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 | |
| State | Published - Nov 1988 |
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All Science Journal Classification (ASJC) codes
- Genetics
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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 journal › Article
TY - JOUR
T1 - Localization of a human Na+, K+-ATPase α subunit gene to chromosome 19q12åq13.2 and linkage to the myotonic dystrophy locus
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.
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.
UR - http://www.scopus.com/inward/record.url?scp=0024117746&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024117746&partnerID=8YFLogxK
U2 - 10.1016/0888-7543(88)90131-0
DO - 10.1016/0888-7543(88)90131-0
M3 - Article
C2 - 2907504
AN - SCOPUS:0024117746
VL - 3
SP - 380
EP - 384
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 4
ER -