Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus.
The gene coding for a Na+,K+-ATPase alpha subunit (ATP1A3) has been localized to the q12----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.
Harley
H G
HG
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
Brook
J D
JD
Jackson
C L
CL
Glaser
T
T
Walsh
K V
KV
Sarfarazi
M
M
Kent
R
R
Lager
M
M
Koch
M
M
Harper
P S
PS
D000818:Animals; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D015342:DNA Probes; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells / Q000166:cytology; D046911:Macromolecular Substances; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
D015342:DNA Probes; D046911:Macromolecular Substances; C024408:endodeoxyribonuclease SacI; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; D000254:Sodium-Potassium-Exchanging ATPase