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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.
Author(s): Rovio AT, Abel J, Ahola AL, Andres AM, Bertranpetit J, Blancher A, Bontrop RE, Chemnick LG, Cooke HJ, Cummins JM, Davis HA, Elliott DJ, Fritsche E, Hargreave TB, Hoffman SMG, Jequier AM, Kao S-H, Kim H-S, Marchington DR, Mehmet D, Otting N, Poulton J, Ryder OA, Schuppe H-C, Takenaka O, Wei Y-H, Wichmann L, Jacobs HT
Publication type: Article
Publication status: Published
Journal: Mammalian Genome
Year: 2004
Volume: 15
Issue: 6
Pages: 492-502
Print publication date: 01/06/2004
ISSN (print): 0938-8990
ISSN (electronic): 1432-1777
Publisher: Springer
URL: http://dx.doi.org/10.1007/s00335-004-3049-x
DOI: 10.1007/s00335-004-3049-x
PubMed id: 15181541
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