Gene assignment, expression, and homology of human tropomodulin.
Gene assignment, expression, and homology of human tropomodulin.
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DOI：
10.1006/geno.1996.0245
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发表时间：
1996-05
期刊：
影响因子：
4.4
通讯作者：
L. Sung;Y. Fan;C. Lin
中科院分区：
文献类型：
--
作者：
L. Sung;Y. Fan;C. Lin
原调节蛋白是一种新鉴定的肌动蛋白细丝的尖端封端蛋白。它特异性地结合到原肌球蛋白的N端，并阻止原肌球蛋白包裹的肌动蛋白细丝的伸长和解聚。用1.9kb的人促性腺调节蛋白基因克隆，用荧光原位杂交方法定位其基因。原调蛋白基因被分配在人类染色体9q22.2-q22.3上，该区域还已知包含其他几个基因和疾病基因座，位于明胶蛋白和α-fodrin基因座的近端。原调节蛋白基因在人体主要组织中的表达水平如下：心脏和骨骼肌远大于脑、肺和胰腺，大于胎盘、肝脏和肾脏。人类原调节蛋白与Graves病(1D)的-kDa自身抗原有关联：在N端(69个残基)和C端(194个残基)区域，人原调节蛋白与Graves蛋白的同源性分别为42%和41%。Graves蛋白中段几个同源重复序列的插入，以及富含Pro的C末端的延伸，解释了Graves蛋白(572个残基)和原调节蛋白(359个残基)之间的长度差异。显著的序列一致性表明，这两个基因是从一个共同的祖先基因进化而来的。
Tropomodulin is a newly characterized pointed end capping protein for actin filaments. It binds specifically to the N terminus of tropomyosin and blocks the elongation and depolymerization of tropomyosin-coated actin filaments. A 1.9-kb human tropomodulin cDNA clone was used to map its gene by fluorescence in situ hybridization. The tropomodulin gene was assigned to human chromosome 9q22.2-q22.3, a region that is also known to contain several other genes and disease loci and is proximal to the loci for gelsolin and alpha-fodrin. The gene for tropomodulin is expressed in major human tissues at different levels in the following order: heart and skeletal muscle much greater than that in brain, lung, and pancreas, which is greater than that in placenta, liver, and kidney. Human tropomodulin and a 64-kDa autoantigen in Graves disease (1D) are related: tropomodulin has 42 and 41% identity with the Graves protein in the N-terminal (69 residue) and C-terminal (194 residue) regions, respectively. The insertion of several homologous repeats in the midsection of the Graves protein, together with the extension of a proline-rich C terminus, accounts for the differences in length between the Graves protein (572 residues) and tropomodulin (359 residues). The significant sequence identity indicates that these two genes are evolved from a common ancestral gene.