Literature DB >> 1352160

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

C Ambrose1, S Cheng, B Fontaine, J H Nadeau, M MacDonald, J F Gusella.   

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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Year:  1992        PMID: 1352160     DOI: 10.1007/bf00352459

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  44 in total

1.  Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.

Authors:  J A Han; C M Lu; G B Brown; T A Rado
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-15       Impact factor: 11.205

2.  Primary structure and functional expression of a mammalian skeletal muscle sodium channel.

Authors:  J S Trimmer; S S Cooperman; S A Tomiko; J Y Zhou; S M Crean; M B Boyle; R G Kallen; Z H Sheng; R L Barchi; F J Sigworth
Journal:  Neuron       Date:  1989-07       Impact factor: 17.173

3.  Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.

Authors:  M Litt; J Luty; M Kwak; L Allen; R E Magenis; G Mandel
Journal:  Genomics       Date:  1989-08       Impact factor: 5.736

4.  Fitness of heterozygotes of deleterious recessive mutations in the mouse.

Authors:  E L Green
Journal:  Mutat Res       Date:  1971-07       Impact factor: 2.433

5.  Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.

Authors:  D Malo; E Schurr; J Dorfman; V Canfield; R Levenson; P Gros
Journal:  Genomics       Date:  1991-07       Impact factor: 5.736

6.  Recombination between the t6 complex and linked loci in the house mouse.

Authors:  J H Nadeau; S J Phillips; I K Egorov
Journal:  Genet Res       Date:  1985-06       Impact factor: 1.588

7.  Shambling, a neurological mutant of the mouse.

Authors:  E L Green
Journal:  J Hered       Date:  1967 Mar-Apr       Impact factor: 2.645

8.  Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Authors:  L J Ptacek; J S Trimmer; W S Agnew; J W Roberts; J H Petajan; M Leppert
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

9.  Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH.

Authors:  F Lehmann-Horn; G Küther; K Ricker; P Grafe; K Ballanyi; R Rüdel
Journal:  Muscle Nerve       Date:  1987-05       Impact factor: 3.217

10.  Zinc finger protein gene complexes on mouse chromosomes 8 and 11.

Authors:  J H Nadeau; C S Birkenmeier; K Chowdhury; J L Crosby; P A Lalley
Journal:  Genomics       Date:  1990-11       Impact factor: 5.736

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  2 in total

Review 1.  Structure, function and expression of voltage-dependent sodium channels.

Authors:  R G Kallen; S A Cohen; R L Barchi
Journal:  Mol Neurobiol       Date:  1993 Fall-Winter       Impact factor: 5.590

Review 2.  Mouse homologues of human hereditary disease.

Authors:  A G Searle; J H Edwards; J G Hall
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

  2 in total

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