DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding

Human Genetics

Volumn 111, Issue 1, 2002, Pages 66-74

  Rowntree, Rebecca ^a   Harris, Ann ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEASE I; DNA; PROTEIN; TRANSCRIPTION FACTOR; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; DNA POLYMORPHISM; GEL MOBILITY SHIFT ASSAY; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC REGULATION; HUMAN; IN VIVO STUDY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; STATISTICAL SIGNIFICANCE; TISSUE SPECIFICITY;

BASE SEQUENCE; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; BINDING SITES; BINDING, COMPETITIVE; CASE-CONTROL STUDIES; CELLS, CULTURED; COUP TRANSCRIPTION FACTORS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DEOXYRIBONUCLEASE I; DNA FOOTPRINTING; DNA PRIMERS; DNA-BINDING PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENE EXPRESSION REGULATION; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDES; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); PROTEIN BINDING; RECEPTORS, STEROID; REGULATORY SEQUENCES, NUCLEIC ACID; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0036664805     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0737-z     Document Type: Article

References (29)

1. Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C (1995) Three novel sequence variations in the 5′ upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: Two polymorphisms and one putative molecular defect. Hum Genet 95:698-702
2. Chu CS, Trapnell BC, Murtagh JJ Jr, Moss J, Dalemans W, Jallat S, Mercenier A, Pavirani A, Lecocq JP, Cutting GR, Guggion WB, Crystal RG (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 10:1355-1363
3. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis conductance regulator mRNA. Nat Genet 3:151-156
4. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 101:487-496
5. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
6. Drewes T, Senkel S, Holewa B, Ryffel GU (1996) Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes. Mol Cell Biol 16:925-931
7. Fogh J, Trempe G (1975) New human tumour cell lines. In: Fogh J (ed) Human Tumour Cell Lines in Vivo. Plenum Press, New York
8. Fogh J, Wright WC, Loveless JD (1977) Absence of HeLa cell contamination in 169 cell lines derived from human tumors. J Natl Cancer Inst 58:209-214
9. Huet C, Sahuquillo-Merino C, Coudrier E, Louvard D (1987) Absorptive and mucus-secreting subclones isolated from a multipotent intestinal cell line (HT-29) provide new models for cell polarity and terminal differentiation. J Cell Biol 105:345-357
10. Ladias JA, Karathanasis SK (1991) Regulation of the apolipoprotein AI gene by ARP-1, a novel member of the steroid receptor superfamily. Science 251:561-565
11. Matthews RP, McKnight GS (1996) Characterization of the cAMP response element of cystic fibrosis transmembrane conductance regulator gene promoter. J Biol Chem 271:31869-31877
12. McDonald RA, Matthews RP, Idzerda RL, McKnight GS (1995) Basal expression of the cystic fibrosis transmembrane conductance regulator gene is dependent on protein kinase A activity. Proc Natl Acad Sci USA 92:7560-7564
13. Mietus-Snyder M, Sladek FM, Ginsburg GS, Kuo CF, Ladias JA, Darnell JE Jr, Karathanasis SK (1992) Antagonism between apolipoprotein AI regulatory protein 1, Ear3/COUP-TF, and hepatocyte nuclear factor 4 modulates apolipoprotein CIII gene expression in liver and intestinal cells. Mol Cell Biol 12:1708-1718
14. Muscat GE, Rea S, Downes M (1995) Identification of a regulatory function for an orphan receptor in muscle: COUP-TF II affects the expression of the myoD gene family during myogenesis. Nucleic Acids Res 23: 1311-1318
15. Nuthall HN, Moulin DS, Huxley C and Harris A (1999a) Analysis of DNase-I-hypersensitive sites at the 3′ end of the cystic fibrosis transmembrane conductance regulator gene (CFTR). Biochem J 341:601-611
16. Nuthall HN, Vassaux G, Huxley C, Harris A (1999b) Analysis of a DNase I hypersensitive site located -20.9 kb upstream of the CFTR gene. Eur J Biochem 266:431-443
17. Pipaon C, Tsai SY, Tsai MJ (1999) COUP-TF upregulates NGF1-A gene expression through an Sp1 binding site. Mol Cell Biol 19:2734-2745
18. Pittman N, Shue G, LeLeiko NS, Walsh MJ (1995) Transcription of cystic fibrosis transmembrane conductance regulator requires a CCAAT-like element for both basal and cAMP-mediated regulation. J Biol Chem 270:28848-28857
19. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
20. Romey MC, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, Claustres M (2000) A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. J Biol Chem 275:3561-3567
21. Rottman JN, Gordon JI (1993) Comparison of the patterns of expression of rat intestinal fatty acid binding protein/human growth hormone fusion genes in cultured intestinal epithelial cell lines and in the gut epithelium of transgenic mice. J Biol Chem 268:1994-2002
22. Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A (1994) Identification of rare and novel mutations in the CFTR genes of CF patients in southern England. Hum Mutat 3:141-151
23. Sladek FM, Zhong WM, Lai E, Darnell JF Jr (1990) Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily. Genet Dev 4:2353-2365
24. Smith AN, Wardle CJ, Harris A (1995) Characterization of DNase I hypersensitive sites in the 120 kb 5′ to the CFTR gene. Biochem Biophys Res Commun 211:274-281
25. Smith AN, Barth ML, McDowell TL, Moulin DS, Nuthall HN, Hollingsworth MA, Harris A (1996) A regulatory element in intron 1 of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem 271:9947-9954
26. Smith D, Nuthall HN, Majetti ME and Harris A (2000) Multiple potential intragenic regulatory elements in the CFTR gene. Genomics 64:90-96
27. Teng H, Jorissen M, Van Poppel H, Legius E, Cassiman JJ and Cuppens H (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 6:85-90
28. Trapnell BC, Zeitlin PL, Chu CS, Yoshimura K, Nakamura H, Guggino WB, Bargon, J., Banks TC, Dalemans W, Pavirani A, et al. (1991) Down-regulation of cystic fibrosis gene mRNA transcript levels and induction of the cystic fibrosis chloride secretory phenotype in epithelial cells by phorbol ester. J Biol Chem 266:10319-10323
29. Yoshimura K, Nakamura H, Trapnell BC, Dalemans W, Pavirani A, Lecocq JP, Crystal RG (1991) The cystic fibrosis gene has a "housekeeping"-type promoter and is expressed at low levels in cells of epithelial origin. J Biol Chem 266:9140-9144