The cystic fibrosis gene: A molecular genetic perspective

Cold Spring Harbor Perspectives in Medicine

Volumn 3, Issue 2, 2013, Pages

  Tsui, Lap Chee ^a   Dorfman, Ruslan ^b  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b Geneyouin Inc   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84874754544     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a009472     Document Type: Article

References (106)

1. Allen FH Jr, Dooley RR, Shwachman H, Steinberg AG. 1956. Linkage studies with cystic fibrosis of the pancreas. Am J Hum Genet 8: 162-176.
2. Andersen D.H., Hodges RG. 1946. Celiac syndrome; genetics of cystic fibrosis of the pancreas, with a consideration of etiology. Am J Dis Child 72: 62-80.
3. Azad A.K., Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B., Bassinet L, Fichou Y, des Georges M, Stanke F, et al. 2009. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat 30: 1093-1103.
4. Aznarez I., Chan EM, Zielenski J, Blencowe BJ, Tsui LC. 2003. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. HumMol Genet 12: 2031-2040.
5. Aznarez I., Barash Y, Shai O, He D, Zielenski J, Tsui LC, Parkinson J., Frey BJ, Rommens JM, Blencowe BJ. 2008. A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. Genome Res 18: 1247-1258.
6. Bartoszewski R.A., Jablonsky M, Bartoszewska S, Stevenson L, Dai Q., Kappes J, Collawn JF, Bebok Z. 2010. A synonymous single nucleotide polymorphism in DF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein. J Biol Chem 285: 28741-28748.
7. Beaudet A.L., Tsui LC. 1993. A suggested nomenclature for designating mutations. Hum Mutat 2: 245-248.
8. Birney E., Stamatoyannopoulos JA, Dutta A, Guigo R, Gingeras T.R., Margulies EH, Weng Z, Snyder M, Dermitzakis E.T., Thurman RE, et al. 2007. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799-816.
9. Blackledge N.P., Carter EJ, Evans JR, Lawson V, Rowntree RK, Harris A. 2007. CTCF mediates insulator function at the CFTR locus. Biochem J 408: 267-275.
10. Blackledge N.P., Ott CJ, Gillen AE, Harris A. 2009. An insulator element 3′ to the CFTR gene binds CTCFand reveals an active chromatin hub in primary cells. Nucleic Acids Res 37: 1086-1094.
11. Botstein D., Risch N. 2003. Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33: 228-237.
12. Botstein D., White RL, Skolnick M, Davis RW. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32: 314-331.
13. Buratti E., Baralle FE. 2001. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTRexon 9. J Biol Chem 276: 36337-36343.
14. Cardon L.R., Abecasis GR. 2003. Using haplotype blocks to map human complex trait loci. Trends Genet 19: 135-140.
15. Chen R., Davydov EV, Sirota M, Butte AJ. 2010. Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PLoS ONE 5: e13574.
16. Chu C.S., Trapnell BC, Murtagh JJ Jr, Moss J, Dalemans W, Jallat S., Mercenier A, Pavirani A, Lecocq JP, Cutting GR, et al. 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.
17. Chu C.S., Trapnell BC, Curristin S, Cutting GR, Crystal RG. 1993. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3: 151-156.
18. Collins FS. 1990. Identifying human disease genes by positional cloning. Harvey Lect 86: 149-164.
19. Collins FS. 1992. Positional cloning: Let's not call it reverse anymore. Nat Genet 1: 3-6.
20. Collins F.S., Drumm ML, Cole JL, Lockwood WK, Vande Woude G.F., Iannuzzi MC. 1987. Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science 235: 1046-1049.
21. Cox T.K., Kerem B, Rommens J, Iannuzzi MC, Drumm M, Collins F.S., Dean M, Tsui L-C, Chakravarti A. 1989. Mapping of the cystic fibrosis gene using putative ancestral recombinants. Am J Hum Genet 45: A136.
22. Cutting G.R., Antonarakis SE, Buetow KH, Kasch LM, Rosenstein B.J., Kazazian HH Jr. 1989. Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet 44: 307-318.
23. Cutting G.R., Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis S.E., Kazazian HH Jr. 1990. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346: 366-369.
24. Davidson D.J., Rolfe M. 2001. Mouse models of cystic fibrosis. Trends Genet 17: S29-S37.
25. Deeley R.G., Westlake C, Cole SP. 2006. Transmembrane transport of endo-and xenobiotics by mammalian ATPbinding cassette multidrug resistance proteins. Physiol Rev 86: 849-899.
26. Donaldson S.H., Boucher RC. 2007. Sodium channels and cystic fibrosis. Chest 132: 1631-1636.
27. DrummML, Pope HA, CliffWH, Rommens JM, Marvin SA, Tsui L.C., Collins FS, Frizzell RA, Wilson JM. 1990. Correction of the cystic fibrosis defect in vitro by retrovirusmediated gene transfer. Cell 62: 1227-1233.
28. Drumm M.L., Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell R.A., Dawson DC, Collins FS. 1991. Chloride conductance expressed byDF508 and other mutant CFTRs in Xenopus oocytes. Science 254: 1797-1799.
29. Eiberg H., Mohr J, SchmiegelowK, Nielsen LS, Williamson R. 1985. Linkage relationships of paraoxonase (PON) with other markers: Indication of PON-cystic fibrosis synteny. Clin Genet 28: 265-271.
30. El-Seedy A, Dudognon T, Bilan F, Pasquet MC, Reboul MP, Iron A., Kitzis A, Ladeveze V. 2009. Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations. J Mol Diagn 11: 488-493.
31. ENCODE Project Consortium. 2004. The ENCODE (ENCyclopedia Of DNA Elements.) Project. Science 306: 636-640.
32. Estivill X., Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench N.J., Bates GP, Kruyer HC, Frederick PA, Stanier P, et al. 1987. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326: 840-845.
33. FaaV, Coiana A, Incani F, Costantino L, Cao A, Rosatelli MC. 2010. A synonymous mutation in the CFTR gene causes aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis. J Mol Diagn 12: 380-383.
34. Fajac I., Viel M, Gaitch N, Hubert D, Bienvenu T. 2009. Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease. Eur Respir J 34: 772-773.
35. Flint J., Valdar W, Shifman S, Mott R. 2005. Strategies for mapping and cloning quantitative trait genes in rodents. Nat Rev Genet 6: 271-286.
36. Gervais R., Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M., Demaille J. 1993. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med 328: 446-447.
37. Giardine B., Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J., Sang Y, Elnitski L, Cutting G, Trumbower H, et al. 2007. PhenCode: Connecting ENCODE data with mutations and phenotype. Hum Mutat 28: 554-562.
38. Gregory R.J., Cheng SH, Rich DP, Marshall J, Paul S, Hehir K, Ostedgaard L., Klinger KW, Welsh MJ, Smith AE. 1990. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 347: 382-386.
39. Guilbault C., Saeed Z, Downey GP, Radzioch D. 2007. Cystic fibrosis mouse models. AmJ Respir Cell Mol Biol 36: 1-7.
40. Haston C.K., Tsui LC. 2003. Loci of intestinal distress in cystic fibrosis knockout mice. Physiol Genomics 12: 79-84.
41. Haston C.K., Corey M, Tsui LC. 2002a. Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice. Mamm Genome 13: 614-618.
42. Haston C.K., McKerlie C, Newbigging S, Corey M, Rozmahel R, Tsui LC. 2002b. Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice. Mamm Genome 13: 605-613.
43. Hinzpeter A., Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelievre A, et al. 2010. Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. PLoS Genet 6: e1001153.
44. Hull J., Shackleton S, Harris A. 1994. The stop mutation R553X in the CFTR gene results in exon skipping. Genomics 19: 362-364.
45. Hunt J.F., Wang C, Ford RC. 2013. Cystic fibrosis transmembrane conductance regulator (ABCC7) structure. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect. a009514.
46. Hwang T-C, Kirk KL. 2013. The CFTR ion channel: Gating, regulation, and anion permeation. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a009498.
47. Kerem B., Rommens JM, Buchanan JA, Markiewicz D, Cox T.K., Chakravarti A, Buchwald M, Tsui LC. 1989a. Identification of the cystic fibrosis gene: Genetic analysis. Science 245: 1073-1080.
48. Kerem B.S., Buchanan JA, Durie P, Corey ML, Levison H, Rommens J.M., Buchwald M, Tsui LC. 1989b. DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am J Hum Genet 44: 827-834.
49. Knowlton R.G., Cohen-Haguenauer O, Van Cong N, Frezal J, Brown V.A., Barker D, Braman JC, Schumm JW, Tsui LC, Buchwald M., et al. 1985. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 318: 380-382.
50. Koehler D.R., Hannam V, Belcastro R, Steer B, Wen Y, Post M, Downey G., Tanswell AK, Hu J. 2001. Targeting transgene expression for cystic fibrosis gene therapy. Mol Ther 4: 58-65.
51. Kruglyak L. 1997. What is significant in whole-genome linkage disequilibrium studies? Am J Hum Genet 61: 810-812.
52. Kruglyak L. 2005. Power tools for human genetics. Net Genet 37: 1299-1300.
53. Kruglyak L. 2008. The road to genome-wide association studies. Nat Rev Genet 9: 314-318.
54. Lewandowska M.A., Costa FF, Bischof JM, Williams SH, Soares M.B., Harris A. 2010. Multiple mechanisms influence regulation of the cystic fibrosis transmembrane conductance regulator gene promoter. Am J Respir Cell Mol Biol 43: 334-341.
55. Li Y., Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T., et al. 2010. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42: 969-972.
56. Liu X., Jiang Q, Mansfield SG, Puttaraju M, Zhang Y, Zhou W, Cohn JA, Garcia-Blanco MA, Mitchell LG, Engelhardt JF. 2002. Partial correction of endogenous DF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat Biotechnol 20: 47-52.
57. Liu X., Li X, Li M, Acimovic YJ, Li Z, Scherer SW, Estivill X, Tsui LC. 2004. Characterization of the segmental duplication LCR7-20 in the human genome. Genomics 83: 262-269.
58. Mansfield S.G., Kole J, Puttaraju M, Yang CC, Garcia-Blanco M.A., Cohn JA, Mitchell LG. 2000. Repair of CFTRmRNA by spliceosome-mediated RNA trans-splicing. Gene Ther 7: 1885-1895.
59. Mansfield S.G., Clark RH, Puttaraju M, Kole J, Cohn JA, Mitchell L.G., Garcia-Blanco MA. 2003. 5′ exon replacement and repair by spliceosome-mediated RNA transsplicing. RNA 9: 1290-1297.
60. Massie R.J., Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C. 2001. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 17: 1195-1200.
61. McCarthy VA, Harris A. 2005. The CFTR gene and regulation of its expression. Pediatr Pulmonol 40: 1-8.
62. McCarthy VA, Ott CJ, Phylactides M, Harris A. 2009. Interaction of intestinal and pancreatic transcription factors in the regulation of CFTR gene expression. Biochim Biophys Acta 1789: 709-718.
63. Meyerholz D.K., Stoltz DA, Pezzulo AA, Welsh MJ. 2010. Pathology of gastrointestinal organs in a porcine model of cystic fibrosis. Am J Pathol 176: 1377-1389.
64. Morton N.E., Steinberg AG. 1956. Sequential test for linkage between cystic fibrosis of the pancreas and the MNS locus. Am J Hum Genet 8: 177-189.
65. Mouchel N., Henstra SA, McCarthy VA, Williams SH, Phylactides M., Harris A. 2004. HNF1α is involved in tissue-specific regulation of CFTR gene expression. Biochem J 378: 909-918.
66. Newmark P. 1985. Testing for cystic fibrosis. Nature 318: 309.
67. Ostedgaard L.S., Meyerholz DK, Chen JH, Pezzulo AA, Karp P.H., Rokhlina T, Ernst SE, Hanfland RA, Reznikov LR, Ludwig PS, et al. 2011. The DF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs. Sci Transl Med 3: 74ra24.
68. Ott C.J., Blackledge NP, Kerschner JL, Leir SH, Crawford GE, Cotton C.U., Harris A. 2009a. Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus. Proc Natl Acad Sci 106: 19934-19939.
69. Ott C.J., Suszko M, Blackledge NP, Wright JE, Crawford GE, Harris A. 2009b. A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter. J Cell Mol Med 13: 680-692.
70. Pagani F., Raponi M, Baralle FE. 2005. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci 102: 6368-6372.
71. Plotkin J.B., Kudla G. 2010. Synonymous but not the same: The causes and consequences of codon bias. Nat Rev Genet 12: 32-42.
72. Raponi M., Baralle FE, Pagani F. 2007. Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: The case of CFTR exon 12. Nucleic Acids Res 35: 606-613.
73. Riordan J.R., Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z., Zielenski J, Lok S, Plavsic N, Chou JL, et al. 1989. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245: 1066-1073.
74. Rogers C.S., Hao Y, Rokhlina T, Samuel M, Stoltz DA, Li Y, Petroff E., Vermeer DW, Kabel AC, Yan Z, et al. 2008a. Production of CFTR-null and CFTR-DF508 heterozygous pigs by adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer. J Clin Invest 118: 1571-1577.
75. Rogers C.S., Stoltz DA, Meyerholz DK, Ostedgaard LS, Rokhlina T., Taft PJ, Rogan MP, Pezzulo AA, Karp PH, Itani O.A., et al. 2008b. Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs. Science 321: 1837-1841.
76. Romey M.C., Guittard C, Carles S, Demaille J, Claustres M, Ramsay M. 1999. First putative sequence alterations in the minimal CFTR promoter region. J Med Genet 36: 263-264.
77. Rommens J.M., Iannuzzi MC, Kerem B, Drumm ML, Melmer G., Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N., et al. 1989a. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059-1065.
78. Rommens J.M., Zengerling-Lentes S, Kerem B, Melmer G, Buchwald M., Tsui LC. 1989b. Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis. AmJHumGenet 45: 932-941.
79. Rozmahel R., Wilschanski M, Matin A, Plyte S, Oliver M, AuerbachW, Moore A, Forstner J, Durie P, Nadeau J, et al. 1996. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12: 280-287.
80. Rozmahel R., Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC. 1997. Amplification of CFTR exon 9 sequences to multiple locations in the human genome. Genomics 45: 554-561.
81. Scambler P.J., Law HY, Williamson R, Cooper CS. 1986. Chromosome mediated gene transfer of sixDNA markers linked to the cystic fibrosis locus on human chromosome seven. Nucleic Acids Res 14: 7159-7174.
82. Schmiegelow K., Eiberg H, Tsui LC, Buchwald M, Phelan PD, Williamson R, Warwick W, Niebuhr E, Mohr J, Schwartz M., et al. 1986. Linkage between the loci for cystic fibrosis and paraoxonase. Clin Genet 29: 374-377.
83. + channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet 14: 3493-3498.
84. Snouwaert J.N., Brigman KK, Latour AM, Malouf NN, Boucher R.C., Smithies O, Koller BH. 1992. An animal model for cystic fibrosis made by gene targeting. Science 257: 1083-1088.
85. Spence M.A., Tsui LC, Hodge SE, MacCluer JW, Elston RC. 1989. Genetic AnalysisWorkshop 6:Multipoint mapping of loci in the region of cystic fibrosis. Prog Clin Biol Res 329: 1-9.
86. Sun X., Sui H, Fisher JT, Yan Z, Liu X, Cho HJ, Joo NS, Zhang Y., Zhou W, Yi Y, et al. 2010. Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis. J Clin Invest 120: 3149-3160.
87. Tebbutt SJ. 1995. Animal studies of cystic fibrosis. Mol Med Today 1: 336-342.
88. Thomas PJ. 2013. CFTR folding and cellular processing. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect. a009530.
89. Toyoda Y., Hagiya Y, Adachi T, Hoshijima K, Kuo MT, Ishikawa T. 2008. MRP class of human ATP binding cassette (ABC) transporters: Historical background and new research directions. Xenobiotica 38: 833-862.
90. Trezise A.E., Buchwald M. 1991. In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator. Nature 353: 434-437.
91. Tsui LC. 1995. The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med 151: S47-S53.
92. Tsui L.C., Buchwald M. 1988. No evidence for genetic heterogeneity in cystic fibrosis. Am J Hum Genet 42: 184.
93. Tsui L.C., Buchwald M. 1991. Biochemical and molecular genetics of cystic fibrosis. Adv Hum Genet 20: 311-152.
94. Tsui L-C, Estivill X. 1991. Identification of disease genes on the basis of chromosomal localization. In Genome analysis. Vol. 3: Genes and phenotypes (ed. Davies KE, Tilghman S), pp. 1-36. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
95. Tsui L.C., Buchwald M, Barker D, Braman JC, Knowlton R, Schumm J.W., Eiberg H, Mohr J, Kennedy D, Plavsic N, et al. 1985a. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230: 1054-1057.
96. Tsui L.C., Cox DW, McAlpine PJ, Buchwald M. 1985b. Cystic fibrosis: Analysis of linkage of the disease locus to red cell and plasma protein markers. Cytogenet Cell Genet 39: 238-239.
97. Wainwright B.J., Scambler PJ, Schmidtke J, Watson EA, Law H.Y., Farrall M, Cooke HJ, Eiberg H, Williamson R. 1985. Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature 318: 384-385.
98. Wainwright B.J., Scambler PJ, Stanier P, Watson EK, Bell G, Wicking C., Estivill X, Courtney M, Boue A, Pedersen PS. 1988. Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J 7: 1743-1748.
99. Ward C.L., Krouse ME, Gruenert DC, Kopito RR, Wine JJ. 1991. Cystic fibrosis gene expression is not correlated with rectifying Cl-channels. Proc Natl Acad Sci 88: 5277-5281.
100. Wardle C.J., Harris A. 1995. Down-regulation of CFTR expression in an HT29-derived cell line by stable antisense RNA production. Biochim Biophys Acta 1261: 417-423.
101. White R., Woodward S, Leppert M, O'Connell P, Hoff M, Herbst J., Lalouel JM, Dean M, Vande Woude G. 1985. A closely linked genetic marker for cystic fibrosis. Nature 318: 382-384.
102. Wilke M., Buijs-Offerman RM, Aarbiou J, Colledge WH, Sheppard D.N., Touqui L, Bot A, Jorna H, de Jonge HR, Scholte BJ. 2011. Mouse models of cystic fibrosis: Phenotypic analysis and research applications. J Cyst Fibros 10: S152-S171.
103. Xie J., Drumm ML, Ma J, Davis PB. 1995. Intracellular loop between transmembrane segments IV and Vof cystic fibrosis transmembrane conductance regulator is involved in regulation of chloride channel conductance state. J Biol Chem 270: 28084-28091.
104. Ye L., Zhu W, Backx PH, Cortez MA, Wu J, Chow YH, McKerlie C, Wang A, Tsui LC, Gross GJ, et al. 2010. Arrhythmia and sudden death associated with elevated cardiac chloride channel activity. J Cell Mol Med 15: 2307-2316.
105. Zielenski J., Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J.R., Rommens J, Tsui LC. 1991. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10: 214-228.
106. Zuccato E., Buratti E, Stuani C, Baralle FE, Pagani F. 2004. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem 279: 16980-16988.