The Jackson Laboratory

Sequana Therapeutics, Inc.

Hoffmann-la Roche Inc.

Axys Pharmaceuticals, Inc.

Jackson Lab.

Patsy M Nishina

Juergen K Naggert

Michael North

Konrad Noben-Trauth

Mitchell L Martin

Gayle B Collin

Jan Marshall

W Venus So

The present invention relates to a nucleic acid sequence linked to Alstr&#xf6;m syndrome, variants of that nucleic acid sequence, the protein produced by that nucleic acid sequence and screening methods for testing individuals to determine if they are carriers of Alstr&#xf6;m syndrome.

Alstr&#xf6;em syndrome gene, gene variants, expressed protein and methods of diagnosis for Alstr&#xf6;em syndrome

Nucleic acid compositions are provided that encode a family of mammalian proteins expressed in the retina and brain. Members of the gene family are genetically linked to various neurosensory defects, including cochlear degeneration, peripheral retinal degeneration and cone-rod retinal dystrophy. The nucleic acid compositions find use in identifying DNA sequences encoding homologous or related proteins; for production of the encoded protein; and in studying associated physiological pathways. In addition, modulation of the gene activity in vivo is used for prophylactic and therapeutic purposes, such as treatment of neurosensory defects, identification of retinal cells based on expression, and the like. The DNA is further used as a diagnostic for genetic predisposition to the linked neurosensory defect.

Gene family associated with neurosensory defects

The gene responsible for the autosomal recessive mouse obesity mutation tub was identified by positional cloning. The homologous human gene is also provided. The genes are used to produce tubby protein; in screening for compositions that modulate the expression or function of the tubby protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to obesity, retinal degeneration or cochlear degeneration. The mutation responsible for the tub phenotype is a G to T transversion that abolishes a donor splice site in the 3' coding region and results in a larger transcript containing the unspliced intron. A second, prematurely truncated transcript arises from the introduction of a premature polyadenylation site in the unspliced intron.

Obesity associated genes

The gene responsible for an autosomal dominant con-rod retinal dystrophy is identified, TULP2. The genes are used to produce the encoded protein; in screening for compositions that modulate the expression or function of TULP2 protein; and in studying associated physiological pathways.

Identification of a gene encoding TULP2, a retina specific protein

The gene responsible for the autosomal recessive retinal degenerative disease RP 14 is identified, TULP1. The genes are used to produce the encoded protein; in screening for compositions that modulate the expression or function of TULP1 protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to retinal degeneration.

Growing community of inventors

Bar Harbor, ME, United States of America

Patsy M Nishina