Segmental duplications containing tandem repeated genes encoding putative deubiquitinating enzymes.

Abstract

Both inter- and intra-chromosomal segmental duplications are known occurred in human genome during evolution. Few cases of such segments involving functional genes have been reported. While searching for the human orthologs of murine hematopoietic deubiquitinating enzymes (DUBs), we identified four clusters of DUB-like genes on chromosome 4p15 and chromosome 8p22-23 that are over 90% identical to each other at the DNA level. These genes are expressed in a cell type- and activation-specific manner, with different clusters possessing potentially distinct expression profiles. Examining the surrounding sequences of these gene duplication events, we have identified previously unreported conserved sequence elements that are as large as 35 to 74 kb encircling the gene clusters. Traces of these elements are also found on chromosome 12p13 and chromosome 11q13. The coding and immediate upstream sequences for DUB-like genes as well as the surrounding conserved elements, are present in the chimpanzee trace database, but not in rodent genome. We hypothesize that the segments containing these DUB clusters and surrounding elements arose relatively recently in evolution through inter- and intra-chromosomal duplicative transpositions, following the divergence of primates and rodents. Genome wide systematical search of the segmental duplication containing duplicated gene cluster has been performed.