학술논문
Analysis of the DNA sequence and duplication history of human chromosome 15.
Document Type
Letter
Author
Zody, Michael C.; Garber, Manuel; Sharpe, Ted; Young, Sarah K.; Rowen, Lee; O'Neill, Keith; Whittaker, Charles A.; Kamal, Michael; Chang, Jean L.; Cuomo, Christina A.; Dewar, Ken; FitzGerald, Michael G.; Kodira, Chinnappa D.; Madan, Anup; Shizhen Qin; Xiaoping Yang; Abbasi, Nissa; Abouelleil, Amr; Arachchi, Harindra M.; Baradarani, Lida
Source
Subject
*HUMAN chromosomes
*NUCLEOTIDE sequence
*HUMAN chromosome 15 abnormalities
*PRADER-Willi syndrome
*GENETIC recombination
*GENETIC polymorphisms
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Language
ISSN
0028-0836
Abstract
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. [ABSTRACT FROM AUTHOR]