Gene family associated with neurosensory defects

Details Gene family associated with neurosensory defects Gene family associated with neurosensory defects

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/70 (2006.01) A61K 48/00 (2006.01) C07H 21/04 (2006.01) C07K 14/47 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2251603

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.

Compositions d'acides nucléiques codant une famille de protéines de mammifère exprimée dans la rétine et le cerveau. Des éléments de la famille génétique sont liés génétiquement à diverses déficiences neuro-sensorielles, dont les affections cochléaires dégénératives, les affections dégénératives de la périphérie de la rétine et la dystrophie des bâtonnets et des cônes de la rétine. Ces compositions d'acides nucléiques trouvent leur utilisation pour l'identification de séquences d'ADN codant des protéines homologues ou connexes; pour la production de la protéine codée; et pour l'étude des cheminements physiologiques associés. En outre, la modulation de l'activité du gène in vivo sert à des fins prophylactiques et thérapeutiques, comme le traitement des défaillances neuro-sensorielles, l'identification des cellules rétiniennes sur la base de l'expression, et d'autres applications. L'ADN sert en outre de diagnostic pour les prédispositions génétiques aux difficiences neuro-sensorielles liées.

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