TY - JOUR
T1 - Positional cloning of the gene for X-linked retinitis pigmentosa 3
T2 - Homology with the guanine-nucleotide-exchange factor RCC1
AU - Roepman, Ronald
AU - Van Duijnhoven, Gerard
AU - Rosenberg, Thomas
AU - Pinckers, Alfred J.L.G.
AU - Bleeker-Wagemakers, Liesbeth M.
AU - Bergen, Arthur A.B.
AU - Post, Jan
AU - Beck, Alfred
AU - Reinhardt, Richard
AU - Ropers, Hans Hilger
AU - Cremers, Frans P.M.
AU - Berger, Wolfgang
PY - 1996/7/1
Y1 - 1996/7/1
N2 - The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, 'YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3' end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide-exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein.
AB - The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, 'YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3' end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide-exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein.
UR - http://www.scopus.com/inward/record.url?scp=8944241311&partnerID=8YFLogxK
U2 - 10.1093/hmg/5.7.1035
DO - 10.1093/hmg/5.7.1035
M3 - Article
C2 - 8817343
AN - SCOPUS:8944241311
SN - 0964-6906
VL - 5
SP - 1035
EP - 1041
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 7
ER -