A prevalent POLG CAG microsatellite length allele in humans and African great apes

Anja T. Rovio, Josef Abel, Arja L. Ahola, Aida M. Andres, Jaume Bertranpetit, Antoine Blancher, Ronald E. Bontrop, Leona G. Chemnick, Howard J. Cooke, James M. Cummins, Heidi A. Davis, David J. Elliott, Ellen Fritsche, Timothy B. Hargreave, Susan M G Hoffman, Anne M. Jequier, Shu Huei Kao, Heui Soo Kim, David R. Marchington, Denise MehmetNel Otting, Joanna Poulton, Oliver A. Ryder, Hans Christian Schuppe, Osamu Takenaka, Yau Huei Wei, Lars Wichmann, Howard T. Jacobs

研究成果: 雜誌貢獻文章

20 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
頁(從 - 到)492-502
頁數11
期刊Mammalian Genome
15
發行號6
DOIs
出版狀態已發佈 - 六月 2004
對外發佈Yes

ASJC Scopus subject areas

  • Genetics

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    Rovio, A. T., Abel, J., Ahola, A. L., Andres, A. M., Bertranpetit, J., Blancher, A., Bontrop, R. E., Chemnick, L. G., Cooke, H. J., Cummins, J. M., Davis, H. A., Elliott, D. J., Fritsche, E., Hargreave, T. B., Hoffman, S. M. G., Jequier, A. M., Kao, S. H., Kim, H. S., Marchington, D. R., ... Jacobs, H. T. (2004). A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mammalian Genome, 15(6), 492-502. https://doi.org/10.1007/s00335-004-3049-x