1. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
- Author
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Barbara Hughes, Ellen Fritsche, Lars Wichmann, Robert F. Harrison, James M. Cummins, Joanna Poulton, Howard J. Cooke, Yau-Huei Wei, Arja L. Ahola, Denise Mehmet, Pekka Laippala, David J. Elliott, David McNay, Anne M. Jequier, Tim B. Hargreave, Hans-Christian Schuppe, Josef Abel, Susanne Donat, David Bailey, Thomas Barrett, D.R. Marchington, Howard T. Jacobs, Anja T. Rovio, Shu Huei Kao, and David E. Barton
- Subjects
Male ,Mitochondrial DNA ,Locus (genetics) ,DNA-Directed DNA Polymerase ,DNA, Mitochondrial ,Human mitochondrial genetics ,White People ,Male infertility ,Asian People ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,Alleles ,Infertility, Male ,Polymerase ,Azoospermia ,biology ,Homozygote ,Polyglutamine tract ,medicine.disease ,Spermatozoa ,Molecular biology ,DNA Polymerase gamma ,Phenotype ,Mutation ,biology.protein ,Peptides ,Microsatellite Repeats - Abstract
Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat. 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.
- Published
- 2001
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