Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

被引：179

作者：

Horstick, Eric J. ^{[1
]}

Linsley, Jeremy W. ^{[2
]}

Dowling, James J. ^{[3
]}

Hauser, Michael A. ^{[4
,5
]}

McDonald, Kristin K. ^{[4
,5
]}

Ashley-Koch, Allison ^{[4
,5
]}

Saint-Amant, Louis ^{[1
,6
]}

Satish, Akhila ^{[1
]}

Cui, Wilson W. ^{[2
]}

Zhou, Weibin ^{[1
,7
]}

Sprague, Shawn M. ^{[1
]}

Stamm, Demetra S. ^{[8
]}

Powell, Cynthia M. ^{[9
,10
]}

Speer, Marcy C. ^{[11
]}

Franzini-Armstrong, Clara ^{[12
]}

Hirata, Hiromi ^{[13
]}

Kuwada, John Y. ^{[1
,2
]}

机构：

[1] Univ Michigan, Dept Mol Cellular & Dev Biol, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Cell & Mol Biol Program, Ann Arbor, MI 48109 USA

[3] Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA

[4] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA

[5] Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA

[6] Univ Montreal, Dept Pathol & Biol Cellulaire, Montreal, PQ H3T 1J4, Canada

[7] Univ Michigan, Dept Pediat & Communicat Dis, Ann Arbor, MI 48109 USA

[8] Univ Calif Davis, Dept Internal Med, Sacramento, CA 95817 USA

[9] Univ N Carolina, Dept Pediat, Chapel Hill, NC 27599 USA

[10] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA

[11] Duke Univ, Ctr Human Genet, Durham, NC 27710 USA

[12] Univ Penn, Dept Cell & Dev Biol, Sch Med, Philadelphia, PA 19104 USA

[13] Natl Inst Genet, Frontier Res Ctr, Mishima, Shizuoka 4118540, Japan

来源：

NATURE COMMUNICATIONS | 2013年 / 4卷

基金：

美国国家科学基金会;

关键词：

CALCIUM-RELEASE CHANNEL; SKELETAL-MUSCLE; CONGENITAL MYOPATHY; CA2+ RELEASE; ZEBRAFISH; RECEPTOR; MUTATIONS; REM; MUTANTS; PROTEIN;

D O I：

10.1038/ncomms2952

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca2+ from internal stores to initiate muscle contraction. Defects in excitation-contraction coupling are associated with muscle diseases. Here we identify Stac3 as a novel component of the excitation-contraction coupling machinery. Using a zebrafish genetic screen, we generate a locomotor mutation that is mapped to stac3. We provide electrophysiological, Ca2+ imaging, immunocytochemical and biochemical evidence that Stac3 participates in excitation-contraction coupling in muscles. Furthermore, we reveal that a mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy (NAM). Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies.

引用

页数：11

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