|Publication Type||Journal Article|
|Year of Publication||2006|
|Authors||Zody, 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 Published||2006 Mar 30|
|Keywords||Animals, 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.
|Grant List||G0000107 / / Medical Research Council / United Kingdom|