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Gene Review:

Myl7 - myosin, light polypeptide 7, regulatory

Mus musculus

Synonyms: MLC-2a, MLC-2alpha, MLC2a, MYL2A, Mylc2a, ...

Chen, J. et al., Gruber, P.J. et al., Franco, D. et al., Doevendans, P.A. et al., Huang, C. et al., et al.

Doevendans, Bronsaer, Lozano, Kubalak, van Bilsen,

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Disease relevance of Myl7

However, despite the substitution of myosin light chain 2a, ultrastructural analysis revealed defects in sarcomeric assembly and an embryonic form of dilated cardiomyopathy characterized by a significantly reduced left ventricular ejection fraction in mutant embryos compared with wild type littermates [1].
Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice [2].

High impact information on Myl7

Lastly, we show that the intermediate anatomic phenotype displayed by heterozygous embryos is mirrored in the molecular marker MLC-2a [3].
Diminished atrial function in MLC2a-null embryos resulted in a number of consistent secondary abnormalities in both cardiac morphogenesis and angiogenesis [4].
Additionally, wild-type ventricular muscle cells grafted into the wild-type background appropriately downregulate MLC-2a and alpha-MHC [5].
We developed novel, fluorescent-based, myocardial, cellular transplantation systems in order to study these questions in murine embryos and report the irreversible nature of chamber specification with respect to the downregulation of atrial myosin light chain 2 (MLC-2a) and alpha myosin heavy chain (alpha-MHC) [5].
5. In mutant ventricles, the myosin light chain 2a protein level is increased and reaches levels comparable to the myosin light chain 2v in the ventricles of wild type littermates and is appropriately incorporated into the thick filaments of mutant embryonic hearts [1].

Biological context of Myl7

Sequence comparison revealed the presence of the final exon (11) of the mouse glucokinase gene on chromosome 11, 2.0 kb upstream of the Mylc2a transcription start site [6].

Anatomical context of Myl7

Myosin light chain 2a and 2v identifies the embryonic outflow tract myocardium in the developing rodent heart [7].

Other interactions of Myl7

With development, myocardial cells are observed in the lower endocardial ridges that share MLC2a and MLC2v expression with the myocardial cells of the outflow tract [7].
In neonates, MLC2a continues to be expressed around both right and left semilunar valves, the outlet septum and the non-trabeculated right ventricular outlet [7].

References

Selective requirement of myosin light chain 2v in embryonic heart function. Chen, J., Kubalak, S.W., Minamisawa, S., Price, R.L., Becker, K.D., Hickey, R., Ross, J., Chien, K.R. J. Biol. Chem. (1998) [Pubmed]
Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice. Kazuki, Y., Kimura, M., Nishigaki, R., Kai, Y., Abe, S., Okita, C., Shirayoshi, Y., Schulz, T.C., Tomizuka, K., Hanaoka, K., Inoue, T., Oshimura, M. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice. Gruber, P.J., Kubalak, S.W., Pexieder, T., Sucov, H.M., Evans, R.M., Chien, K.R. J. Clin. Invest. (1996) [Pubmed]
Embryonic atrial function is essential for mouse embryogenesis, cardiac morphogenesis and angiogenesis. Huang, C., Sheikh, F., Hollander, M., Cai, C., Becker, D., Chu, P.H., Evans, S., Chen, J. Development (2003) [Pubmed]
Downregulation of atrial markers during cardiac chamber morphogenesis is irreversible in murine embryos. Gruber, P.J., Kubalak, S.W., Chien, K.R. Development (1998) [Pubmed]
The murine atrial myosin light chain-2 gene: a member of an evolutionarily conserved family of contractile proteins. Doevendans, P.A., Bronsaer, R., Lozano, P.R., Kubalak, S., van Bilsen, M. Cytogenet. Cell Genet. (2000) [Pubmed]
Myosin light chain 2a and 2v identifies the embryonic outflow tract myocardium in the developing rodent heart. Franco, D., Markman, M.M., Wagenaar, G.T., Ya, J., Lamers, W.H., Moorman, A.F. Anat. Rec. (1999) [Pubmed]

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