Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-ILb-perinatal-extraocular

Myosin heavy chain (MyHC) is the major contractile protein of muscle. We report the first complete cosmid cloning and definitive physical map of the tandemly linked human skeletal MyHC genes at 17p13.1. The map provides new information on the order, size, and relative spacing of the genes. and it re...

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Bibliographic Details
Published in:Journal of muscle research and cell motility 2000-05, Vol.21 (4), p.345-355
Main Authors: Shrager, J B, Desjardins, P R, Burkman, J M, Konig, S K, Stewart, S K, Su, L, Shah, M C, Bricklin, E, Tewari, M, Hoffman, R, Rickels, M R, Jullian, E H, Rubinstein, N A, Stedman, H H
Format: Article
Language:English
Subjects:
3' Untranslated Regions
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Cloning, Molecular
Cosmids
Exons
Humans
Molecular Sequence Data
Muscle Development
Muscle, Skeletal - embryology
Muscle, Skeletal - growth & development
Muscular Diseases - genetics
Myosin Heavy Chains - genetics
Oculomotor Muscles - embryology
Oculomotor Muscles - growth & development
Protein Isoforms - genetics
Sarcomeres - chemistry
Sequence Alignment
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Summary:Myosin heavy chain (MyHC) is the major contractile protein of muscle. We report the first complete cosmid cloning and definitive physical map of the tandemly linked human skeletal MyHC genes at 17p13.1. The map provides new information on the order, size, and relative spacing of the genes. and it resolves uncertainties about the two fastest twitch isoforms. The physical order of the genes is demonstrated to contrast with the temporal order of their developmental expression. Furthermore, nucleotide sequence comparisons allow an approximation of the relative timing of five ancestral duplications that created distinct genes for the six isoforms. A firm foundation is provided for molecular analysis in patients with suspected primary skeletal myosinopathies and for detailed modelling of the hypervariable surface loops which dictate myosin's kinetic properties.
ISSN:0142-4319