Recent Segmental Duplications in the Human Genome

@article{Bailey2002RecentSD,
  title={Recent Segmental Duplications in the Human Genome},
  author={Jeffrey A. Bailey and Zhiping Gu and Royden A. Clark and Knut Reinert and Rhea Vallente Samonte and S Schwartz and Mark D. Adams and Eugene W. Myers and Peter W. Li and Evan E. Eichler},
  journal={Science},
  year={2002},
  volume={297},
  pages={1003 - 1007}
}
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of… 
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TLDR
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TLDR
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TLDR
It is determined that 33% of human duplications are not duplicated in chimpanzee, including some human disease-causing duplications, and that de novo duplication has contributed most significantly to differences between the species, followed by deletion of ancestral duplications.
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TLDR
A detailed analysis of recent duplication content within the mouse genome is presented using a whole-genome assembly comparison method and a novel assembly independent method, designed to take advantage of the reduced allelic variation of the C57BL/6J strain.
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TLDR
Exciting new findings suggest that SDs have not only created novel primate gene families, but might have also influenced current human genic and phenotypic variation on a previously unappreciated scale.
Analysis of recent segmental duplications in the bovine genome
TLDR
The results suggest that in most mammalian lineages segmental duplications are organized in a tandem configuration, which provides insights into mammalian genome evolution and generates a valuable resource for cattle genomics research.
The evolution and population diversity of human-specific segmental duplications
TLDR
It is shown that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed ‘core duplicons’ and evolved primarily in an interspersed inverted orientation, candidates for the evolution of human-specific adaptive traits.
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