A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
复制标题
在色素性视网膜炎家族中，ROM1 杂合假定无效突变，但外周蛋白/RDS 不存在突变。
DOI：
10.1006/geno.1995.1066
复制
发表时间：
1995
期刊：
影响因子：
4.4
通讯作者：
Fujiki,K
中科院分区：
文献类型：
--
作者：
Sakuma,H;Inana,G;Murakami,A;Yajima,T;Weleber,RG;Murphey,WH;Gass,JD;Hotta,Y;Hayakawa,M;Fujiki,K
ROM1是杆状感光细胞外膜蛋白，由351个氨基酸组成，大小为37 kDa。ROM1与外周蛋白/RDS相关，后者是在视杆细胞和视锥细胞中都发现的另一种外节段膜蛋白。ROM1或外周蛋白/RDS的确切功能尚不清楚，但已被认为在杆状感光细胞外节段盘的功能和/或结构中发挥重要作用。最近的一份报告表明，RP可能是由ROM1中的杂合子零突变引起的，但只能与外周蛋白/RDS中的另一个杂合子突变相结合，从而将ROM1与疾病联系起来。用聚合酶链式反应扩增、变性梯度凝胶电泳法和DNA直接测序法对ROM1基因进行筛选，在一个RP家系中发现了相同的杂合子推定零突变。
ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP.