Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

Journal of Medical Genetics

Volumn 48, Issue 3, 2011, Pages 152-159

  Lopez, Estelle ^a,b   Viart, Victoria ^a,b   Guittard, Caroline ^b,c   Templin, Carine ^b,c   René, Céline ^a,b,c   Méchin, Déborah ^b   Des Georges, Marie ^b,c   Claustres, Mireille ^a,b,c   Romey Chatelain, Marie Catherine ^a,b   Taulan, Magali ^a,b,c  

^a UNIV MONTPELLIER   (France)

^b UNIVERSITÉ DE MONTPELLIER   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; MICROSATELLITE DNA;

ALLELE; ARTICLE; BASE PAIRING; BINDING AFFINITY; CFTR GENE; CHROMATIN STRUCTURE; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; CONTROLLED STUDY; GENE; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MALE GENITAL TRACT MALFORMATION; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; REPORTER GENE; SEQUENCE ANALYSIS; UNTRANSLATED REGION; VAS DEFERENS;

ALLELES; CELLS, CULTURED; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FORKHEAD TRANSCRIPTION FACTORS; HELA CELLS; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; INTRONS; MALE; MICROSATELLITE REPEATS; MUTATION; PHENOTYPE; PROMOTER REGIONS, GENETIC; UNTRANSLATED REGIONS; VAS DEFERENS;

EID: 79951814125     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081851     Document Type: Article

References (46)

1. Claustres M. Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online 2005;10:14-41. (Pubitemid 40100652)
2. Radpour R, Gourabi H, Dizaj AV, Holzgreve W, Zhong XY. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility. J Androl 2008;29:506-13.
3. Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000;84:597-607. (Pubitemid 30346155)
4. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-33. (Pubitemid 30193081)
5. Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl 2004;27:251-6. (Pubitemid 39371847)
6. Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343-57. (Pubitemid 38461516)
7. Hantash FM, Redman JB, Goos D, Kammesheidt A, McGinniss MJ, Sun W, Strom CM. Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn 2007;9:556-60. (Pubitemid 47434123)
8. Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007;8:22.
9. Taulan M, Guittard C, Theze C, Claustres M, Georges MD. A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. Eur J Hum Genet 2009;17:1683-7.
10. Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000;16:143-56. (Pubitemid 30604904)
11. Romey MC, Guittard C, Carles S, Demaille J, Claustres M, Ramsay M. First putative sequence alterations in the minimal CFTR promoter region. J Med Genet 1999;36:263-4. (Pubitemid 29110465)
12. Li YC, Korol AB, Fahima T, Nevo E. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol 2004;21:991-1007. (Pubitemid 38658207)
13. Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006;29:259-77. (Pubitemid 44476846)
14. Czajka-Oraniec I, Zgliczynski W, Kurylowicz A, Mikula M, Ostrowski J. Association between gynecomastia and aromatase (CYP19) polymorphisms. Eur J Endocrinol 2008;158:721-7. (Pubitemid 351639611)
15. Baugh JA, Chitnis S, Donnelly SC, Monteiro J, Lin X, Plant BJ, Wolfe F, Gregersen PK, Bucala R. A functional promoter polymorphism in the macrophage migration inhibitory factor (MIF) gene associated with disease severity in rheumatoid arthritis. Genes Immun 2002;3:170-6. (Pubitemid 38961128)
16. Meloni R, Albanese V, Ravassard P, Treilhou F, Mallet J. A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro. Hum Mol Genet 1998;7:423-8. (Pubitemid 28120631)
17. Hedjran F, Yeakley JM, Huh GS, Hynes RO, Rosenfeld MG. Control of alternative pre-mRNA splicing by distributed pentameric repeats. Proc Natl Acad Sci U S A 1997;94:12343-7. (Pubitemid 27492530)
18. Chehab FF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H. A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin. Am J Hum Genet 1991;48:223-6. (Pubitemid 21891585)
19. Xu Z, Gruenert DC. Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9. Biochem Biophys Res Commun 1996;219:140-5. (Pubitemid 26071617)
20. Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, Castaldo G. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009;55:1372-9.
21. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993;3:151-6. (Pubitemid 23079798)
22. Disset A, Michot C, Harris A, Buratti E, Claustres M, Tuffery-Giraud S. A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat 2005;25:72-81. (Pubitemid 40075916)
23. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ. 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 1998;101:487-96. (Pubitemid 28067347)
24. Niksic M, Romano M, Buratti E, Pagani F, Baralle FE. Functional analysis of cisacting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999;8:2339-49.
25. Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000;275:21041-7. (Pubitemid 30481793)
26. Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn 2007;9:582-8. (Pubitemid 350158416)
27. Romey MC, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, Claustres M. A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. J Biol Chem 2000;275:3561-7. (Pubitemid 30083065)
28. Taulan M, Lopez E, Guittard C, Rene C, Baux D, Altieri JP, DesGeorges M, Claustres M, Romey MC. First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding. Biochem Biophys Res Commun 2007;361:775-81. (Pubitemid 47238047)
29. Rene C, Taulan M, Iral F, Doudement J, L'Honore A, Gerbon C, Demaille J, Claustres M, Romey MC. Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway. Nucleic Acids Res 2005;33:5271-90. (Pubitemid 41508684)
30. Blomqvist SR, Vidarsson H, Soder O, Enerback S. Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility. Embo J 2006;25:4131-41. (Pubitemid 44338753)
31. Cornwall GA. New insights into epididymal biology and function. Hum Reprod Update 2009;15:213-27.
32. Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hubner CA. The forkhead transcription factor Foxi1 directly activates the AE4 promoter. Biochem J 2006;393:277-83. (Pubitemid 43049324)
33. Albanese V, Biguet NF, Kiefer H, Bayard E, Mallet J, Meloni R. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet 2001;10:1785-92. (Pubitemid 32899096)
34. Martin P, Makepeace K, Hill SA, Hood DW, Moxon ER. Microsatellite instability regulates transcription factor binding and gene expression. Proc Natl Acad Sci U S A 2005;102:3800-4. (Pubitemid 40354692)
35. Del Mastro RG, Turenne L, Giese H, Keith TP, Van Eerdewegh P, May KJ, Little RD. Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene. BMC Med Genet 2007;8:46.
36. Tomaras GD, Foster DA, Burrer CM, Taffet SM. ETS transcription factors regulate an enhancer activity in the third intron of TNF-alpha. J Leukoc Biol 1999;66:183-93. (Pubitemid 29321387)
37. Katoh M, Katoh M. Human FOX gene family (Review). Int J Oncol 2004;25:1495-500.
38. Carlsson P, Mahlapuu M. Forkhead transcription factors: key players in development and metabolism. Dev Biol 2002;250:1-23.
39. Lantz KA, Kaestner KH. Winged-helix transcription factors and pancreatic development. Clin Sci (Lond) 2005;108:195-204. (Pubitemid 40343566)
40. Clevidence DE, Overdier DG, Tao W, Qian X, Pani L, Lai E, Costa RH. Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family. Proc Natl Acad Sci U S A 1993;90:3948-52. (Pubitemid 23134143)
41. Overdier DG, Ye H, Peterson RS, Clevidence DE, Costa RH. The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney. J Biol Chem 1997;272:13725-30. (Pubitemid 27224808)
42. Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. Embo J 1994;13:5002-12. (Pubitemid 24319383)
43. Phylactides M, Rowntree R, Nuthall H, Ussery D, Wheeler A, Harris A. Evaluation of potential regulatory elements identified as DNase I hypersensitive sites in the CFTR gene. Eur J Biochem 2002;269:553-9. (Pubitemid 34128013)
44. Cirillo LA, Lin FR, Cuesta I, Friedman D, Jarnik M, Zaret KS. Opening of compacted chromatin by early developmental transcription factors HNF3 (FoxA) and GATA-4. Mol Cell 2002;9:279-89. (Pubitemid 34195554)
45. Yan J, Xu L, Crawford G, Wang Z, Burgess SM. The forkhead transcription factor FoxI1 remains bound to condensed mitotic chromosomes and stably remodels chromatin structure. Mol Cell Biol 2006;26:155-68.
46. Ott CJ, Blackledge NP, Leir SH, Harris A. Novel regulatory mechanisms for the CFTR gene. Biochem Soc Trans 2009;37:843-8.