Figure 1.

Mapping and genomic structure of BBS2L1 and its murine ortholog. The position and size of each exon of the human and mouse transcript are shown (black boxes). In the human transcript, two different splice variants of exon 18 are shown. In the short isoform, the 124-bp–long exon 18 is contiguous with an additional 417-bp 3′ UTR (box with diagonal dashes), whereas, in the long isoform, this exon is spliced with a new 726-bp exon that encodes an additional 44 residues and a different 3′ UTR (dotted box). We subsequently termed this locus “BBS7” because of the presence of pathogenic mutations that segregated with BBS.