作者
Kerstin Lindblad-Toh, Manuel Garber, Or Zuk, Michael F Lin, Brian J Parker, Stefan Washietl, Pouya Kheradpour, Jason Ernst, Gregory Jordan, Evan Mauceli, Lucas D Ward, Craig B Lowe, Alisha K Holloway, Michele Clamp, Sante Gnerre, Jessica Alföldi, Kathryn Beal, Jean Chang, Hiram Clawson, James Cuff, Federica Di Palma, Stephen Fitzgerald, Paul Flicek, Mitchell Guttman, Melissa J Hubisz, David B Jaffe, Irwin Jungreis, W James Kent, Dennis Kostka, Marcia Lara, Andre L Martins, Tim Massingham, Ida Moltke, Brian J Raney, Matthew D Rasmussen, Jim Robinson, Alexander Stark, Albert J Vilella, Jiayu Wen, Xiaohui Xie, Michael C Zody, Kim C Worley, Christie L Kovar, Donna M Muzny, Richard A Gibbs, Human Genome Sequencing Center Sequencing Team, Wesley C Warren, Elaine R Mardis, George M Weinstock, Richard K Wilson, Ewan Birney, Elliott H Margulies, Javier Herrero, Eric D Green, David Haussler, Adam Siepel, Nick Goldman, Katherine S Pollard, Jakob S Pedersen, Eric S Lander, Manolis Kellis
发表日期
2011/10/12
期刊
Nature
卷号
478
期号
7370
页码范围
476-482
出版商
Nature Publishing Group
简介
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding …
引用总数
学术搜索中的文章
K Lindblad-Toh, M Garber, O Zuk, MF Lin, BJ Parker… - Nature, 2011
K Lindblad-Toh, M Garber, O Zuk, MF Lin, BJ Parker… - Nature, 2011