Barton P J, Townsend P J, Brand N J, Yacoub M H
National Heart and Lung Institute, Imperial College School of Medicine, London.
Ann Hum Genet. 1997 Nov;61(Pt 6):519-23. doi: 10.1046/j.1469-1809.1997.6160519.x.
We have localized the gene encoding the fast skeletal muscle isoform of troponin I (TNNI2) to 11p15.5 by PCR-based analysis of somatic cell hybrid panels: based on the Genebridge4 radiation hybrid panel, TNNI2 is coincident with the marker D11S922. The gene encoding the fast skeletal muscle troponin T gene (TNNT3) has been previously assigned to 11p15.5 suggesting that TNNI2 and TNNT3 may be closely linked. The overall location of genes encoding troponin I and T isoforms now reveals that they are organized at three loci each containing a troponin I/troponin T gene pair. This organization contrasts with all other sarcomeric protein genes and has implications for the evolution of these two gene families, for their regulation and for the analysis of mutations suspected to result in cardiomyopathy.
我们通过对体细胞杂交板进行基于聚合酶链反应（PCR）的分析，将编码肌钙蛋白I快速骨骼肌亚型（TNNI2）的基因定位到了11p15.5：基于Genebridge4辐射杂交板，TNNI2与标记D11S922重合。编码快速骨骼肌肌钙蛋白T基因（TNNT3）先前已被定位到11p15.5，这表明TNNI2和TNNT3可能紧密连锁。现在，编码肌钙蛋白I和T亚型的基因的整体定位显示，它们在三个位点上组织排列，每个位点都包含一个肌钙蛋白I/肌钙蛋白T基因对。这种组织排列与所有其他肌节蛋白基因不同，对这两个基因家族的进化、调控以及对怀疑导致心肌病的突变分析都有影响。
