Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus

Helen G. Harley, J. David Brook, Cynthia L. Jackson, Thomas M Glaser, Kathryn V. Walsh, Mansoor Sarfarazi, Rachel Kent, Marie Lager, Manuela Koch, Peter S. Harper, Robert Levenson, David E. Housman, Duncan J. Shaw

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

The gene coding for a Na+,K+-ATPase α subunit (ATP1A3) has been localized to the q12åq13.2 region of human chromosome 19, potentially close to the myotonic dystrophy (DM) gene. In view of previous studies implicating a Na+,K+-ATPase in the pathology of DM, we have examined the possibility that ATP1A3 is a candidate for the DM locus. Although linked, several clear instances of recombination between ATP1A3 and DM rule out the possibility that mutations in ATP1A3 cause the disease. Examination of multiply informative pedigrees indicates the gene order DM-APOC2-ATP1A3.

Original languageEnglish (US)
Pages (from-to)380-384
Number of pages5
JournalGenomics
Volume3
Issue number4
DOIs
StatePublished - 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Harley, H. G., David Brook, J., Jackson, C. L., Glaser, T. M., Walsh, K. V., Sarfarazi, M., Kent, R., Lager, M., Koch, M., Harper, P. S., Levenson, R., Housman, D. E., & Shaw, D. J. (1988). Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus. Genomics, 3(4), 380-384. https://doi.org/10.1016/0888-7543(88)90131-0