• PMID: 11687794
• Gene Name: POLG
• Condition: Male infertility, sperm quality defects
• Association: Analysis ofPOLG 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.
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CAG microsatellite repeat
• Other associated phenotypes: Male infertility, sperm quality defects

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

Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT.

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. FAU - Rovio, A T AU - Rovio AT AD - Ancobio Ltd, Glasgow, Scotland. FAU - Marchington, D R AU - Marchington DR FAU - Donat, S AU - Donat S FAU - Schuppe, H C AU - Schuppe HC FAU - Abel, J AU - Abel J FAU - Fritsche, E AU - Fritsche E FAU - Elliott, D J AU - Elliott DJ FAU - Laippala, P AU - Laippala P FAU - Ahola, A L AU - Ahola AL FAU - McNay, D AU - McNay D FAU - Harrison, R F AU - Harrison RF FAU - Hughes, B AU - Hughes B FAU - Barrett, T AU - Barrett T FAU - Bailey, D M AU - Bailey DM FAU - Mehmet, D AU - Mehmet D FAU - Jequier, A M AU - Jequier AM FAU - Hargreave, T B AU - Hargreave TB FAU - Kao, S H AU - Kao SH FAU - Cummins, J M AU - Cummins JM FAU - Barton, D E AU - Barton DE FAU - Cooke, H J AU - Cooke HJ FAU - Wei, Y H AU - Wei YH FAU - Wichmann, L AU - Wichmann L FAU - Poulton, J AU - Poulton J