Nature 2006-04-27

The DNA sequence, annotation and analysis of human chromosome 3.

Donna M Muzny, Steven E Scherer, Rajinder Kaul, Jing Wang, Jun Yu, Ralf Sudbrak, Christian J Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R Alan Harris, Alicia C Hawes, Judith Hernandez, Anne V Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R Lewis, Ryan J Lozado, Michael L Metzker, Aleksandar Milosavljevic, George R Miner, Margaret B Morgan, Lynne V Nazareth, Graham Scott, Erica Sodergren, Xing-Zhi Song, David Steffen, Sharon Wei, David A Wheeler, Mathew W Wright, Kim C Worley, Ye Yuan, Zhengdong Zhang, Charles Q Adams, M Ali Ansari-Lari, Mulu Ayele, Mary J Brown, Guan Chen, Zhijian Chen, James Clendenning, Kerstin P Clerc-Blankenburg, Runsheng Chen, Zhu Chen, Clay Davis, Oliver Delgado, Huyen H Dinh, Wei Dong, Heather Draper, Stephen Ernst, Gang Fu, Manuel L Gonzalez-Garay, Dawn K Garcia, Will Gillett, Jun Gu, Bailin Hao, Eric Haugen, Paul Havlak, Xin He, Steffen Hennig, Songnian Hu, Wei Huang, Laronda R Jackson, Leni S Jacob, Susan H Kelly, Michael Kube, Ruth Levy, Zhangwan Li, Bin Liu, Jing Liu, Wen Liu, Jing Lu, Manjula Maheshwari, Bao-Viet Nguyen, Geoffrey O Okwuonu, Anthony Palmeiri, Shiran Pasternak, Lesette M Perez, Karen A Phelps, Farah J H Plopper, Boqin Qiang, Christopher Raymond, Ruben Rodriguez, Channakhone Saenphimmachak, Jireh Santibanez, Hua Shen, Yan Shen, Sandhya Subramanian, Paul E Tabor, Daniel Verduzco, Lenee Waldron, Jian Wang, Jun Wang, Qiaoyan Wang, Gabrielle A Williams, Gane K-S Wong, Zhijian Yao, JingKun Zhang, Xiuqing Zhang, Guoping Zhao, Jianling Zhou, Yang Zhou, David Nelson, Hans Lehrach, Richard Reinhardt, Susan L Naylor, Huanming Yang, Maynard Olson, George Weinstock, Richard A Gibbs

文献索引：Nature 440(7088) , 1194-8, (2006)

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摘要

After the completion of a draft human genome sequence, the International Human Genome Sequencing Consortium has proceeded to finish and annotate each of the 24 chromosomes comprising the human genome. Here we describe the sequencing and analysis of human chromosome 3, one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B. Using genomic sequence from chimpanzee and rhesus macaque, we were able to characterize the breakpoints defining a large pericentric inversion that occurred some time after the split of Homininae from Ponginae, and propose an evolutionary history of the inversion.