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Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene,  BBS3  ( ARL6 ), which includes an additional exon. This transcript, BBS3L, is evolutionally conserved and is expressed predominantly in the eye, suggesting a specialized role in vision. Using antisense oligonucleotide knockdown in zebrafish, we previously demonstrated that  bbs3  knockdown results in the cardinal features of BBS in zebrafish, including defects to the ciliated Kupffer's Vesicle and delayed retrograde melanosome transport. Unlike  bbs3 , knockdown of  bbs3L  does not result in Kupffer's Vesicle or melanosome transport defects, rather its knockdown leads to impaired visual function and mislocalization of the photopigment green cone opsin. Moreover,  BBS3L  RNA, but not  BBS3  RNA, is sufficient to rescue both the vision defect as well as green opsin localization in the zebrafish retina. In order to demonstrate a role for  Bbs3L  function in the mammalian eye, we generated a  Bbs3L-null  mouse that presents with disruption of the normal photoreceptor architecture.  Bbs3L-null  mice lack key features of previously published  Bbs-null  mice, including obesity. These data demonstrate that the  BBS3L  transcript is required for proper retinal function and organization.

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform