Primate segmental duplications: crucibles of evolution, diversity and disease.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Bailey, Jeffrey A; Eichler, Evan E
Year of Publication: 2006
Journal: Nat Rev Genet
Volume: 7
Issue: 7
Pagination: 552-64
Date Published: 2006 Jul
Publication Language: eng
ISSN: 1471-0056
Keywords: Animals, Evolution, Molecular, Gene Duplication, Genetic Diseases, Inborn, Genetic Variation, Humans, Primates

Compared with other mammals, the genomes of humans and other primates show an enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence identity. Recent evidence has begun to shed light on the origin of primate SDs, pointing to a complex interplay of mechanisms and indicating that distinct waves of duplication took place during primate evolution. There is also evidence for a strong association between duplication, genomic instability and large-scale chromosomal rearrangements. 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. A growing number of examples link natural human genetic variation of these regions to susceptibility to common disease.

DOI: 10.1038/nrg1895
Alternate Journal: Nat. Rev. Genet.