Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.
Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.
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DOI：
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发表时间：
1989-05
期刊：
影响因子：
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通讯作者：
M. Bashir;Z. Indik;H. Yeh;N. Ornstein-Goldstein;J. Rosenbloom;W. Abrams;M. Fazio;J. Uitto;J. Rosenbloom
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文献类型：
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作者：
M. Bashir;Z. Indik;H. Yeh;N. Ornstein-Goldstein;J. Rosenbloom;W. Abrams;M. Fazio;J. Uitto;J. Rosenbloom
已经获得了包含整个人弹性蛋白基因的基因组克隆，包括ATG翻译起始密码子侧翼的11个内切酶，并通过限制性内切酶分析和广泛的DNA测序进行了表征。这些分析表明，功能不同的疏水和交联结构域的蛋白质分离到单独的外显子在整个基因。所有外显子都是三个核苷酸的倍数，外显子：内含子边界总是以允许盒样选择性剪接的相同方式分裂密码子。5 '-侧翼区缺乏典型的TATA序列，富含G + C，并含有几个SP1结合位点和一个AP 2结合位点。引物延伸和S1核酸酶保护实验表明，转录起始于基因中的多个位点。
Genomic clones encompassing the entire human elastin gene, including 11 kilobases flanking the ATG translation initiation codon, have been obtained and characterized by restriction enzyme analysis and extensive DNA sequencing. These analyses demonstrated that functionally distinct hydrophobic and cross-linking domains of the protein are segregated into separate exons throughout the gene. All exons are multiples of three nucleotides, and exon:intron borders always split codons in the same way which permits cassette-like alternative splicing. The 5'-flanking region lacks a canonical TATA sequence, is G + C-rich, and contains several SP1 binding sites and an AP2 binding site. Primer extension and S1 nuclease protection experiments indicate that transcription is initiated at multiple sites in the gene.