Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.
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.
Rovio
A T
AT
Ancobio Ltd, Glasgow, Scotland.
Marchington
D R
DR
Donat
S
S
Schuppe
H C
HC
Abel
J
J
Fritsche
E
E
Elliott
D J
DJ
Laippala
P
P
Ahola
A L
AL
McNay
D
D
Harrison
R F
RF
Hughes
B
B
Barrett
T
T
Bailey
D M
DM
Mehmet
D
D
Jequier
A M
AM
Hargreave
T B
TB
Kao
S H
SH
Cummins
J M
JM
Barton
D E
DE
Cooke
H J
HJ
Wei
Y H
YH
Wichmann
L
L
Poulton
J
J
Jacobs
H T
HT
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
D004272:DNA, Mitochondrial; D010455:Peptides; C097188:polyglutamine; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human