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

Lookup NU author(s): Professor David Elliott


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Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

Publication metadata

Author(s): Elliott DJ; Rovio AT; McNay D; Harrison RF; Hughes B; Barrett T; Bailey DMD; Mehmet D; Jequier AM; Hargreave TB; Kao S-H; Cummins JM; Marchington DR; Barton DE; Cooke HJ; Wei Y-H; Wichmann L; Poulton J; Jacobs HT; Donat S; Schuppe H-C; Abel J; Fritsche E; Laippala P; Ahola AL

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2001

Volume: 29

Issue: 3

Pages: 261-262

Print publication date: 01/01/2001

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/ng759

PubMed id: 11687794


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