Identification of the gene responsible for Best macular dystrophy
Identification of the gene responsible for Best macular dystrophy
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DOI：
10.1038/915
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发表时间：
1998-07-01
期刊：
影响因子：
30.8
通讯作者：
Wadelius, C
中科院分区：
文献类型：
--
作者：
Petrukhin, K;Koisti, MJ;Wadelius, C
最佳黄斑营养不良（BMD）。也称为黄斑营养不良（VMD2; OMIM 153700），是一种常染色体显性黄斑变性，其特征是视网膜色素上皮细胞内和下方的脂褐素异常积聚。为了寻找疾病基因，我们通过重组断点分析限制了最小遗传区域，并在该区域定位了一个新的视网膜特异性基因（VMD2）。遗传作图数据、鉴定五种独立的疾病特异性突变和表达研究提供了证据，表明候选基因内的突变是BMD的一个原因。候选基因的3' UTR包含一个与铁蛋白重链基因（FTH1）的3' UTR反义互补的区域，表明VMD2与FTH1转录本之间可能存在反义相互作用。
Best macular dystrophy (BMD). also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. In pursuit of the disease gene, we limited the minimum genetic region by recombination breakpoint analysis and mapped to this region a novel retina-specific gene (VMD2). Genetic mapping data, identification of five independent disease-specific mutations and expression studies provide evidence that mutations within the candidate gene are a cause of BMD. The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts.