標題: Patterns of segmental duplication in the human genome
作者: Zhang, LQ
Lu, HHS
Chung, WY
Yang, J
Li, WH
統計學研究所
Institute of Statistics
關鍵字: gene density;recombination rate;repetitive;elements;positive selection
公開日期: 1-Jan-2005
摘要: We analyzed the completed human genome for recent segmental duplications (size greater than or equal to 1 kb and sequence similarity greater than or equal to 90%). We found that approximately 4% of the genome is covered by duplications and that the extent of segmental duplication varies from 1% to 14% among the 24 chromosomes. Intrachromosomal duplication is more frequent than interchromosomal duplication in 15 chromosomes. The duplication frequencies in pericentromeric and subtelomeric regions are greater than the genome average by approximately threefold and fourfold. We examined factors that may affect the frequency of duplication in a region. Within individual chromosomes, the duplication frequency shows little correlation with local gene density, repeat density, recombination rate, and GC content, except chromosomes 7 and Y. For the entire genome, the duplication frequency is correlated with each of the above factors. Based on known genes and Ensembl genes, the proportion of duplications containing complete genes is 3.4% and 10.7%, respectively. The proportion of duplications containing genes is higher in intrachromosomal than in interchromosomal duplications, and duplications containing genes have a higher sequence similarity and tend to be longer than duplications containing no genes. Our simulation suggests that many duplications containing genes have been selectively maintained in the genome.
URI: http://dx.doi.org/10.1093/molbev/msh262
http://hdl.handle.net/11536/25344
ISSN: 0737-4038
DOI: 10.1093/molbev/msh262
期刊: MOLECULAR BIOLOGY AND EVOLUTION
Volume: 22
Issue: 1
起始頁: 135
結束頁: 141
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