title: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
abstract: X-linked retinitis pigmentosa (xlRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xlRP, RP3, has been localised to the interval between CYBB and OTC in Xp21.1 by linkage analysis and deletion mapping. Identification of microdeletions within this region has now led to the positional cloning of a gene, RPGR, that spans 60 kg of genomic DNA and is ubiquitously expressed. The predicted 90 kD protein contains in its N-terminal half a tandem repeat structure highly similar to RCC1 (regulator of chromosome condensation), suggesting an interaction with a small GTPase. The C-terminal half contains a domain, rich in acidic residues, and ends in a potential isoprenylation anchorage site. The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
authors.affiliation: Abteilung Pädiatrische Genetik, Kinderpoliklinik der Universität München, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: K
authors.initials: K
authors.lastname: Dry
authors.forename: K
authors.initials: K
authors.lastname: Herrmann
authors.forename: F
authors.initials: F
authors.lastname: Manson
authors.forename: A
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: A
authors.initials: A
authors.lastname: Edgar
authors.forename: M R
authors.initials: MR
authors.lastname: Carvalho
authors.forename: H
authors.initials: H
authors.lastname: Achatz
authors.forename: H
authors.initials: H
authors.lastname: Hellebrand
authors.forename: A
authors.initials: A
authors.lastname: Lennon
authors.forename: C
authors.initials: C
authors.lastname: Migliaccio
authors.forename: K
authors.initials: K
authors.lastname: Porter
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
authors.forename: A
authors.initials: A
authors.lastname: Bird
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: B
authors.initials: B
authors.lastname: Wittwer
authors.forename: M
authors.initials: M
authors.lastname: D'Urso
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Wright
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000096:biosynthesis* / Q000235:genetics*; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D017124:Conserved Sequence; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D020558:GTP Phosphohydrolases / Q000378:metabolism; D019204:GTP-Binding Proteins / Q000235:genetics*; D015870:Gene Expression; D020662:Guanine Nucleotide Exchange Factors; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017368:Protein Prenylation; D012091:Repetitive Sequences, Nucleic Acid; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012441:Saccharomyces cerevisiae / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome; D014981:Xenopus; D029867:Xenopus Proteins
chemical_list: D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D020662:Guanine Nucleotide Exchange Factors; D009687:Nuclear Proteins; C499304:RCC1 protein, Xenopus; C062521:RCC1 protein, human; C099929:RPGR protein, human; D029867:Xenopus Proteins; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins