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首页> 外文期刊>Genomics >Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.
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Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.

机译：人类肌钙蛋白基因的紧密物理联系：编码心肌肌钙蛋白I和慢速骨骼肌钙蛋白T的基因座的组织，序列和表达。

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摘要

Based on chromosomal mapping data, we recently revealed an unexpected linkage of troponin genes in the human genome: the six genes encoding striated muscle troponin I and troponin T isoforms are located at three chromosomal sites, each of which carries a troponin I-troponin T gene pair. Here we have investigated the organization of these genes at the DNA level in isolated P1 and PAC genomic clones and demonstrate close physical linkage in two cases through the isolation of individual clones containing a complete troponin I-troponin T gene pair. As an initial step toward fully characterizing this pattern of linkage, we have determined the organization and complete sequence of the locus encoding cardiac troponin I and slow skeletal troponin T and thereby also provide the first determination of the structure and sequence of a slow skeletal troponin T gene. Our data show that the genes are organized head to tail and are separated by only 2.6 kb of intervening sequence. In contrast to other troponin genes, and despite their close proximity, the cardiac troponin I and slow skeletal troponin T genes show independent tissue-specific expression. Such close physical linkage has implications for the evolution of the troponin gene families, for their regulation, and for the analysis of mutations implicated in cardiomyopathy. Copyright 1999 Academic Press.
机译：根据染色体作图数据，我们最近揭示了人类基因组中肌钙蛋白基因的意外关联：编码横纹肌肌钙蛋白I和肌钙蛋白T亚型的六个基因位于三个染色体位点，每个位点都携带肌钙蛋白I-肌钙蛋白T基因对。在这里，我们在分离的P1和PAC基因组克隆中研究了这些基因在DNA水平上的组织，并通过分离包含完整肌钙蛋白I-肌钙蛋白T基因对的单个克隆，证明了两种情况下的紧密物理联系。作为全面表征这种连接方式的第一步，我们已经确定了编码心脏肌钙蛋白I和慢速骨骼肌钙蛋白T的基因座的组织和完整序列，从而首次确定了慢速骨骼肌钙蛋白T的结构和序列基因。我们的数据表明，这些基因从头到尾都是有组织的，并且仅由2.6 kb的插入序列隔开。与其他肌钙蛋白基因相比，尽管它们非常接近，但心脏肌钙蛋白I和慢速骨骼肌钙蛋白T基因显示出独立的组织特异性表达。这种紧密的物理联系对肌钙蛋白基因家族的进化，其调节以及与心肌病有关的突变的分析具有影响。版权所有1999 Academic Press。

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