Bardet-Biedl susceptibility gene and uses thereof
AssigneeUniversity of Iowa Research Foundation
InventorsVal Sheffield, Edwin Stone, Thomas Casavant, Terry Braun, Darryl Nishimura
Life of this patent
Estimating the term…
Abstract
The present invention relates to the designation of ADP-ribosylation factor-like 6 as the BBS3 gene, 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. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.
Claims31
An isolated and purified nucleic acid encoding a human ADP-ribosylation factor-like 6 polypeptide comprising the sequence of SEQ ID NO:2 or 4.
An oligonucleotide of about 10 to about 50 bases comprising at least 10 consecutive bases including base 364 or 499 of SEQ ID NO:1 or 3 or the complement thereof.
An isolated and purified human ADP-ribosylation factor-like 6 polypeptide comprising the sequence of SEQ ID NO:2 or 4.
A peptide of 8 to 50 residues comprising at least 5 consecutive residues including residue 122 of of SEQ ID NO:2 or 4.
A method of diagnosing Bardet-Biedl Syndrome (BBS) comprising identifying a mutation in a human ADP-ribosylation factor-like 6 polypeptide or nucleic acid.
31-41. (canceled)
Dependencies are inferred from the claim text.