Identification of a Novel Vertebrate-specific chaperone, BBS12, That Causes Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that occurs in approximately 1in 150,000 individuals. The syndrome is characterized by retinitis pigmentosa, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. Scientists from JHU, Baylor and France have identified a new BBS gene (BBS12) that accounts for ~ 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These BBS genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome. Additionally, the three genes together account for about one-third of the total BBS mutational load. When each of the three genes are suppressed in zebrafish, the result is gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, leading to the idea of partial functional redundancy within this protein family. Proposed Use (Set) Potential uses of this invention include biological and diagnostic assays of the syndrome, detection, and DNA probes. Research tools in the form of animal models can be generated.

Inventor(s): Katsanis, Nicholas

Type of Offer: Licensing

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