title: Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.
abstract: Retinitis pigmentosa (RP) is a frequent retinal dystrophy characterized by a progressive loss of photoreceptors along with retinal degeneration. RIM1, encoding a presynaptic protein involved in the glutamate neurotransmission, is the responsible gene for autosomal dominant cone-rod dystrophy CORD7, whose locus overlaps partially with a locus of autosomal recessive RP (arRP), RP25. Given the genetic heterogeneity that features RP, it is plausible that mutations in RIM1 are also implicated in the disease in arRP families genetically linked to the CORD7 region. To test our hypothesis we analysed the complete RIM1 gene in 8 arRP families by DNA sequencing. Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated.
authors.affiliation: Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Avda. Manuel Sirot s/n, ES-41013 Seville, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Barragan
authors.forename: Irene
authors.initials: I
authors.lastname: Marcos
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D002896:Chromosomes, Human, Pair 6; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics*; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D009419:Nerve Tissue Proteins; C491492:RIMS1 protein, human; D019204:GTP-Binding Proteins