Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

Gene

Volumn 500, Issue 2, 2012, Pages 194-198

  Taulan, Magali ^a,b   Viart, Victoria ^a,b   Theze, Corinne ^a,b   Guittard, Caroline ^b,c   Altieri, Jean Pierre ^b,c   Templin, Carine ^b,c   Mely, Laurent ^d   Claustres, Mireille ^a,b,c   Des Georges, Marie ^b,c  

^a UNIV MONTPELLIER   (France)

^b UNIVERSITÉ DE MONTPELLIER   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d HÔpital Renée Sabran   (France)

Author keywords

CFTR gene; Cystic fibrosis; Functional analysis; Large rearrangements; MRNA and protein expression

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; COPY NUMBER VARIATION; CYSTIC FIBROSIS; EXON; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE REARRANGEMENT; HETEROZYGOTE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; CELL LINE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; PHENOTYPE; PROGNOSIS; RNA, MESSENGER; SEQUENCE DELETION; YOUNG ADULT;

EID: 84860497772     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.043     Document Type: Article

References (15)

1. Bargon J., et al. Down-regulation of cystic fibrosis transmembrane conductance regulator gene expression by agents that modulate intracellular divalent cations. Mol. Cell. Biol. 1992, 12(4):1872-1878.
2. Dork T., et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum. Genet. 2000, 106:259-268.
3. Du K., Lukacs G.L. Cooperative assembly and misfolding of CFTR domains in vivo. Mol. Biol. Cell. 2009, 20:1903-1915.
4. - transport and overexpression can generate basolateral CFTR. Am. J. Physiol. Lung Cell. Mol. Physiol. 2005, 289:L1123-L1130.
5. Ferec C., et al. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur. J. Hum. Genet. 2006, 14:567-576.
6. Gheldof N., et al. Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene. Nucleic Acids Res. 2010, 38(13):4325-4336.
7. Hegedus T., Aleksandrov A., Cui L., Gentzsch M., Chang X.B., Riordan J.R. F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive. Biochim. Biophys. Acta 2006, 1758:565-572.
8. Kang-Park S., et al. Role for PKC alpha and PKC epsilon in down-regulation of CFTR mRNA in a human epithelial liver cell line. J. Hepatol. 1998, 28:250-262.
9. Komili S., Silver P.A. Coupling and coordination in gene expression processes: a systems biology view. Nat. Rev. Genet. 2008, 9:38-48.
10. Lopez E., et al. Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. J. Med. Genet. 2011, 48:152-159.
11. Riordan J.R., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
12. Smith A.N., et al. A regulatory element in intron 1 of the cystic fibrosis transmembrane conductance regulator gene. J. Biol. Chem. 1996, 271:9947-9954.
13. Taulan M., et al. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med. Genet. 2007, 8:22.
14. Taulan M., Guittard C., Theze C., Claustres M., Georges M.D. A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. Eur. J. Hum. Genet. 2009, 17(12):1683-1687.
15. Varga K., et al. Efficient intracellular processing of the endogenous cystic fibrosis transmembrane conductance regulator in epithelial cell lines. J. Biol. Chem. 2004, 279:22578-22584.