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Nature DOI:10.1038/nature04601

Analysis of the DNA sequence and duplication history of human chromosome 15.

Publication TypeJournal Article
Year of Publication2006
AuthorsZody, MC, Garber, M, Sharpe, T, Young, SK, Rowen, L, O'Neill, K, Whittaker, CA, Kamal, M, Chang, JL, Cuomo, CA, Dewar, K, FitzGerald, MG, Kodira, CD, Madan, A, Qin, S, Yang, X, Abbasi, N, Abouelleil, A, Arachchi, HM, Baradarani, L, Birditt, B, Bloom, S, Bloom, T, Borowsky, ML, Burke, J, Butler, J, Cook, A, DeArellano, K, DeCaprio, D, Dorris, L, Dors, M, Eichler, EE, Engels, R, Fahey, J, Fleetwood, P, Friedman, C, Gearin, G, Hall, JL, Hensley, G, Johnson, E, Jones, C, Kamat, A, Kaur, A, Locke, DP, Madan, A, Munson, G, Jaffe, DB, Lui, A, Macdonald, P, Mauceli, E, Naylor, JW, Nesbitt, R, Nicol, R, O'Leary, SB, Ratcliffe, A, Rounsley, S, She, X, Sneddon, KMB, Stewart, S, Sougnez, C, Stone, SM, Topham, K, Vincent, D, Wang, S, Zimmer, AR, Birren, BW, Hood, L, Lander, ES, Nusbaum, C
Date Published2006 Mar 30
KeywordsAnimals, Chromosomes, Human, Pair 15, Conserved Sequence, Evolution, Molecular, Gene Duplication, Genes, Genome, Human, Haplotypes, Humans, Macaca mulatta, Molecular Sequence Data, Multigene Family, Phylogeny, Polymorphism, Genetic, Sequence Analysis, DNA, Synteny

Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.


Alternate JournalNature
PubMed ID16572171
Grant ListG0000107 / / Medical Research Council / United Kingdom