Nature 2006-03-23

Human chromosome 11 DNA sequence and analysis including novel gene identification.

Todd D Taylor, Hideki Noguchi, Yasushi Totoki, Atsushi Toyoda, Yoko Kuroki, Ken Dewar, Christine Lloyd, Takehiko Itoh, Tadayuki Takeda, Dae-Won Kim, Xinwei She, Karen F Barlow, Toby Bloom, Elspeth Bruford, Jean L Chang, Christina A Cuomo, Evan Eichler, Michael G FitzGerald, David B Jaffe, Kurt LaButti, Robert Nicol, Hong-Seog Park, Christopher Seaman, Carrie Sougnez, Xiaoping Yang, Andrew R Zimmer, Michael C Zody, Bruce W Birren, Chad Nusbaum, Asao Fujiyama, Masahira Hattori, Jane Rogers, Eric S Lander, Yoshiyuki Sakaki

文献索引：Nature 440(7083) , 497-500, (2006)

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摘要

Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena.