Bardet-biedl susceptibility gene and uses thereof
AssigneeUniversity of Iowa Research Foundation
InventorsVAL SHEFFIELD, DARRYL NISHIMURA, EDWIN STONE
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Abstract
The present invention relates to the identification of a gene, now designated negevin (ngvn), that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. The human NGVN protein disclosed herein is 731 amino acids in length and is coded for by a gene spanning 17 exons. Homologs have been identified in mouse, rat, zebrafish. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.
Claims16
An isolated and purified nucleic acid encoding a human negevin (NGVN) polypeptide comprising SEQ ID NO:2 or comprising a variant comprising one or more of the following changes:
- Val75Gly, Arg272Stp, Ile123Val, or a frameshift starting at residue 314 or residue 403 of SEQ ID NO:2 and which hybridize to a nucleic acid encoding SEQ ID NO:2 under high stringency conditions.
16-67. (canceled)
Dependencies are inferred from the claim text.