Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
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DOI：
10.1016/s0888-7543(03)00010-7
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发表时间：
2003-03-01
期刊：
影响因子：
4.4
通讯作者：
Hunt, DM
中科院分区：
文献类型：
--
作者：
Johnson, S;Halford, S;Hunt, DM
在CORD 7中的Rab 3A相互作用分子（RIM，1）基因中已经鉴定出突变，CORD 7是一种常染色体显性视锥-视杆细胞营养不良，定位于染色体6 q14。G到A点突变导致在与疾病分离的蛋白质的C，A结构域中的Arg 844 His取代。这种突变在超过200个对照染色体中不存在，表明它不是常见的多态性，并且人类和大鼠RIM 1之间的C，A结构域的几乎完整的序列保守性与该变化的疾病作用一致。RIM 1在大脑和视网膜的光感受器中表达，在视网膜中RIM 1定位于带状突触中的突触前带状物。RIM 1基因由至少35个外显子组成，跨越577 kb的基因组DNA，编码多达1693个残基的蛋白质。转录本显示出涉及外显子17、21-26和28-30的广泛的选择性剪接。(C)2003 Elsevier Science（美国）。All rights reserved.
A mutation has been identified in the Rab3A-interacting molecule (RIM,l) 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,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,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. (C) 2003 Elsevier Science (USA). All rights reserved.