title: The cystic fibrosis gene: a molecular genetic perspective.
abstract: The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first step in understanding the basic defect and pathophysiology of the disease. This study aims to provide a historical account of key developments as well as factors that contributed to the cystic fibrosis transmembrane conductance regulator (CFTR) gene identification work. A redefined gene structure based on the full sequence of the gene derived from the Human Genome Project is presented, along with brief reviews of the transcription regulatory sequences for the CFTR gene, the role of mRNA splicing in gene regulation and CF disease, and, various related sequences in the human genome and other species. Because CF mutations and genotype-phenotype correlations are covered by our colleagues (Ferec C, Cutting GR. 2012. Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a009480), we only attempt to provide an introduction of the CF mutation database here for reference purposes.
authors: The University of Hong Kong, Hong Kong, Special Administrative Region, China. tsuilc@hku.hk
authors: Lap-Chee
authors: LC
authors: Tsui
authors: Ruslan
authors: R
authors: Dorfman
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D003001:Cloning, Molecular; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D030541:Databases, Genetic; D004195:Disease Models, Animal; D005091:Exons / Q000235:genetics; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D009626:Terminology as Topic; D020040:Trans-Splicing / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
references: Nucleic Acids Res. 2007;35(2):606-13
references: 17172597
references: Am J Hum Genet. 1989 Dec;45(6):932-41
references: 2589321
references: Science. 1992 Aug 21;257(5073):1083-8
references: 1380723
references: Biochim Biophys Acta. 2009 Nov-Dec;1789(11-12):709-18
references: 19782160
references: J Cell Mol Med. 2011 Nov;15(11):2307-16
references: 21155978
references: Nucleic Acids Res. 1986 Sep 25;14(18):7159-74
references: 3763403
references: Am J Respir Cell Mol Biol. 2007 Jan;36(1):1-7
references: 16888286
references: J Biol Chem. 2004 Apr 23;279(17):16980-8
references: 14966131
references: Eur Respir J. 2001 Jun;17(6):1195-200
references: 11491164
references: Cold Spring Harb Perspect Med. 2013 Feb 01;3(2):a009514
references: 23378596
references: Am J Respir Cell Mol Biol. 2010 Sep;43(3):334-41
references: 19855085
references: J Clin Invest. 2010 Sep;120(9):3149-60
references: 20739752
references: J Mol Diagn. 2010 May;12(3):380-3
references: 20190016
references: Science. 1989 Sep 8;245(4922):1066-73
references: 2475911
references: Harvey Lect. 1990-1991;86:149-64
references: 2152136
references: J Clin Invest. 2008 Apr;118(4):1571-7
references: 18324337
references: Am J Hum Genet. 1980 May;32(3):314-31
references: 6247908
references: Clin Genet. 1985 Oct;28(4):265-71
references: 2998653
references: Chest. 2007 Nov;132(5):1631-6
references: 17998363
references: Trends Genet. 2001 Oct;17(10):S29-37
references: 11585674
references: RNA. 2003 Oct;9(10):1290-7
references: 13130143
references: J Med Genet. 1999 Mar;36(3):263-4
references: 10204861
references: Nature. 1991 Oct 3;353(6343):434-7
references: 1716739
references: Nature. 2007 Jun 14;447(7146):799-816
references: 17571346
references: Nature. 1987 Apr 30-May 6;326(6116):840-5
references: 2883581
references: N Engl J Med. 1993 Feb 11;328(6):446-7
references: 8421472
references: J Mol Diagn. 2009 Sep;11(5):488-93
references: 19710401
references: Biochem J. 2007 Dec 1;408(2):267-75
references: 17696881
references: Nature. 1990 Sep 27;347(6291):382-6
references: 1699127
references: Nat Rev Genet. 2005 Apr;6(4):271-86
references: 15803197
references: Nat Genet. 2010 Nov;42(11):969-72
references: 20890277
references: Cytogenet Cell Genet. 1985;39(3):238-9
references: 4042695
references: Mamm Genome. 2002 Nov;13(11):614-8
references: 12461646
references: Mol Ther. 2001 Jul;4(1):58-65
references: 11472107
references: Biochim Biophys Acta. 1995 Apr 26;1261(3):417-23
references: 7537973
references: Am J Hum Genet. 1956 Sep;8(3):177-89
references: 13362225
references: Am J Hum Genet. 1988 Jan;42(1):184
references: 3337109
references: Genomics. 1991 May;10(1):214-28
references: 1710598
references: J Cyst Fibros. 2011 Jun;10 Suppl 2:S152-71
references: 21658634
references: Am J Pathol. 2010 Mar;176(3):1377-89
references: 20110417
references: Physiol Rev. 2006 Jul;86(3):849-99
references: 16816140
references: Biochem J. 2004 Mar 15;378(Pt 3):909-18
references: 14656222
references: J Biol Chem. 2001 Sep 28;276(39):36337-43
references: 11470789
references: Am J Hum Genet. 1989 Mar;44(3):307-18
references: 2563631
references: Eur Respir J. 2009 Sep;34(3):772-3
references: 19720813
references: Science. 1991 Dec 20;254(5039):1797-9
references: 1722350
references: Am J Dis Child. 1946 Jul;72:62-80
references: 20994055
references: EMBO J. 1991 Jun;10(6):1355-63
references: 1709095
references: Hum Mutat. 2009 Jul;30(7):1093-103
references: 19462466
references: Sci Transl Med. 2011 Mar 16;3(74):74ra24
references: 21411740
references: Nature. 1990 Jul 26;346(6282):366-9
references: 1695717
references: Genome Res. 2008 Aug;18(8):1247-58
references: 18456862
references: Science. 1985 Nov 29;230(4729):1054-7
references: 2997931
references: Am J Hum Genet. 1956 Sep;8(3):162-76
references: 13362224
references: Mol Med Today. 1995 Oct;1(7):336-42
references: 9415174
references: Nat Biotechnol. 2002 Jan;20(1):47-52
references: 11753361
references: Am J Hum Genet. 1997 Oct;61(4):810-2
references: 9382090
references: Physiol Genomics. 2003 Jan 15;12(2):79-84
references: 12441405
references: Genomics. 2004 Feb;83(2):262-9
references: 14706455
references: Science. 1989 Sep 8;245(4922):1059-65
references: 2772657
references: Xenobiotica. 2008 Jul;38(7-8):833-62
references: 18668432
references: J Cell Mol Med. 2009 Apr;13(4):680-92
references: 19449463
references: Nature. 1985 Nov 28-Dec 4;318(6044):309
references: 2999607
references: Genomics. 1997 Nov 1;45(3):554-61
references: 9367680
references: Nat Genet. 2003 Mar;33 Suppl:228-37
references: 12610532
references: J Biol Chem. 1995 Nov 24;270(47):28084-91
references: 7499295
references: Proc Natl Acad Sci U S A. 2009 Nov 24;106(47):19934-9
references: 19897727
references: Mamm Genome. 2002 Nov;13(11):605-13
references: 12461645
references: Nat Rev Genet. 2008 Apr;9(4):314-8
references: 18283274
references: Cell. 1990 Sep 21;62(6):1227-33
references: 1698126
references: Science. 2008 Sep 26;321(5897):1837-41
references: 18818360
references: Cold Spring Harb Perspect Med. 2013 Jan 01;3(1):a009498
references: 23284076
references: Nature. 1985 Nov 28-Dec 4;318(6044):382-4
references: 3906407
references: Nucleic Acids Res. 2009 Mar;37(4):1086-94
references: 19129223
references: Nat Genet. 1993 Feb;3(2):151-6
references: 7684646
references: Nature. 1985 Nov 28-Dec 4;318(6044):384-5
references: 2999612
references: Hum Mol Genet. 2003 Aug 15;12(16):2031-40
references: 12913074
references: Hum Mutat. 1993;2(4):245-8
references: 8401532
references: PLoS One. 2010 Oct 22;5(10):e13574
references: 21042586
references: Genomics. 1994 Jan 15;19(2):362-4
references: 7514569
references: Clin Genet. 1986 May;29(5):374-7
references: 3017612
references: Nat Rev Genet. 2011 Jan;12(1):32-42
references: 21102527
references: Nature. 1985 Nov 28-Dec 4;318(6044):380-2
references: 2999611
references: Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 2):S47-53
references: 7533605
references: J Biol Chem. 2010 Sep 10;285(37):28741-8
references: 20628052
references: EMBO J. 1988 Jun;7(6):1743-8
references: 2971536
references: PLoS Genet. 2010 Oct 07;6(10):
references: 20949073
references: Science. 2004 Oct 22;306(5696):636-40
references: 15499007
references: Prog Clin Biol Res. 1989;329:1-9
references: 2622935
references: Pediatr Pulmonol. 2005 Jul;40(1):1-8
references: 15806593
references: Nat Genet. 1996 Mar;12(3):280-7
references: 8589719
references: Science. 1987 Feb 27;235(4792):1046-9
references: 2950591
references: Nat Genet. 1992 Apr;1(1):3-6
references: 1301996
references: Am J Hum Genet. 1989 Jun;44(6):827-34
references: 2567116
references: Science. 1989 Sep 8;245(4922):1073-80
references: 2570460
references: Gene Ther. 2000 Nov;7(22):1885-95
references: 11127576
references: Nat Genet. 2005 Dec;37(12):1299-300
references: 16314858
references: Adv Hum Genet. 1991;20:153-266, 311-2
references: 1724873
references: Hum Mutat. 2007 Jun;28(6):554-62
references: 17326095
references: Proc Natl Acad Sci U S A. 2005 May 3;102(18):6368-72
references: 15840711
references: Trends Genet. 2003 Mar;19(3):135-40
references: 12615007
references: Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5277-81
references: 1711224
references: Hum Mol Genet. 2005 Nov 15;14(22):3493-8
references: 16207733