Structural organization and chromosomal assignment of the gene encoding endothelin.
Structural organization and chromosomal assignment of the gene encoding endothelin.
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DOI：
10.1016/s0021-9258(18)81698-2
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发表时间：
1989-06
期刊：
影响因子：
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通讯作者：
Kenneth D. Bloch;S. Friedrich;Mu-En Lee;R. Eddy;T. Shows;Thomas Quertermous
中科院分区：
文献类型：
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作者：
Kenneth D. Bloch;S. Friedrich;Mu-En Lee;R. Eddy;T. Shows;Thomas Quertermous
内皮素是由血管内皮细胞合成和分泌的21个氨基酸的血管收缩剂。人肽衍生自212个氨基酸的前体，前内皮素原。分离了一个含有与人内皮素原mRNA互补的DNA的近全长克隆，并测定了其核苷酸序列。使用此cDNA作为探针，人内皮素基因的基因组组织被确定和启动子区划定。该基因包含5个外显子和4个插入序列。编码内皮素的核苷酸序列包含在第二外显子内，第三外显子指定与内皮素同源的内皮素前原的一部分。第二和第三外显子可以代表共同祖先外显子的后代。该基因的3′-非翻译部分包含一个250个碱基对的区域，该区域在人和猪基因组之间高度保守，可能在内皮素mRNA的稳定性中起重要作用。根据从人-鼠体细胞杂交细胞系中分离的DNA，将内皮素基因定位于人6号染色体。
Endothelin is a 21-amino acid vasoconstrictor synthesized and secreted by vascular endothelial cells. The human peptide is derived from a 212-amino acid precursor, preproendothelin. A nearly full length clone containing DNA complementary to human preproendothelin mRNA was isolated, and its nucleotide sequence was determined. Using this cDNA as a probe, the genomic organization of the human endothelin gene was determined and the promoter region delineated. The gene contains five exons and four intervening sequences. Nucleotide sequences encoding endothelin are contained within the second exon, and the third exon specifies a portion of preproendothelin that is homologous to endothelin. The second and third exons may represent descendants of a common progenitor exon. The 3′-untranslated portion of the gene contains a 250-base pair region that is highly conserved between human and porcine genomes and may have an important role in endothelin mRNA stability. On the basis of DNA isolated from human-mouse somatic hybrid cell lines, the endothelin gene was assigned to human chromosome 6.