Identification of a novel protein interacting with RPGR

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In this Subject: Biology ,&nbsp; Biotechnology ,&nbsp; Pathology ,&nbsp; Genetics
By this author: Boylan, James P. ;&nbsp; Wright, AlanF.

Authors: Boylan, James P.; Wright, AlanF.

Source: Human Molecular Genetics, Volume 9, Number 14, 1 September 2000 , pp. 2085-2093(9)

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Abstract:

A novel protein, called RPGRIP, has been identified as interacting with the RPGR protein, which is mutated in a severe form of human retinal degeneration, X-linked retinitis pigmentosa (RP3type). The bovine RPGRIP was identified initially by screening for RPGR-interacting proteins with a bovine retina cDNA library using the yeast two-hybrid system. The specificity of the interaction was confirmed by co-immunoprecipitation of in vitrotranslated protein and using RPGR mutants. The human RPGRIPgene was isolated and shown to be expressed in retina and testis. Human RPGRIPspans a genomic interval of 34 kb, and consists of 15 exons, some of which are alternatively spliced. It was mapped using monochromosomal and radiation hybrid cell lines to chromosomal region 14q11. The function of RPGRIP is unknown; it shows no homology to proteins of known function, although it is predicted to form two coiled-coil domains at the N-terminus. RPGRIPis a strong candidate gene for causing human retinal degeneration.

Document Type: Research article

Publication date: 2000-09-01

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