Nagamine K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Ito F, Shimizu N
Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160, Japan.
Genomics. 1998 Nov 15;54(1):124-31. doi: 10.1006/geno.1998.5551.
We have isolated cDNA clones for a novel human protein, TRPC7 (transient receptor potential-related channels), which consists of 1503 amino acid residues from the fetal brain and caudate nucleus cDNA libraries. Northern blot analysis indicated that the TRPC7 gene is highly expressed as a 6.5-kb transcript in brain. The TRPC7 protein has significant homology with Caenorhabditis elegans hypothetical proteins T01H8.5, C05C12.3, and F54D1.5 and with Drosophila and human transient receptor potential (trp) proteins. The TRPC7 protein has seven putative transmembrane domains that probably constitute a Ca2+ channel as in the above-mentioned proteins. Genomic sequencing revealed that the TRPC7 gene consists of 32 exons spanning approximately 90 kb. The TRPC7 gene was mapped between D21S400 and D21S171 on human chromosome 21q22.3, 14 kb distal to a NotI site in D21S400. This novel TRPC7 gene could be a candidate gene for genetic disorders such as bipolar affective disorder, nonsyndromic hereditary deafness, Knobloch syndrome, and holoprosencephaly, which were mapped to this region.
我们从胎儿脑和尾状核cDNA文库中分离出了一种新型人类蛋白TRPC7（瞬时受体电位相关通道）的cDNA克隆，该蛋白由1503个氨基酸残基组成。Northern印迹分析表明，TRPC7基因在脑中以6.5kb的转录本形式高度表达。TRPC7蛋白与秀丽隐杆线虫的假想蛋白T01H8.5、C05C12.3和F54D1.5以及果蝇和人类的瞬时受体电位（trp）蛋白具有显著的同源性。TRPC7蛋白具有七个推定的跨膜结构域，可能如上述蛋白一样构成一个Ca2+通道。基因组测序显示，TRPC7基因由32个外显子组成，跨度约为90kb。TRPC7基因定位于人类染色体21q22.3上的D21S400和D21S171之间，在D21S400的一个NotI位点远端14kb处。这个新的TRPC7基因可能是双相情感障碍、非综合征性遗传性耳聋、Knobloch综合征和前脑无裂畸形等遗传疾病的候选基因，这些疾病都定位于该区域。
