TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa
TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa
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DOI：
10.1038/ng0298-177
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发表时间：
1998-02-01
期刊：
影响因子：
30.8
通讯作者：
Gilliam, TC
中科院分区：
文献类型：
--
作者：
Banerjee, P;Kleyn, PW;Gilliam, TC
RP14常染色体隐性视网膜色素变性（arRP）基因座已定位于染色体6p21.3的2cM区域（参考文献1-3）。TULP1（编码管状蛋白1的基因）是该疾病突变的候选靶点，因为它映射到RP14最小遗传区域，并且因为高度同源的小鼠管状基因突变导致肥胖、耳聋和早期进行性视网膜变性（4-6）。在这里，我们报告了一个剪接位点突变（IVS14+1, G- > a），它在所有受影响的个体（N=33）中是纯合的，在所有专性携带者（N=50）中是杂合的。在210个不相关的对照中未观察到突变。这些数据表明，TULP1蛋白功能受损是arRP的罕见原因，正常蛋白在视网膜生理中起着至关重要的作用。
The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21.3 (refs 1-3). TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration(4-6). Here we report a splice-site mutation (IVS14+1, G-->A) that is homozygous in all affected individuals (N=33) and heterozygous in all obligate carriers (N=50) from two RP14-linked kindreds. The mutation was not observed in 210 unrelated controls. The data indicate that impairment of TULP1 protein function is a rare cause of arRP and that the normal protein plays an essential role in the physiology of the retina.