Journal article
A prevalent POLG CAG microsatellite length allele in humans and African great apes
Mammalian Genome, Vol.15(6), pp.492-502
2004
Abstract
The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase γ (POLG) contains within its coding region a CAG microsatellite encoding a polyglutamine repeat. Previous studies demonstrated an association between length variation at this repeat and male infertility, suggesting a mechanism whereby the prevalent (CAG) 10 allele, which occurs at a frequency of >80% in different populations, could be maintained by selection. Sequence analysis of the POLG CAG microsatellite region of more than 1000 human chromosomes reveals that virtually all allelic variation at the locus is accounted for by length variation of the CAG repeat. Analysis of POLG from African great apes shows that a prevalent length allele is present in each species, although its exact length is species-specific. In common chimpanzee (Pan troglodytes) a number of different sequence variants contribute to the prevalent length allele, strongly supporting the idea that the length of the POLG microsatellite region, rather than its exact nucleotide or amino acid sequence, is what is maintained. Analysis of POLG in other primates indicates that the repeat has expanded from a shorter, glutamine-rich sequence, present in the common ancestor of Old and New World monkeys.
Details
- Title
- A prevalent POLG CAG microsatellite length allele in humans and African great apes
- Authors/Creators
- A.T. Rovio (Author/Creator) - University of TampereJ. Abel (Author/Creator) - Heinrich Heine University DüsseldorfJ.M. Cummins (Author/Creator) - Murdoch UniversityS.M.G. Hoffman (Author/Creator) - Miami UniversityJ. Poulton (Author/Creator) - University of OxfordO.A. Ryder (Author/Creator) - Zoological Society of San DiegoH-C Schuppe (Author/Creator) - Justus-Liebig-Universität GießenO. Takenaka (Author/Creator) - Primate Research InstituteY-H Wei (Author/Creator) - National Yang Ming UniversityA.L. Ahola (Author/Creator) - University of TampereA.M. Andres (Author/Creator) - Universitat Pompeu FabraJ. Bertranpetit (Author/Creator) - Universitat Pompeu FabraH.T. Jacobs (Author/Creator) - University of GlasgowR.E. Bontrop (Author/Creator) - Biomedical Primate Research CentreE. Fritsche (Author/Creator) - Heinrich Heine University DüsseldorfT.B. Hargreave (Author/Creator) - Western General HospitalA.M. Jequier (Author/Creator) - Joonadalup Health Campus, Perth, Western AustraliaS-Hu Kao (Author/Creator)H-S Kim (Author/Creator) - Pusan National UniversityD.R. Marchington (Author/Creator) - University of OxfordH.A. Davis (Author/Creator) - Zoological Society of San DiegoD.J. Elliott (Author/Creator) - Institute of Genetics and CancerH.J. Cooke (Author/Creator) - Institute of Genetics and CancerA. Blancher (Author/Creator) - Université Toulouse III - Paul SabatierL.G. Chemnick (Author/Creator) - Zoological Society of San DiegoL. Wichmann (Author/Creator) - University of TampereD. Mehmet (Author/Creator) - Murdoch UniversityN. Otting (Author/Creator) - Biomedical Primate Research Centre
- Publication Details
- Mammalian Genome, Vol.15(6), pp.492-502
- Publisher
- Springer New York
- Identifiers
- 991005542576207891
- Murdoch Affiliation
- School of Veterinary and Biomedical Sciences
- Language
- English
- Resource Type
- Journal article
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- 1.197 Molecular & Cell Biology - Mitochondria
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