Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
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DOI：
10.1038/81555
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发表时间：
2000-11-01
期刊：
影响因子：
30.8
通讯作者：
Vollrath, D
中科院分区：
文献类型：
--
作者：
Gal, A;Li, Y;Vollrath, D
受体酪氨酸激酶基因Mertk在皇家外科学院（RCS）大鼠1中的突变导致视网膜色素上皮（RPE）对光感受器外节的吞噬缺陷和视网膜变性2、3、4、5、6、7、8、9。我们筛选了位于2q14的人类直系同源物MERTK。1（参考文献10），在328个来自各种视网膜营养不良个体的DNA样本中，发现了三个视网膜色素变性（RP）个体中的三个突变。我们的研究结果是第一个确凿的证据表明，RPE吞噬途径在人类视网膜疾病。
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat 1 results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration 2, 3, 4, 5, 6, 7, 8, 9. We screened the human orthologue, MERTK, located at 2q14. 1 (ref. 10), in 328 DNA samples from individuals with various retinal dystrophies and found three mutations in three individuals with retinitis pigmentosa (RP). Our findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.