Natural selection on protein-coding genes in the human genome

作者: Carlos D Bustamante , Adi Fledel-Alon , Scott Williamson , Rasmus Nielsen , Melissa Todd Hubisz

DOI: 10.1038/NATURE04240

关键词:

摘要: Comparisons of DNA polymorphism within species to divergence between enables the discovery molecular adaptation in evolutionarily constrained genes as well differentiation weak from strong purifying selection. The extent which negative and positive darwinian selection have driven evolution different varies greatly, with some species, such Drosophila melanogaster, showing evidence pervasive selection, others, selfing weed Arabidopsis thaliana, an excess deleterious variation local populations. Here we contrast patterns coding sequence identified by direct sequencing 39 humans for over 11,000 chimpanzees, find that natural has shaped recent our species. Our analysis discovered 304 (9.0%) out 3,377 potentially informative loci rapid amino acid evolution. Furthermore, 813 (13.5%) 6,033 show a paucity differences indicating and/or balancing operating on mutations at these loci. We distribution negatively positively selected greatly among biological processes functions, classes, transcription factors, rapidly evolving genes, whereas cytoskeletal proteins, extensive yet little chimpanzees.

参考文章(26)
Adam Eyre-Walker, Peter D. Keightley, High genomic deleterious mutation rates in hominids Nature. ,vol. 397, pp. 344- 347 ,(1999) , 10.1038/16915
Michael D. Purugganan, Carlos D. Bustamante, Jiaye Yu, Marianne Barrier, Selection on rapidly evolving proteins in the Arabidopsis genome. Genetics. ,vol. 163, pp. 723- 733 ,(2003) , 10.1093/GENETICS/163.2.723
Naoyuki Takahata, Neutral theory of molecular evolution Current Opinion in Genetics & Development. ,vol. 6, pp. 767- 772 ,(1996) , 10.1016/S0959-437X(96)80034-7
T. R. Ioerger, A. G. Clark, T. H. Kao, Polymorphism at the self-incompatibility locus in Solanaceae predates speciation Proceedings of the National Academy of Sciences of the United States of America. ,vol. 87, pp. 9732- 9735 ,(1990) , 10.1073/PNAS.87.24.9732
Stanley A. Sawyer, Rob J. Kulathinal, Carlos D. Bustamante, Daniel L. Hartl, Bayesian Analysis Suggests that Most Amino Acid Replacements in Drosophila Are Driven by Positive Selection Journal of Molecular Evolution. ,vol. 57, ,(2003) , 10.1007/S00239-003-0022-3
John H. McDonald, Martin Kreitman, Adaptive protein evolution at the Adh locus in Drosophila Nature. ,vol. 351, pp. 652- 654 ,(1991) , 10.1038/351652A0
Rasmus Nielsen, Carlos Bustamante, Andrew G Clark, Stephen Glanowski, Timothy B Sackton, Melissa J Hubisz, Adi Fledel-Alon, David M Tanenbaum, Daniel Civello, Thomas J White, John J. Sninsky, Mark D Adams, Michele Cargill, A Scan for Positively Selected Genes in the Genomes of Humans and Chimpanzees PLOS Biology. ,vol. 3, pp. 976- 985 ,(2005) , 10.1371/JOURNAL.PBIO.0030170
Magnus Nordborg, Tina T Hu, Yoko Ishino, Jinal Jhaveri, Christopher Toomajian, Honggang Zheng, Erica Bakker, Peter Calabrese, Jean Gladstone, Rana Goyal, Mattias Jakobsson, Sung Kim, Yuri Morozov, Badri Padhukasahasram, Vincent Plagnol, Noah A Rosenberg, Chitiksha Shah, Jeffrey D Wall, Jue Wang, Keyan Zhao, Theodore Kalbfleisch, Vincent Schulz, Martin Kreitman, Joy Bergelson, None, The pattern of polymorphism in Arabidopsis thaliana. PLOS Biology. ,vol. 3, pp. 1289- 1299 ,(2005) , 10.1371/JOURNAL.PBIO.0030196
Justin C. Fay, Gerald J. Wyckoff, Chung-I Wu, Testing the neutral theory of molecular evolution with genomic data from Drosophila Nature. ,vol. 415, pp. 1024- 1026 ,(2002) , 10.1038/4151024A