Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.
Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.
复制标题
编码相关微纤维蛋白 (MFAP1) 的人类基因的结构和定位于染色体 15q15-q21。
DOI：
10.1006/geno.1994.1521
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发表时间：
1994
期刊：
影响因子：
4.4
通讯作者：
Rosenbloom,J
中科院分区：
文献类型：
--
作者：
Yeh,H;Chow,M;Abrams,WR;Fan,J;Foster,J;Mitchell,H;Muenke,M;Rosenbloom,J
直径为 10-12 nm 的微原纤维与弹性蛋白结合或独立存在，是许多组织细胞外基质的重要组成部分。为了扩展我们对组成这些微原纤维的蛋白质的理解，编码人类相关微原纤维蛋白 (MFAP1) 的 cDNA 和基因已被克隆和表征。编码部分包含在 9 个外显子中，并且该序列与之前描述的鸡 cDNA 非常同源，但似乎与任何其他已知蛋白质没有同源性或结构域基序。有趣的是，通过体细胞杂交细胞和染色体原位分析，该基因已定位于染色体15q15-q21。已知马凡综合征中存在缺陷的原纤维蛋白基因 FBN1 也位于该染色体区域。 MFAP1 是影响微纤维的遗传性疾病的候选基因。
Microfibrils with a diameter of 10-12 nm, found either in association with elastin or independently, are an important component of the extracellular matrix of many tissues. To extend our understanding of the proteins composing these microfibrils, the cDNA and gene encoding the human associated microfibril protein (MFAP1) have been cloned and characterized. The coding portion is contained in 9 exons, and the sequence is very homologous to the previously described chick cDNA, but does not appear to share homology or domain motifs with any other known protein. Interestingly, the gene has been localized to chromosome 15q15-q21 by somatic hybrid cell and chromosomein situanalyses. This is the same chromosomal region to which the fibrillin gene, FBN1, known to be defective in the Marfan syndrome, has been mapped. MFAP1 is a candidate gene for heritable diseases affecting microfibrils.