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

A T Rovio, D R Marchington, S Donat, H C Schuppe, J Abel, E Fritsche, D J Elliott, P Laippala, A L Ahola, D McNay, R F Harrison, B Hughes, T Barrett, D M Bailey, D Mehmet, A M Jequier, T B Hargreave, S H Kao, J M Cummins, D E BartonH J Cooke, Y H Wei, L Wichmann, J Poulton, H T Jacobs

Research output: Contribution to journalArticle

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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.
Original languageEnglish
Pages (from-to)261-2
Number of pages2
JournalNature Genetics
Volume29
Issue number3
DOIs
Publication statusPublished - 2001

Fingerprint

Azoospermia
Male Infertility
DNA-Directed DNA Polymerase
Mitochondrial DNA
Microsatellite Repeats
Spermatozoa
Alleles
Genotype
Mutation
Population
polyglutamine

Keywords

  • Alleles
  • Asian Continental Ancestry Group
  • DNA, Mitochondrial
  • DNA-Directed DNA Polymerase
  • European Continental Ancestry Group
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Infertility, Male
  • Male
  • Microsatellite Repeats
  • Mutation
  • Peptides
  • Phenotype
  • Spermatozoa

Cite this

Rovio, A. T., Marchington, D. R., Donat, S., Schuppe, H. C., Abel, J., Fritsche, E., ... Jacobs, H. T. (2001). Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics, 29(3), 261-2. https://doi.org/10.1038/ng759

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. / Rovio, A T; Marchington, D R; Donat, S; Schuppe, H C; Abel, J; Fritsche, E; Elliott, D J; Laippala, P; Ahola, A L; McNay, D; Harrison, R F; Hughes, B; Barrett, T; Bailey, D M; Mehmet, D; Jequier, A M; Hargreave, T B; Kao, S H; Cummins, J M; Barton, D E; Cooke, H J; Wei, Y H; Wichmann, L; Poulton, J; Jacobs, H T.

In: Nature Genetics, Vol. 29, No. 3, 2001, p. 261-2.

Research output: Contribution to journalArticle

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 2001, 'Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility', Nature Genetics, vol. 29, no. 3, pp. 261-2. https://doi.org/10.1038/ng759
Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics. 2001;29(3):261-2. https://doi.org/10.1038/ng759
Rovio, A T ; Marchington, D R ; Donat, S ; Schuppe, H C ; Abel, J ; Fritsche, E ; Elliott, D J ; Laippala, P ; Ahola, A L ; McNay, D ; Harrison, R F ; Hughes, B ; Barrett, T ; Bailey, D M ; Mehmet, D ; Jequier, A M ; Hargreave, T B ; Kao, S H ; Cummins, J M ; Barton, D E ; Cooke, H J ; Wei, Y H ; Wichmann, L ; Poulton, J ; Jacobs, H T. / Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. In: Nature Genetics. 2001 ; Vol. 29, No. 3. pp. 261-2.
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AU - Rovio, A T

AU - Marchington, D R

AU - Donat, S

AU - Schuppe, H C

AU - Abel, J

AU - Fritsche, E

AU - Elliott, D J

AU - Laippala, P

AU - Ahola, A L

AU - McNay, D

AU - Harrison, R F

AU - Hughes, B

AU - Barrett, T

AU - Bailey, D M

AU - Mehmet, D

AU - Jequier, A M

AU - Hargreave, T B

AU - Kao, S H

AU - Cummins, J M

AU - Barton, D E

AU - Cooke, H J

AU - Wei, Y H

AU - Wichmann, L

AU - Poulton, J

AU - Jacobs, H T

PY - 2001

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AB - 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.

KW - Alleles

KW - Asian Continental Ancestry Group

KW - DNA, Mitochondrial

KW - DNA-Directed DNA Polymerase

KW - European Continental Ancestry Group

KW - Genetic Predisposition to Disease

KW - Homozygote

KW - Humans

KW - Infertility, Male

KW - Male

KW - Microsatellite Repeats

KW - Mutation

KW - Peptides

KW - Phenotype

KW - Spermatozoa

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