Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

Human Molecular Genetics

Volumn 6, Issue 1, 1997, Pages 85-90

  Teng, Hui ^a   Jorissen, Mark ^b   Van Poppel, Hein ^b   Legius, Eric ^a   Cassiman, Jean Jacques ^a   Cuppens, Harry ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALTERNATIVE RNA SPLICING; ARTICLE; EPITHELIUM CELL; EXON; HUMAN; HUMAN TISSUE; INTRON; MALE; NOSE MUCOSA; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VAS DEFERENS;

ALTERNATIVE SPLICING; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL CELLS; EXONS; HUMANS; MALE; NOSE; RNA; VAS DEFERENS;

EID: 0031023970     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.85     Document Type: Article

References (25)

1. Schellen,T.M.C.M. and van Straaten,A. (1980) Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings. Fertil. Steril., 34, 401-404.
2. Jequier,A.M., Ansell,I.D. and Bullimore,N.J. (1985) Congenital absence of the vasa deferentia presenting with infertility. J. Androl., 6, 15-19.
3. Holsclaw,D.S., Perlmutter,A.D., Jockin,H. and Shwachman,H. (1971) Genital abnormalities in male patients with cystic fibrosis. J. Urology, 106, 568-574.
4. Riordan,J.R., Rommens,J.M., Kerem,B.-S., Alon,N., Rozmahel,R., Grzelczak,Z., Zielenski,J., Lok,S., Plavsic,N., Chou,J.-L., Drumm,M.L., Iannuzzi,M.C., Collins,F.S. and Tsui,L.-C. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science, 245, 1066-1073.
5. Bear,C.E., Li,C., Kartner,N., Bridges,R.J., Jensen,T.J., Ramjeesingh,M. and Riordan,J.R. (1992) Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell, 68, 809-818.
6. Kerem,B.-S., Rommens,J.M., Buchanan,J.A., Markiewicz,D., Cox,T.K., Chakravarti,A., Buchwald,M. and Tsui,L.-C. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073-1080.
7. The Cystic Fibrosis Genetic Analysis Consortium. (1994) Population variation of common cystic fibrosis mutations. Hum. Mutat., 4, 167-177.
8. Dumur,V., Gervais,R., Rigot,J.-M., Lafitte,J.-J., Manouvrier,S., Biserte,J., Mazeman,E. and Roussel,P. (1990) Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of cpididymis and vas deferens. Lancet, 336, 512.
9. Chillón,M., Casals,T., Mercier,B., Bassas,L., Lissens,W., Silber,S., Romey,M.-C., Ruiz-Romero,J., Verlingue,C., Claustres,M., Nunes,V., Férec,C. and Estivill,X. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med., 332, 1475-1480.
10. Zielenski,J., Patrizio,P., Corey,M., Handelin,B., Markiewicz,D., Asch,R. and Tsui,L.-C. (1995) CFTR gene variant for patients with congenital absence of vas deferens. Am. J. Hum. Genet., 57, 958-960.
11. n 5T allele in men with congenital bilateral absence of the vas deferens. Eur. J. Hum. Genet., 3, 285-293.
12. Anguiano,A., Oates,R.D., Amos,J.A., Dean,M., Gerrard,B., Stewart,C., Maher,T.A., White,M.B. and Milunsky,A. (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. J. Am. Med. Assoc., 267, 1794-1797.
13. Osborne,L.R., Lynch,M., Middleton,P.G., Alton,E.W.F.W., Geddes,D.M., Pryor,J.P., Hodson,M.E. and Santis,G.K. (1993) Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum. Mol. Genet., 2, 1605-1609.
14. Chu,C.-S., Trapnell,B.C., Murtagh,J.J.Jr., Moss,J., Dalemans,W., Jallat,S., Mercenier,A., Pavirani,A., Lecocq,J.-P., Cutting,G.R., GugginoW.B. and Crystal,R.G. (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.
15. Chu,C.-S., Trapnell,B.C., Curristin,S.M., Cutting,G.R. and Crystal,R.G. (1992) Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J. Clin. Invest., 90, 785-790.
16. Chu,C.-S., Trapnell,B.C., Curristin,S., Cutting,G.R. and Crystal,R.G. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet., 3, 151-156.
17. Strong,T.V., Wilkinson,D.J., Mansoura,M.K., Devor,D.C., Henze,K., Yang,Y., Wilson,J.M., Cohn,J.A., Dawson,D.C., Frizzell,R.A. and Collins,F.S. (1993) Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum. Mol. Genet., 2, 225-230.
18. Delaney,S.J., Rich,D.P., Thomson,S.A., Hargrave,M.R., Lovelock,P.K., Welsh,M.J. and Wainwright,B.J. (1993) Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nature Genet. 4, 426-431.
19. Cuppens,H., Teng,H., Raeymaekers,P., De Boeck,C. and Cassiman,J.-J. (1994) CFTR haplotype backgrounds on normal and mutant CFTR genes. Hum. Mol. Genet., 3, 607-614.
20. Dörk,T., Fislage,R., Neumann,T., Wulf,B. and Tümmler,B. (1994) Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum. Genet., 93, 67-73.
21. Trapnell,B.C., Chu,C.-S., Paakko,P.K., Banks,T.C., Yoshimura,K., Ferrans,V.J., Chemick,M.S. and Crystal,R.G. (1991) Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc. Natl. Acad. Sci. USA, 88, 6565-6569.
22. Rave-Harel,N., Goshen,R., Madgar,I., Augarten,A., Nissim-Rafmia,M., Kerem,E. and Kerem,B. (1995) Different levels of exon 9 skipping between testicular and respiratory cells may underline the different organ involvement in CF. Pediatr. Pulm., 20sp, 203
23. - channels with altered pore properties. Nature, 362, 160-164.
24. Jorissen,M., Van der Schueren,B., Van den Berghe,H. and Cassiman,J.-J. (1989) The preservation and regeneration of cilia on human nasal epithelial cells cultured in vitro. Arch. Otorhinolaryngol., 246, 308-314.
25. Cuppens,H., Marynen,P., De Boeck,C. and Cassiman,J.-J. (1993) Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics, 18, 693-697.