title: Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.
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.
authors.affiliation: Ancobio Ltd, Glasgow, Scotland.
authors.forename: A T
authors.initials: AT
authors.lastname: Rovio
authors.forename: D R
authors.initials: DR
authors.lastname: Marchington
authors.forename: S
authors.initials: S
authors.lastname: Donat
authors.forename: H C
authors.initials: HC
authors.lastname: Schuppe
authors.forename: J
authors.initials: J
authors.lastname: Abel
authors.forename: E
authors.initials: E
authors.lastname: Fritsche
authors.forename: D J
authors.initials: DJ
authors.lastname: Elliott
authors.forename: P
authors.initials: P
authors.lastname: Laippala
authors.forename: A L
authors.initials: AL
authors.lastname: Ahola
authors.forename: D
authors.initials: D
authors.lastname: McNay
authors.forename: R F
authors.initials: RF
authors.lastname: Harrison
authors.forename: B
authors.initials: B
authors.lastname: Hughes
authors.forename: T
authors.initials: T
authors.lastname: Barrett
authors.forename: D M
authors.initials: DM
authors.lastname: Bailey
authors.forename: D
authors.initials: D
authors.lastname: Mehmet
authors.forename: A M
authors.initials: AM
authors.lastname: Jequier
authors.forename: T B
authors.initials: TB
authors.lastname: Hargreave
authors.forename: S H
authors.initials: SH
authors.lastname: Kao
authors.forename: J M
authors.initials: JM
authors.lastname: Cummins
authors.forename: D E
authors.initials: DE
authors.lastname: Barton
authors.forename: H J
authors.initials: HJ
authors.lastname: Cooke
authors.forename: Y H
authors.initials: YH
authors.lastname: Wei
authors.forename: L
authors.initials: L
authors.lastname: Wichmann
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: H T
authors.initials: HT
authors.lastname: Jacobs
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000737:chemistry / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010455:Peptides / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D013094:Spermatozoa / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D010455:Peptides; C097188:polyglutamine; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human