A prevalent POLG CAG microsatellite length allele in humans and African great apes
| Autor: | D.R. Marchington, Anja T. Rovio, Hans-Christian Schuppe, Denise Mehmet, Yau-Huei Wei, Oliver A. Ryder, Heui Soo Kim, Heidi Davis, Antoine Blancher, Jaume Bertranpetit, Nel Otting, Josef Abel, Aida M. Andrés, Joanna Poulton, Arja L. Ahola, Susan M.G. Hoffman, Leona G. Chemnick, Osamu Takenaka, Timothy B. Hargreave, Ronald E. Bontrop, Howard J. Cooke, Anne M. Jequier, Howard T. Jacobs, Shu Huei Kao, Lars Wichmann, David J. Elliott, Ellen Fritsche, James M. Cummins |
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| Rok vydání: | 2004 |
| Předmět: |
Genetics
Mitochondrial DNA Nuclear gene Base Sequence Sequence analysis Molecular Sequence Data Hominidae Locus (genetics) DNA-Directed DNA Polymerase Haplorhini Biology DNA Polymerase gamma Trinucleotide Repeats biology.animal Animals Humans Coding region Microsatellite Common chimpanzee Amino Acid Sequence Allele |
| Zdroj: | Mammalian Genome. 15:492-502 |
| ISSN: | 1432-1777 0938-8990 |
| DOI: | 10.1007/s00335-004-3049-x |
| Popis: | The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase gamma ( 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 of80% 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. |
| Databáze: | OpenAIRE |
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