Segmental duplications in the human genome reveal details of pseudogene formation.

ABSTRACT: Duplicated pseudogenes in the human genome are disabled copies of functioning parent genes. They result from block duplication events occurring throughout evolutionary history. Relatively recent duplications (with sequence similarity≥90% and length≥1 kb) are termed segmental duplications (SDs); here, we analyze the interrelationship of SDs and pseudogenes. We present a decision-tree approach to classify pseudogenes based on their (and their parents') characteristics in relation to SDs. The classification identifies 140 novel pseudogenes and makes possible improved annotation for the 3172 pseudogenes located in SDs. In particular, it reveals that many pseudogenes in SDs likely did not arise directly from parent genes, but are the result of a multi-step process. In these cases, the initial d

SUBMITTER: Khurana E 

PROVIDER: S-EPMC2978362 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature