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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.

Type

Journal article

Journal

Genomics

Publication Date

03/2003

Volume

81

Pages

304 - 314

Keywords

Alternative Splicing, Amino Acid Sequence, Base Sequence, DNA Primers, Female, Genes, Dominant, Genome, Humans, Male, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Retinitis Pigmentosa, Sequence Homology, Amino Acid