Bardet-biedl susceptibility gene and uses thereof

Details Bardet-biedl susceptibility gene and uses thereof Bardet-biedl susceptibility gene and uses thereof

2006-05-16

2006-05-16

Ulm, John (Department: 1646)

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Recombinant dna technique included in method of making a...

C530S350000, C536S023500

Reexamination Certificate

active

07045317

ABSTRACT:
The present invention relates to the identification of a gene, now designated BBS4, 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 BBS4 protein disclosed herein is 519 amino acids in length and is coded for by a gene spanning 16 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.

REFERENCES:
patent: WO 00/14251 (2000-03-01), None
patent: WO 01/00825 (2001-01-01), None
Hoang et al., “Cloning a novel C-terninal kinesin (KIFC3) that maps chromosome 16q-q21 and thus is a candidate gene for bardet-biedl syndrome,”Genomics, 52:219-222, 1998.

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