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

Anja T. Rovio; David R. Marchington; Susanne Donat; Hans Christian Schuppe; Josef Abel; Ellen Fritsche; David J. Elliott; Pekka Laippala; Arja L. Ahola; David McNay; Robert F. Harrison; Barbara Hughes; Thomas Barrett; David M.D. Bailey; Denise Mehmet; Anne M. Jequier; Tim B. Hargreave; Shu Huei Kao; James M. Cummins; David E. Barton; Howard J. Cooke; Yau Huei Wei; Lars Wichmann; Joanna Poulton; Howard T. Jacobs

doi:10.1038/ng759

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

Anja T. Rovio, David R. Marchington, Susanne Donat, Hans Christian Schuppe, Josef Abel, Ellen Fritsche, David J. Elliott, Pekka Laippala, Arja L. Ahola, David McNay, Robert F. Harrison, Barbara Hughes, Thomas Barrett, David M.D. Bailey, Denise Mehmet, Anne M. Jequier, Tim B. Hargreave, Shu Huei Kao, James M. Cummins, David E. BartonHoward J. Cooke, Yau Huei Wei, Lars Wichmann, Joanna Poulton, Howard T. Jacobs^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

166 Scopus citations

Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat^1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

Original language	English
Pages (from-to)	261-262
Number of pages	2
Journal	Nature Genetics
Volume	29
Issue number	3
DOIs	https://doi.org/10.1038/ng759
State	Published - 2001
Externally published	Yes

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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. D., Mehmet, D., Jequier, A. M., Hargreave, T. B., Kao, S. H., Cummins, J. M., ... Jacobs, H. T. (2001). Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics, 29(3), 261-262. https://doi.org/10.1038/ng759

@article{b419dbf23e464a1f8da6c8ee01996c76,

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 repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.",

author = "Rovio, {Anja T.} and Marchington, {David R.} and Susanne Donat and Schuppe, {Hans Christian} and Josef Abel and Ellen Fritsche and Elliott, {David J.} and Pekka Laippala and Ahola, {Arja L.} and David McNay and Harrison, {Robert F.} and Barbara Hughes and Thomas Barrett and Bailey, {David M.D.} and Denise Mehmet and Jequier, {Anne M.} and Hargreave, {Tim B.} and Kao, {Shu Huei} and Cummins, {James M.} and Barton, {David E.} and Cooke, {Howard J.} and Wei, {Yau Huei} and Lars Wichmann and Joanna Poulton and Jacobs, {Howard T.}",

year = "2001",

doi = "10.1038/ng759",

language = "英语",

volume = "29",

pages = "261--262",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "3",

}

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, DMD, 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. 261-262. https://doi.org/10.1038/ng759

TY - JOUR

T1 - Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

AU - Rovio, Anja T.

AU - Marchington, David R.

AU - Donat, Susanne

AU - Schuppe, Hans Christian

AU - Abel, Josef

AU - Fritsche, Ellen

AU - Elliott, David J.

AU - Laippala, Pekka

AU - Ahola, Arja L.

AU - McNay, David

AU - Harrison, Robert F.

AU - Hughes, Barbara

AU - Barrett, Thomas

AU - Bailey, David M.D.

AU - Mehmet, Denise

AU - Jequier, Anne M.

AU - Hargreave, Tim B.

AU - Kao, Shu Huei

AU - Cummins, James M.

AU - Barton, David E.

AU - Cooke, Howard J.

AU - Wei, Yau Huei

AU - Wichmann, Lars

AU - Poulton, Joanna

AU - Jacobs, Howard T.

PY - 2001

Y1 - 2001

N2 - Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

AB - Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

UR - http://www.scopus.com/inward/record.url?scp=0035185070&partnerID=8YFLogxK

U2 - 10.1038/ng759

DO - 10.1038/ng759

M3 - 文章

C2 - 11687794

AN - SCOPUS:0035185070

SN - 1061-4036

VL - 29

SP - 261

EP - 262

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

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