The DNA sequence of human chromosome 7.

TitleThe DNA sequence of human chromosome 7.
Publication TypeJournal Article
Year of Publication2003
AuthorsHillier, LDW, Fulton, RS, Fulton, LA, Graves, TA, Pepin, KH, Wagner-McPherson, C, Layman, D, Maas, J, Jaeger, S, Walker, R, Wylie, K, Sekhon, M, Becker, MC, O'Laughlin, MD, Schaller, ME, Fewell, GA, Delehaunty, KD, Miner, TL, Nash, WE, Cordes, M, Du, H, Sun, H, Edwards, J, Bradshaw-Cordum, H, Ali, J, Andrews, S, Isak, A, Vanbrunt, A, Nguyen, C, Du, F, Lamar, B, Courtney, L, Kalicki, J, Ozersky, P, Bielicki, L, Scott, K, Holmes, A, Harkins, R, Harris, A, Strong, CMadsen, Hou, S, Tomlinson, C, Dauphin-Kohlberg, S, Kozlowicz-Reilly, A, Leonard, S, Rohlfing, T, Rock, SM, Tin-Wollam, A-M, Abbott, A, Minx, P, Maupin, R, Strowmatt, C, Latreille, P, Miller, N, Johnson, D, Murray, J, Woessner, JP, Wendl, MC, Yang, S-P, Schultz, BR, Wallis, JW, Spieth, J, Bieri, TA, Nelson, JO, Berkowicz, N, Wohldmann, PE, Cook, LL, Hickenbotham, MT, Eldred, J, Williams, D, Bedell, JA, Mardis, ER, Clifton, SW, Chissoe, SL, Marra, MA, Raymond, C, Haugen, E, Gillett, W, Zhou, Y, James, R, Phelps, K, Iadanoto, S, Bubb, K, Simms, E, Levy, R, Clendenning, J, Kaul, R, W Kent, J, Furey, TS, Baertsch, RA, Brent, MR, Keibler, E, Flicek, P, Bork, P, Suyama, M, Bailey, JA, Portnoy, ME, Torrents, D, Chinwalla, AT, Gish, WR, Eddy, SR, McPherson, JD, Olson, MV, Eichler, EE, Green, ED, Waterston, RH, Wilson, RK
JournalNature
Volume424
Issue6945
Pagination157-64
Date Published2003 Jul 10
ISSN1476-4687
KeywordsAnimals, Base Sequence, Chromosomes, Human, Pair 7, Gene Duplication, Humans, Mice, Molecular Sequence Data, Physical Chromosome Mapping, Proteins, Pseudogenes, RNA, Untranslated, Sequence Analysis, DNA, Species Specificity, Williams Syndrome
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.

DOI10.1038/nature01782
Alternate JournalNature
PubMed ID12853948

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