Distinct troponin C isoform requirements in cardiac and skeletal muscle.
Distinct troponin C isoform requirements in cardiac and skeletal muscle.
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DOI：
10.1002/dvdy.22445
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发表时间：
2010-11
影响因子：
2.5
通讯作者：
Mably, John D.
中科院分区：
文献类型：
--
作者：
Sogah, Vanessa M.;Serluca, Fabrizio C.;Fishman, Mark C.;Yelon, Deborah L.;MacRae, Calum A.;Mably, John D.
斑马鱼突变的沉默伴侣的特征是畸形的非收缩心室，导致无法产生正常的血液流动。我们已经确定了慢速抽搐骨骼/心脏肌钙蛋白C基因的斑马鱼同系物中的遗传病变。尽管人类肌钙蛋白C1（TNNC1）在心脏和骨骼肌中均表达，但斑马鱼中该基因的复制导致了肌钙蛋白C表达和功能的组织特异性分配。斑马鱼旁系同源物TNNC1A的突变主要在心脏中表达，导致收缩力丧失和心室心肌细胞内的肌原纤维组织丧失，而骨骼肌保持功能和完整。我们进一步表明，发育中的心脏收缩性有缺陷会导致心房异常和心室腔室形态。总之，我们的结果表明，对于心肌细胞收缩机械的功能和结构完整性，需要TNNC1A，有助于阐明肌钙蛋白C介导的心肌病的潜在机制。
The zebrafish mutant silent partner is characterized by a dysmorphic, non-contractile ventricle resulting in an inability to generate normal blood flow. We have identified the genetic lesion in the zebrafish homolog of the slow twitch skeletal/cardiac troponin C gene. Although human troponin C1 (TNNC1) is expressed in both cardiac and skeletal muscle, duplication of this gene in zebrafish has resulted in tissue specific partitioning of troponin C expression and function. Mutation of the zebrafish paralog tnnc1a, which is expressed predominantly in the heart, results in a loss of contractility and myofibrillar organization within ventricular cardiomyocytes, while skeletal muscle remains functional and intact. We further show that defective contractility in the developing heart results in abnormal atrial and ventricular chamber morphology. Together, our results suggest that tnnc1a is required both for the function and structural integrity of the contractile machinery in cardiomyocytes, helping to clarify potential mechanisms of troponin C mediated cardiomyopathy.
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影响因子：
11.8
作者：
Kawakami, K;Takeda, H;Mishina, M
通讯作者：
Mishina, M
影响因子：
24
作者：
Mogensen, J;Murphy, RT;McKenna, WJ
通讯作者：
McKenna, WJ
DOI：
10.1196/annals.1302.018
发表时间：
2004-01-01
期刊：
CARDIAC ENGINEERING: FROM GENES AND CELLS TO STRUCTURE AND FUNCTION
影响因子：
--
作者：
Gomes, AV;Potter, JD
通讯作者：
Potter, JD
DOI：
10.1073/pnas.88.21.9828
发表时间：
1991-11-01
影响因子：
11.1
作者：
MICHELMORE, RW;PARAN, I;KESSELI, RV
通讯作者：
KESSELI, RV
影响因子：
56.9
作者：
Amores, A;Force, A;Postlethwait, JH
通讯作者：
Postlethwait, JH