caa a22 4500 46906188X CHVBK 20180323132900.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF00352459 doi (NATIONALLICENCE)springer-10.1007/BF00352459 The α-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse Chromosome 11 [Elektronische Daten] [Christine Ambrose, Shirley Cheng, Bertrand Fontaine, Joseph Nadeau, Marcy MacDonald, James Gusella] Recent evidence suggests that the human neuromuscular disorders, hyperkalemic periodic paralysis and paramyotonia congenita, are both caused by genetic defects in the α-subunit of the adult skeletal muscle sodium channel, which maps near the growth hormone cluster (GH) on Chromosome (Chr) 17q. In view of the extensive homology between this human chromosome and mouse Chr 11, we typed an interspecies backcross to determine whether the murine homolog (Scn4a) of this sodium channel gene mapped within the conserved chromosomal segment. The cytosolic thymidine kinase gene, Tk-1, was also positioned on the genetic map of Chr 11. Both Scn4a and Tk-1 showed clear linkage to mouse Chr 11 loci previously typed in this backcross, yielding the map order: Tr J-(Re, Hox-2, Krt-1)-Scn4a-Tk-1. No mouse mutant that could be considered a model of either hyperkalemic periodic paralysis or paramyotonia congenita has been mapped to the appropriate region of mouse Chr 11. These data incorporate an additional locus into the already considerable degree of homology observed for these human and mouse chromosomes. These data are also consistent with the view that the conserved segment region may extend to the telomere on mouse Chr 11 and on human 17q. Springer-Verlag New York Inc, 1992 Ambrose Christine Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut Cheng Shirley Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut Fontaine Bertrand Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut Nadeau Joseph The Jackson Laboratory, 04609, Bar Harbor, Maine, USA aut MacDonald Marcy Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut Gusella James Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut Mammalian Genome Springer-Verlag 3/3(1992-03-01), 151-155 0938-8990 3:3<151 1992 3 335 https://doi.org/10.1007/BF00352459 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00352459 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ambrose Christine Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut NATIONALLICENCE 700 1- Cheng Shirley Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut NATIONALLICENCE 700 1- Fontaine Bertrand Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut NATIONALLICENCE 700 1- Nadeau Joseph The Jackson Laboratory, 04609, Bar Harbor, Maine, USA aut NATIONALLICENCE 700 1- MacDonald Marcy Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut NATIONALLICENCE 700 1- Gusella James Molecular Neurogenetics Laboratory, Massachusetts General Hospital, MGH East, Building 149, 13th Street, 02129, Charlestown, Massachusetts, USA aut NATIONALLICENCE 773 0- Mammalian Genome Springer-Verlag 3/3(1992-03-01), 151-155 0938-8990 3:3<151 1992 3 335 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer