Literature DB >> 2907504

Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus.

H G Harley1, J D Brook, C L Jackson, T Glaser, K V Walsh, M Sarfarazi, R Kent, M Lager, M Koch, P S Harper.   

Abstract

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.

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Year:  1988        PMID: 2907504     DOI: 10.1016/0888-7543(88)90131-0

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  13 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  A dinucleotide repeat polymorphism in the human Na+,K+ ATPase, alpha subunit (ATP1A3) gene.

Authors:  A Kazantsev; L H Yamaoka; A D Roses
Journal:  Nucleic Acids Res       Date:  1992-03-11       Impact factor: 16.971

3.  The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

Authors:  J D Brook; S J Knight; S H Roberts; H G Harley; K V Walsh; S A Rundle; K Freyne; M C Koch; N D Epstein; B Wieringa
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

4.  Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.

Authors:  H G Harley; K V Walsh; S Rundle; J D Brook; M Sarfarazi; M C Koch; J L Floyd; P S Harper; D J Shaw
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

5.  An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.

Authors:  C Hayward; J Livingstone; S Holloway; W A Liston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

Review 6.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

7.  Long-range restriction map of a region of human chromosome 19 containing the apolipoprotein genes, a CLL-associated translocation breakpoint, and two polymorphic MluI sites.

Authors:  D J Shaw; H G Harley; J D Brook; T W McKeithan
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

8.  Structure and regulation of human troponin genes.

Authors:  Martin E Cullen; Kimberley A Dellow; Paul J R Barton
Journal:  Mol Cell Biochem       Date:  2004-08       Impact factor: 3.396

9.  Identification of new DNA markers close to the myotonic dystrophy locus.

Authors:  J D Brook; H G Harley; K V Walsh; S A Rundle; M J Siciliano; P S Harper; D J Shaw
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

10.  Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Authors:  H G Harley; J D Brook; J Floyd; S A Rundle; S Crow; K V Walsh; M C Thibault; P S Harper; D J Shaw
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

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