09/15: Comparative Genomics of a Conserved Chromosomal Region Associated with a Complex Human Phenotype

Abstract

Three genes that encode related Ig-superfamily molecules have recently been mapped to human chromosome 15 in the region q22.3-23, and to the syntenic region on mouse chromosome 9. These genes presumably derived from gene duplications and they are highly similar to Deleted in Colorectal Cancer (DCC), which functions as an axon guidance molecule during development of the nervous system. In order to find out whether additional genes of this class were present in a chromosomal cluster, we produced a comparative physical map within the region of synteny between mouse chromosome 9 and human chromosome 15. This interval overlaps the critical region for the fourth genetic locus for Bardet-Biedl Syndrome (BBS4) in humans. Bardet-Biedl Syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities. A detailed map of this locus will help to identify candidate genes for this disorder.