title: Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
abstract: A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A point mutation results in an Arg844His substitution in the C(2)A domain of the protein that segregates with disease. This mutation is absent in over 200 control chromosomes, indicating that it is not a common polymorphism, and the almost complete sequence conservation of the C(2)A domain between human and rat RIM1 is consistent with a disease role for the change. RIM1 is expressed in brain and photoreceptors of the retina where it is localised to the pre-synaptic ribbons in ribbon synapses. The RIM1 gene is composed of at least 35 exons, spans 577 kb of genomic DNA, and encodes a protein of up to 1693 residues. The transcript shows extensive alternative splicing involving exons 17, 21-26 and 28-30.
authors.affiliation: Institute of Ophthalmology, University College London, London, UK.
authors.forename: Samantha
authors.initials: S
authors.lastname: Johnson
authors.forename: Stephanie
authors.initials: S
authors.lastname: Halford
authors.forename: Alex G
authors.initials: AG
authors.lastname: Morris
authors.forename: Reshma J
authors.initials: RJ
authors.lastname: Patel
authors.forename: Susan E
authors.initials: SE
authors.lastname: Wilkie
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: David M
authors.initials: DM
authors.lastname: Hunt
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D016678:Genome; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers