Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients

Journal of Medical Genetics

Volumn 35, Issue 2, 1998, Pages 137-140

  Verlingue, Claudine ^a   Vuillaumier, Sandrine ^a   Mercier, Bernard ^a   Gac, Gerald Le ^b   Elion, Jacques ^b   Férec, Claude ^a   Denamur, Erick ^a  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

CFTR mutations; CFTR promoter; Phylogenetic footprints

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; APE; ARTICLE; BRONCHIECTASIS; CONSENSUS SEQUENCE; COW; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA FLANKING REGION; DNA POLYMORPHISM; EXON; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MONKEY; MOUSE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RABBIT; RAT; RHESUS MONKEY; SEQUENCE HOMOLOGY; SQUIRREL; VAS DEFERENS;

ALOCASIA MACRORRHIZOS; HYLOBATES SP.; MACACA MULATTA; MAMMALIA; ORYCTOLAGUS CUNICULUS; SAIMIRI; SCIURIDAE;

EID: 0031961047     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.2.137     Document Type: Article

References (22)

1. Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill, 1995:3799-876.
2. The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutât 1994;4:167-77.
3. Zielenski J, Tsui LC. Cystic fibrosis : genotypic and phenotypic variations. Anna Rev Genet 1995;29:777-807.
4. Messaoud T, Verlingue C, Denamur E, et al. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996;4:20-4.
5. Chilien M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. NEnglJMed 1995;332:1475-80.
6. Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 1994;4:635-40.
7. Crossley M, Orkin SH. Regulation of the -globin locus. Curr Opin Genet Dev 1993;3:232-7.
8. Yoshimura K, Nakamura H, Trapnell BC, et al. The cystic fibrosis gene has a "housekeeping"-type promoter and is expressed at low levels in cells of epithelial origin, jf Biol Chem 1991;266:9l40-4.
9. Chou JL, Rozmahcl R, Tsui LC. Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem 1991;266:24471 -6.
10. Koh J, Sferra TJ, Collins FS. Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. J Biol Chem 1993;268:15912-21.
11. Denamur E, Chehab FF. Analysis of the mouse and rat promoter regions. Hum Mol Genet 1994;3:1089-94.
12. Vuillaumier S, Dixmeras I, Messaî H, et al. Cross-species characterisation of the CFTR promoter region reveals multiple levels of regulation. BiochemJ (in press).
13. Smith AN, Earth ML, McDowell TL, et al. A regulatory element in intron 1 of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem 1996;271:994754.
14. Matthews RP, McKnight GS. Characterization of the cAMP response element of the cystic fibrosis transmembrane conductance regulator gene promoter. J Biol Chem 1996;271: 31869-77.
15. Vuillaumier S, Kaltenboeck B, Lecointre G, Lehn P, Denamur E. Phylogenetic analysis of cystic fibrosis transmembrane conductance regulator in mammalian species argues for the development of a rabbit model for cystic fibrosis. MolBiolEvol 1997;14:372-80.
16. Gumucio DL, Heilstedt-Williamson H, Gray TA, et al. Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human y and E globin genes. Mol Ce! Biol 1992;12:4919-29.
17. Higgins DG, Sharp PM. Clustal: a package for performing multiple sequence alignments on a microcomputer. Gene 1988;73:237-44.
18. Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:482-501.
19. Myers RM, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:501-27
20. Bienvenu T, Lacronique V, Raymondjean M, et al. Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembranc conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect. Hum Genet 1995;95:698-702.
21. Férec C, Audrézet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1:188-91.
22. Macek M Jr, Mercier B, Mackova A, et al. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutât 1997;9:136-47.