Faculty Research 1990 - 1999

Title

The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.

Document Type

Article

Publication Date

1992

Keywords

Base-Sequence, Chromosome-Mapping, Crosses-Genetic, DNA-Probes, Female, Linkage-(Genetics), Male, Mice, Mice-Inbred-C57BL, Molecular-Sequence-Data, Muscles: en, Recombination-Genetic, Restriction-Fragment-Length-Polymorphisms, Sodium-Channels: ge, SUPPORT-U-S-GOVT-P-H-S, Thymidine-Kinase: ge, me

JAX Source

Mamm Genome 1992;3(3):151-5

Grant

NS22224/NS/NINDS, HG00169/HG/NCHGR, HG00189/HG/NCHGR

Abstract

Recent evidence suggests that the human neuromuscular disorders, hyperkalemic periodic paralysis and paramyotonia congenita, are both caused by genetic defects in the alpha-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: TrJ-(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.

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