Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis
- PMID: 2885258
- DOI: 10.1007/BF00283623
Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis
Abstract
Recent physiological studies have shown a defective beta-adrenergic regulation of chloride transport and protein secretion in tissues affected by cystic fibrosis. The exact biochemical nature of this abnormality is unknown, but an intracellular second messenger may be involved. We have tested the hypothesis that calmodulin is the site of the basic defect in CF using biochemical and molecular genetic techniques. We report here that there is no gross structural abnormality in the calmodulin protein from CF submandibular glands, and that although there are at least three distinct sequences that cross-hybridise with a calmodulin cDNA probe in the human genome, none of these can be the locus of CF. A polymorphism at the locus of a calmodulin cross-hybridising sequence at human chromosome 7p2 is described.
Similar articles
-
An altered phosphoprotein in cystic fibrosis.Acta Univ Carol Med (Praha). 1990;36(1-4):46-8. Acta Univ Carol Med (Praha). 1990. PMID: 1966659
-
Defective regulation of apical membrane chloride transport and exocytosis in cystic fibrosis.Biosci Rep. 1988 Feb;8(1):27-33. doi: 10.1007/BF01128969. Biosci Rep. 1988. PMID: 2456106 Review.
-
An altered calmodulin binding protein in cystic fibrosis--a clue to the biochemical defect.Clin Chim Acta. 1988 Jun 15;174(3):283-9. doi: 10.1016/0009-8981(88)90054-x. Clin Chim Acta. 1988. PMID: 2839311
-
Decreased beta-adrenergic stimulation of glycoprotein secretion in CF mice submandibular glands: reversal by the methylxanthine, IBMX.Biochem Biophys Res Commun. 1995 Oct 13;215(2):674-81. doi: 10.1006/bbrc.1995.2517. Biochem Biophys Res Commun. 1995. PMID: 7488008
-
The application of molecular genetics to the study of the basic defect causing cystic fibrosis.Prog Clin Biol Res. 1987;254:181-90. Prog Clin Biol Res. 1987. PMID: 2893385 Review.
Cited by
-
Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis.Am J Hum Genet. 1987 Nov;41(5):925-32. Am J Hum Genet. 1987. PMID: 3479018 Free PMC article.
-
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.J Inherit Metab Dis. 1990;13(4):435-41. doi: 10.1007/BF01799500. J Inherit Metab Dis. 1990. PMID: 2122110 Review.
-
Recent advances in cystic fibrosis.J Inherit Metab Dis. 1988;11 Suppl 1:94-109. doi: 10.1007/BF01800575. J Inherit Metab Dis. 1988. PMID: 3141691 Review.
-
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.Am J Hum Genet. 1989 Aug;45(2):276-82. Am J Hum Genet. 1989. PMID: 2757032 Free PMC article.
-
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).Am J Hum Genet. 1997 Sep;61(3):539-46. doi: 10.1086/515502. Am J Hum Genet. 1997. PMID: 9326319 Free PMC article.