Bardet Biedl Syndrome Protein 7 (BBS7)

The BBS7 gene contains a single 672-amino acid open reading frame (ORF). The orthologous mouse protein exhibits 91.5% identity to the human BBS7 protein. Northern blot analysis of human adult and fetal tissues detected a 2.7-kb BBS7 transcript expressed at low to moderate levels in most human tissues. Northern blot analysis and RT-PCR confirmed the presence of 2 alternatively spliced isoforms.In 1 pedigree, they identified a more than 5-cM region of homozygosity, on 4q26-q27, that encompassed the BBS7 genomic locus. Performing additional linkage studies, they established that only the affected individual was homozygous across the region extending at least 2.6 cM proximally and more than 3 cM distal to BBS7, and they derived a multipoint lod score of 1.8 at theta = 0.001 for D4S408, which lies 2.6 cM proximal to BBS7.