caa a22 4500 475745116 CHVBK 20180406123511.0 cr unu---uuuuu 170329e20000501xx s 000 0 eng 10.1023/A:1005635030494 doi (NATIONALLICENCE)springer-10.1023/A:1005635030494 Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-IIb-perinatal-extraocular [Elektronische Daten] [Joseph Shrager, Philippe Desjardins, James Burkman, Stephane Konig, Douglas Stewart, Leonard Su, Megha Shah, Evelyn Bricklin, Manu Tewari, Rebecca Hoffman, Michael Rickels, Eric Jullian, Neal Rubinstein, Hansell Stedman] 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. Kluwer Academic Publishers, 2000 Shrager Joseph Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Desjardins Philippe Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Burkman James Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Konig Stephane Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Stewart Douglas Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Su Leonard Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Shah Megha Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Bricklin Evelyn Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Tewari Manu Department of Cell and Developmental Biology, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Hoffman Rebecca Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Rickels Michael Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Jullian Eric Laboratoire d'Histologie-Embryologie, Faculte de Medecine Cochin Port Royale, Universite Rene Descartes, Paris, France aut Rubinstein Neal Department of Cell and Developmental Biology, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Stedman Hansell Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Journal of Muscle Research & Cell Motility Kluwer Academic Publishers 21/4(2000-05-01), 345-355 0142-4319 21:4<345 2000 21 10974 https://doi.org/10.1023/A:1005635030494 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1023/A:1005635030494 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Shrager Joseph Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Desjardins Philippe Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Burkman James Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Konig Stephane Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Stewart Douglas Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Su Leonard Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Shah Megha Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Bricklin Evelyn Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Tewari Manu Department of Cell and Developmental Biology, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Hoffman Rebecca Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Rickels Michael Department of Medicine, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Jullian Eric Laboratoire d'Histologie-Embryologie, Faculte de Medecine Cochin Port Royale, Universite Rene Descartes, Paris, France aut NATIONALLICENCE 700 1- Rubinstein Neal Department of Cell and Developmental Biology, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Stedman Hansell Department of Surgery, School of Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 773 0- Journal of Muscle Research & Cell Motility Kluwer Academic Publishers 21/4(2000-05-01), 345-355 0142-4319 21:4<345 2000 21 10974 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer