Entry - *160742 - MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4 - OMIM
 
* 160742

MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4


Alternative titles; symbols

MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN
MYOSIN, HEAVY CHAIN, IIb; MYHC2B; MYH2B
MYHC IIb
MHC IIb


HGNC Approved Gene Symbol: MYH4

Cytogenetic location: 17p13.1     Genomic coordinates (GRCh38): 17:10,443,263-10,469,559 (from NCBI)


TEXT

For background information on the myosin heavy chain genes, see MYH1 (160730).


Cloning and Expression

Edwards et al. (1985) isolated a cDNA clone complementary to the mRNA encoding human myosin heavy chain from a fetal skeletal muscle cDNA library.

By RT-PCR of human skeletal muscle RNA, Weiss et al. (1999) cloned full-length MHC IIb. All MHC proteins share approximately 100% conservation in the phosphate-binding loop, several helices forming the nucleotide-binding pocket, residues involved in actin binding, residues involved in the stereospecific hydrophobic rigor state interaction of actin with myosin, a cleft that divides the ATP- and actin-binding sites, and a converter domain, or fulcrum, containing 2 conserved cysteines.


Mapping

Edwards et al. (1985) used a 600-bp fragment of an MYH4 cDNA as a probe in Southern analysis of DNA from panels of rat/human and mouse/human somatic cell hybrids. All sequences detected by this probe mapped to 17pter-p11. Soussi-Yanicostas et al. (1993) presented evidence that at least 5 skeletal myosin heavy chain genes are clustered in a 320-kb genomic segment. Thus, the MYH4 gene would appear to be located on 17p13.1, the location of 4 other myosin heavy chain genes (MYH1; MYH2, 160740; MYH3, 160720; and MYH8, 160741). Furthermore, Soussi-Yanicostas et al. (1993) had evidence from analysis of YACs that the embryonic and fetal genes, on the one hand, and the adult fast myosin heavy chain genes, on the other hand, are contained within different genomic fragments; see 160730. They suggested that the genes encoding the 2 developmental forms are adjacent in the human genome and that temporal regulation of the myosin heavy chain genes may be related to their organization within the cluster.


REFERENCES

  1. Edwards, Y. H., Parkar, M., Povey, S., West, L. F., Parrington, J. M., Solomon, E. Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe. Ann. Hum. Genet. 49: 101-109, 1985. [PubMed: 3000272, related citations] [Full Text]

  2. Soussi-Yanicostas, N., Whalen, R. G., Petit, C. Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. Hum. Molec. Genet. 2: 563-569, 1993. [PubMed: 8518795, related citations] [Full Text]

  3. Weiss, A., Schiaffino, S., Leinwand, L. A. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. J. Molec. Biol. 290: 61-75, 1999. [PubMed: 10388558, related citations] [Full Text]


Patricia A. Hartz - updated : 03/09/2006
Marla J. F. O'Neill - updated : 3/16/2004
Creation Date:
Victor A. McKusick : 10/17/1991
mgross : 03/09/2006
tkritzer : 3/16/2004
mgross : 2/12/2001
mgross : 2/12/2001
alopez : 4/30/1999
alopez : 4/30/1999
dkim : 7/2/1998
terry : 5/12/1994
carol : 10/21/1993
carol : 9/17/1993
supermim : 3/16/1992
carol : 10/17/1991

* 160742

MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4


Alternative titles; symbols

MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN
MYOSIN, HEAVY CHAIN, IIb; MYHC2B; MYH2B
MYHC IIb
MHC IIb


HGNC Approved Gene Symbol: MYH4

Cytogenetic location: 17p13.1     Genomic coordinates (GRCh38): 17:10,443,263-10,469,559 (from NCBI)


TEXT

For background information on the myosin heavy chain genes, see MYH1 (160730).


Cloning and Expression

Edwards et al. (1985) isolated a cDNA clone complementary to the mRNA encoding human myosin heavy chain from a fetal skeletal muscle cDNA library.

By RT-PCR of human skeletal muscle RNA, Weiss et al. (1999) cloned full-length MHC IIb. All MHC proteins share approximately 100% conservation in the phosphate-binding loop, several helices forming the nucleotide-binding pocket, residues involved in actin binding, residues involved in the stereospecific hydrophobic rigor state interaction of actin with myosin, a cleft that divides the ATP- and actin-binding sites, and a converter domain, or fulcrum, containing 2 conserved cysteines.


Mapping

Edwards et al. (1985) used a 600-bp fragment of an MYH4 cDNA as a probe in Southern analysis of DNA from panels of rat/human and mouse/human somatic cell hybrids. All sequences detected by this probe mapped to 17pter-p11. Soussi-Yanicostas et al. (1993) presented evidence that at least 5 skeletal myosin heavy chain genes are clustered in a 320-kb genomic segment. Thus, the MYH4 gene would appear to be located on 17p13.1, the location of 4 other myosin heavy chain genes (MYH1; MYH2, 160740; MYH3, 160720; and MYH8, 160741). Furthermore, Soussi-Yanicostas et al. (1993) had evidence from analysis of YACs that the embryonic and fetal genes, on the one hand, and the adult fast myosin heavy chain genes, on the other hand, are contained within different genomic fragments; see 160730. They suggested that the genes encoding the 2 developmental forms are adjacent in the human genome and that temporal regulation of the myosin heavy chain genes may be related to their organization within the cluster.


REFERENCES

  1. Edwards, Y. H., Parkar, M., Povey, S., West, L. F., Parrington, J. M., Solomon, E. Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe. Ann. Hum. Genet. 49: 101-109, 1985. [PubMed: 3000272] [Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01681.x]

  2. Soussi-Yanicostas, N., Whalen, R. G., Petit, C. Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. Hum. Molec. Genet. 2: 563-569, 1993. [PubMed: 8518795] [Full Text: https://doi.org/10.1093/hmg/2.5.563]

  3. Weiss, A., Schiaffino, S., Leinwand, L. A. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. J. Molec. Biol. 290: 61-75, 1999. [PubMed: 10388558] [Full Text: https://doi.org/10.1006/jmbi.1999.2865]


Contributors:
Patricia A. Hartz - updated : 03/09/2006
Marla J. F. O'Neill - updated : 3/16/2004

Creation Date:
Victor A. McKusick : 10/17/1991

Edit History:
mgross : 03/09/2006
tkritzer : 3/16/2004
mgross : 2/12/2001
mgross : 2/12/2001
alopez : 4/30/1999
alopez : 4/30/1999
dkim : 7/2/1998
terry : 5/12/1994
carol : 10/21/1993
carol : 9/17/1993
supermim : 3/16/1992
carol : 10/17/1991