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

doi: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

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 journal › Article › peer-review

27 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 language	English (US)
Pages (from-to)	380-384
Number of pages	5
Journal	Genomics
Volume	3
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(88)90131-0
State	Published - Nov 1988

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

Genetics

Access to Document

10.1016/0888-7543(88)90131-0

Cite this

Harley, H. G., David Brook, J., Jackson, C. L., Glaser, T., 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

@article{fe73924317aa4629988a31e0fbb23311,

title = "Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12{\aa}q13.2 and linkage to the myotonic dystrophy locus",

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.\}",

note = "Funding Information: We thank Drs. F. E. Baralle and S. E. Humphries for APOC2 probes, Dr. E. A. Shephard for the CYPPA probe, and Drs. S. M. Huson and P. Lunt for help with family sampling. This work was supported by the Wolfson Foundation (UK), the Muscular Dystrophy Group of Great Britain, the Medical Research Council (UK), and Grant C4-26712 to the MIT Center for Cancer Research from the National Cancer Institute (R. Hynes, Principal Investigator). C.L.J. was supported by Public Health Service Grant GM10440 from the National Institute of General Medical Science and a fellowship awarded by the Charles A. King Trust Foundation.",

year = "1988",

month = nov,

doi = "10.1016/0888-7543(88)90131-0",

language = "English (US)",

volume = "3",

pages = "380--384",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

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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

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AU - Harley, Helen G.

AU - David Brook, J.

AU - Jackson, Cynthia L.

AU - Glaser, Thomas

AU - Walsh, Kathryn V.

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.

N1 - Funding Information: We thank Drs. F. E. Baralle and S. E. Humphries for APOC2 probes, Dr. E. A. Shephard for the CYPPA probe, and Drs. S. M. Huson and P. Lunt for help with family sampling. This work was supported by the Wolfson Foundation (UK), the Muscular Dystrophy Group of Great Britain, the Medical Research Council (UK), and Grant C4-26712 to the MIT Center for Cancer Research from the National Cancer Institute (R. Hynes, Principal Investigator). C.L.J. was supported by Public Health Service Grant GM10440 from the National Institute of General Medical Science and a fellowship awarded by the Charles A. King Trust Foundation.

PY - 1988/11

Y1 - 1988/11

N2 - 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.

AB - 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.

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