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

Authors
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
Citation
At. Rovio et al., Mutations at the mitochondrial DNA polymerase (POLG) locus associated withmale infertility, NAT GENET, 29(3), 2001, pp. 261-262
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
29
Issue
3
Year of publication
2001
Pages
261 - 262
Database
ISI
SICI code
1061-4036(200111)29:3<261:MATMDP>2.0.ZU;2-4
Abstract
Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutami ne tract encoded by a CAG microsatellite repeat(1,2). Analysis of POLG geno types 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.