Human growth gene and short stature gene region

Details Human growth gene and short stature gene region Human growth gene and short stature gene region

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 38/17 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2267097

Subject of the present invention is an isolated human nucleic acid molecule encoding polypeptides containing a homeobox domain of sixty amino acids having the amino acid sequence of SEQ ID NO:1 and having regulating activity on human growth. Three novel genes residing within the about 500 kb short stature critical region on the X and Y chromosome were identified. At least one of these genes is responsible for the short stature phenotype. The cDNA corresponding to this gene may be used in diagnostic tools, and to further characterize the molecular basis for the short stature-phenotype. In addition, the identification of the gene product of the gene provides new means and methods for the development of superior therapies for short stature.

La présente invention concerne une molécule d'acide nucléique de l'homme isolée codant des polypeptides contenant un domaine de boîte homéotique de soixante acides aminés présentant la séquence d'acides aminés de SEQ ID NO:1 et exerçant une activité de régulation de la croissance chez l'homme. Trois nouveaux gènes résidant dans la zone critique de l'insuffisance staturale d'environ 500 kb sur le chromosome X et Y ont été identifiés. Un de ces gènes, au moins, est responsable du phénotype de l'insuffisance staturale. L'ADNc correspondant à ce gène peut être utilisé comme outil de diagnostique, et pour mieux caractériser la base moléculaire de ce phénotype de l'insuffisance staturale. En outre, l'identification du produit génique de ce gène fournit de nouveaux moyens et procédés pour développer des thérapies plus avancées et traiter l'insuffisance staturale.

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