univ, Inst Med Technol, FIN-33101 Tampere, Finland

[3] Tampere Univ Hosp, Tampere, Finland

[4] Tampere Univ, Dept Anat, FIN-33101 Tampere, Finland

[5] Tampere Univ, Sch Publ Hlth, Biometry Unit, FIN-33101 Tampere, Finland

[6] Univ Oxford, Dept Paediat, Oxford OX1 2JD, England

[7] Univ Dusseldorf, Med Inst Environm Hyg, Dept Expt Toxicol, D-4000 Dusseldorf, Germany

[8] Univ Giessen, Ctr Dermatol & Androl, Giessen, Germany

[9] MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland

[10] Rotunda Hosp, Human Assisted Reprod Ireland, Dublin, Ireland

[11] Univ Coll Dublin, Natl Ctr Med Genet, Dublin 2, Ireland

[12] Murdoch Univ, Div Vet & Biomed Sci, Murdoch, WA 6150, Australia

[13] Joondalup Hlth Campus, Perth, WA, Australia

[14] Western Gen Hosp, Dept Urol, Edinburgh EH4 2XU, Midlothian, Scotland

[15] Natl Yang Ming Univ, Dept Biochem, Taipei 112, Taiwan

[16] Univ Glasgow, Inst Biomed & Life Sci, Glasgow, Lanark, Scotland

来源：

NATURE GENETICS | 2001年 / 29卷 / 03期

基金：

芬兰科学院; 英国惠康基金; 英国医学研究理事会;

关键词：

D O I：

10.1038/ng759

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat(1,2). Analysis of POLG genotypes in different populations identified an association between absence of the common, ten-repeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

引用

页码：261 / 262

页数：2

共 15 条

[1] MOLECULAR-BIOLOGY OF HUMAN MALE-INFERTILITY - LINKS WITH AGING, MITOCHONDRIAL GENETICS, AND OXIDATIVE STRESS [J].