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

TitleThe DNA sequence, annotation and analysis of human chromosome 3.
Publication TypeJournal Article
Year of Publication2006
AuthorsMuzny, DM, Scherer, SE, Kaul, R, Wang, J, Yu, J, Sudbrak, R, Buhay, CJ, Chen, R, Cree, A, Ding, Y, Dugan-Rocha, S, Gill, R, Gunaratne, P, R Harris, A, Hawes, AC, Hernandez, J, Hodgson, AV, Hume, J, Jackson, A, Khan, ZMohid, Kovar-Smith, C, Lewis, LR, Lozado, RJ, Metzker, ML, Milosavljevic, A, Miner, GR, Morgan, MB, Nazareth, LV, Scott, G, Sodergren, E, Song, X-Z, Steffen, D, Wei, S, Wheeler, DA, Wright, MW, Worley, KC, Yuan, Y, Zhang, Z, Adams, CQ, M Ansari-Lari, A, Ayele, M, Brown, MJ, Chen, G, Chen, Z, Clendenning, J, Clerc-Blankenburg, KP, Chen, R, Chen, Z, Davis, C, Delgado, O, Dinh, HH, Dong, W, Draper, H, Ernst, S, Fu, G, Gonzalez-Garay, ML, Garcia, DK, Gillett, W, Gu, J, Hao, B, Haugen, E, Havlak, P, He, X, Hennig, S, Hu, S, Huang, W, Jackson, LR, Jacob, LS, Kelly, SH, Kube, M, Levy, R, Li, Z, Liu, B, Liu, J, Liu, W, Lu, J, Maheshwari, M, Nguyen, B-V, Okwuonu, GO, Palmeiri, A, Pasternak, S, Perez, LM, Phelps, KA, Plopper, FJH, Qiang, B, Raymond, C, Rodriguez, R, Saenphimmachak, C, Santibanez, J, Shen, H, Shen, Y, Subramanian, S, Tabor, PE, Verduzco, D, Waldron, L, Wang, J, Wang, J, Wang, Q, Williams, GA, Wong, GK-S, Yao, Z, Zhang, J, Zhang, X, Zhao, G, Zhou, J, Zhou, Y, Nelson, D, Lehrach, H, Reinhardt, R, Naylor, SL, Yang, H, Olson, M, Weinstock, G, Gibbs, RA
JournalNature
Volume440
Issue7088
Pagination1194-8
Date Published2006 Apr 27
ISSN1476-4687
KeywordsAnimals, Base Sequence, Chromosome Breakage, Chromosome Inversion, Chromosomes, Human, Pair 3, Contig Mapping, CpG Islands, DNA, Complementary, Evolution, Molecular, Expressed Sequence Tags, Human Genome Project, Humans, Macaca mulatta, Molecular Sequence Data, Pan troglodytes, Sequence Analysis, DNA, Synteny
Abstract

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.

DOI10.1038/nature04728
Alternate JournalNature
PubMed ID16641997
Grant ListG0000107 / / Medical Research Council / United Kingdom
U54 HG003273 / HG / NHGRI NIH HHS / United States