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 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 Citations (Scopus)

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 - Nov 1988

Fingerprint

Myotonic Dystrophy
Chromosomes
Chromosomes, Human, Pair 19
Gene Order
Human Chromosomes
Pedigree
Genetic Recombination
Genes
Pathology
Mutation
sodium-translocating ATPase

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Harley, H. G., David Brook, J., Jackson, C. L., Glaser, T., Walsh, K. V., Sarfarazi, M., ... 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
Harley, Helen G. ; David Brook, J. ; Jackson, Cynthia L. ; Glaser, Thomas ; Walsh, Kathryn V. ; Sarfarazi, Mansoor ; Kent, Rachel ; Lager, Marie ; Koch, Manuela ; Harper, Peter S. ; Levenson, Robert ; Housman, David E. ; Shaw, Duncan J. / Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus. In: Genomics. 1988 ; Vol. 3, No. 4. pp. 380-384.
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abstract = "The gene coding for a Na+,K+-ATPase α subunit (ATP1A3) has been localized to the q12{\aa}q13.2 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.",
author = "Harley, {Helen G.} and {David Brook}, J. and Jackson, {Cynthia L.} and Thomas Glaser and Walsh, {Kathryn V.} and Mansoor Sarfarazi and Rachel Kent and Marie Lager and Manuela Koch and Harper, {Peter S.} and Robert Levenson and Housman, {David E.} and Shaw, {Duncan J.}",
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Harley, HG, David Brook, J, Jackson, CL, Glaser, T, Walsh, KV, Sarfarazi, M, Kent, R, Lager, M, Koch, M, Harper, PS, Levenson, R, Housman, DE & Shaw, DJ 1988, 'Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus', Genomics, vol. 3, no. 4, pp. 380-384. https://doi.org/10.1016/0888-7543(88)90131-0

Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus. / Harley, Helen G.; David Brook, J.; Jackson, Cynthia L.; Glaser, Thomas; Walsh, Kathryn V.; Sarfarazi, Mansoor; Kent, Rachel; Lager, Marie; Koch, Manuela; Harper, Peter S.; Levenson, Robert; Housman, David E.; Shaw, Duncan J.

In: Genomics, Vol. 3, No. 4, 11.1988, p. 380-384.

Research output: Contribution to journalArticle

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AU - Harley, Helen G.

AU - David Brook, J.

AU - Jackson, Cynthia L.

AU - Glaser, Thomas

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AU - Sarfarazi, Mansoor

AU - Kent, Rachel

AU - Lager, Marie

AU - Koch, Manuela

AU - Harper, Peter S.

AU - Levenson, Robert

AU - Housman, David E.

AU - Shaw, Duncan J.

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