CLONING OF A NOVEL C-TERMINAL KINESIN (KIFC3) THAT MAPS TO HUMAN-CHROMOSOME 16Q13-Q21 AND THUS IS A CANDIDATE GENE FOR BARDET-BIEDL-SYNDROME

Kinesins are a large superfamily of microtubule motors that mediate sp ecific motile processes. In a previous study, we identified 11 kinesin family members in the retina and retinal pigment epithelium (RPE) of the striped bass, Morone saxatilus. We have now identified, cloned, an d sequenced the human homologue (KIFC3) of the most abundantly express ed retinal kinesin from that study, the C-terminal kinesin FKIF2. An a ntibody raised against an FKIF2 peptide crossreacted with an similar t o 80-kDa protein in human retina, RPE, kidney, and lung. Since microtu bule-dependent processes are critical to the function and morphogenesi s of the photoreceptors and RPE, the abundantly expressed KIFC3 was co nsidered to be a potential candidate gene for causing human retinal de generation. Chromosomal localization of the KIFC3 gene revealed that i t maps to chromosome 16q13-q21, within the critical region for a Barde t-Biedl syndrome locus (BBS2). Bardet-Biedl syndrome is a genetically heterogeneous, autosomal recessive disorder characterized by retinal d ystrophy, polydactyly, obesity, hypogonadism, renal abnormalities, and mental retardation. The chromosomal localization and expression patte rn of KIFC3 suggest that it may be an excellent candidate for families linked to BBS2. (C) 1998 Academic Press.