人类7号染色体的DNA序列。

The DNA sequence of human chromosome 7.

作者信息

Hillier Ladeana W, Fulton Robert S, Fulton Lucinda A, Graves Tina A, Pepin Kymberlie H, Wagner-McPherson Caryn, Layman Dan, Maas Jason, Jaeger Sara, Walker Rebecca, Wylie Kristine, Sekhon Mandeep, Becker Michael C, O'Laughlin Michelle D, Schaller Mark E, Fewell Ginger A, Delehaunty Kimberly D, Miner Tracie L, Nash William E, Cordes Matt, Du Hui, Sun Hui, Edwards Jennifer, Bradshaw-Cordum Holland, Ali Johar, Andrews Stephanie, Isak Amber, Vanbrunt Andrew, Nguyen Christine, Du Feiyu, Lamar Betty, Courtney Laura, Kalicki Joelle, Ozersky Philip, Bielicki Lauren, Scott Kelsi, Holmes Andrea, Harkins Richard, Harris Anthony, Strong Cynthia Madsen, Hou Shunfang, Tomlinson Chad, Dauphin-Kohlberg Sara, Kozlowicz-Reilly Amy, Leonard Shawn, Rohlfing Theresa, Rock Susan M, Tin-Wollam Aye-Mon, Abbott Amanda, Minx Patrick, Maupin Rachel, Strowmatt Catrina, Latreille Phil, Miller Nancy, Johnson Doug, Murray Jennifer, Woessner Jeffrey P, Wendl Michael C, Yang Shiaw-Pyng, Schultz Brian R, Wallis John W, Spieth John, Bieri Tamberlyn A, Nelson Joanne O, Berkowicz Nicolas, Wohldmann Patricia E, Cook Lisa L, Hickenbotham Matthew T, Eldred James, Williams Donald, Bedell Joseph A, Mardis Elaine R, Clifton Sandra W, Chissoe Stephanie L, Marra Marco A, Raymond Christopher, Haugen Eric, Gillett Will, Zhou Yang, James Rose, Phelps Karen, Iadanoto Shawn, Bubb Kerry, Simms Elizabeth, Levy Ruth, Clendenning James, Kaul Rajinder, Kent W James, Furey Terrence S, Baertsch Robert A, Brent Michael R, Keibler Evan, Flicek Paul, Bork Peer, Suyama Mikita, Bailey Jeffrey A, Portnoy Matthew E, Torrents David, Chinwalla Asif T, Gish Warren R, Eddy Sean R, McPherson John D, Olson Maynard V, Eichler Evan E, Green Eric D, Waterston Robert H, Wilson Richard K

机构信息

Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.

出版信息

Nature. 2003 Jul 10;424(6945):157-64. doi: 10.1038/nature01782.

DOI:10.1038/nature01782

PMID:12853948

Abstract

Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

摘要

人类7号染色体在人类遗传学领域一直备受关注，主要与寻找囊性纤维化基因以及与各种癌症相关的频繁细胞遗传学变化有关。在此，我们展示了超过1.53亿个碱基对，占7号染色体常染色质序列的99.4%，这是迄今为止完成的第一条中着丝粒染色体。该序列与先前建立的物理图谱和遗传图谱高度一致，并且呈现出异常数量的片段重复序列（8.2%），两条臂之间存在明显差异。我们的初步分析确定了1150个蛋白质编码基因，其中605个已通过互补DNA序列得到证实，另外还有941个假基因。在经转录序列证实的基因中，有些因破坏阅读框的突变而具有多态性。