Cis-acting Allelic Variation in MUC5B mRNA Expression is Associated with Different Promoter Haplotypes

Annals of Human Genetics

Volumn 74, Issue 6, 2010, Pages 498-505

  Loh, Andrew X ^a,b   Johnson, Lauren ^a   Ng, Wendy ^a   Swallow, Dallas M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

Author keywords

Cis regulation; Haplotype; MUC5B; Mucin; Promoter; RNA expression

Indexed keywords

CIS ACTING ELEMENT; GENOMIC DNA; MESSENGER RNA; MUCIN 5B; RNA;

ARTICLE; BAYESIAN LEARNING; EXON; FETUS; GENE EXPRESSION; GENETIC DIFFERENCE; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IN VIVO STUDY; PRIORITY JOURNAL; RNA TRANSCRIPTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BAYES THEOREM; GENE EXPRESSION; GENETIC VARIATION; HAPLOTYPES; HUMANS; MUCIN-5B; MUCINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RESPIRATORY TRACT DISEASES; RNA, MESSENGER;

EID: 77958167974     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2010.00613.x     Document Type: Article

References (34)

1. Aarbiou, J., Verhoosel, R. M., Van Wetering, S., De Boer, W. I., Van Krieken, J. H., Litvinov, S. V., Rabe, K. F. & Hiemstra, P. S. (2004) Neutrophil defensins enhance lung epithelial wound closure and mucin gene expression in vitro. Am J Respir Cell Mol Biol, 30, 193-201.
2. Bartlett, N. W., Walton, R. P., Edwards, M. R., Aniscenko, J., Caramori, G., Zhu, J., Glanville, N., Choy, K. J., Jourdan, P., Burnet, J., Tuthill, T. J., Pedrick, M. S., Hurle, M. J., Plumpton, C., Sharp, N. A., Bussell, J. N., Swallow, D. M., Schwarze, J., Guy, B., Almond, J. W., Jeffery, P. K., Lloyd, C. M., Papi, A., Killington, R. A., Rowlands, D. J., Blair, E. D., Clarke, N. J. & Johnston, S. L. (2008) Mouse models of rhinovirus-induced disease and exacerbation of allergic airway inflammation. Nat Med, 14, 199-204.
3. Bray, N. J., Buckland, P. R., Owen, M. J., & O'Donovan, M. C. (2003) Cis-acting variation in the expression of a high proportion of genes in human brain. Hum Genet 113, 149-153.
4. Burgel, P. R., Montani, D., Danel, C., Dusser, D. J. & Nadel, J. A. (2007) A morphometric study of mucins and small airway plugging in cystic fibrosis. Thorax, 62, 153-161.
5. Caramori, G., Di Gregorio, C., Carlstedt, I., Casolari, P., Guzzinati, I., Adcock, I. M., Barnes, P. J., Ciaccia, A., Cavallesco, G., Chung, K. F. & Papi, A. (2004) Mucin expression in peripheral airways of patients with chronic obstructive pulmonary disease. Histopathology, 45, 477-484.
6. Chen, Y., Zhao, Y. H., Di, Y. P. & Wu, R. (2001) Characterization of human mucin 5B gene expression in airway epithelium and the genomic clone of the amino-terminal and 5'-flanking region. Am J Respir Cell Mol Biol, 25, 542-553.
7. Ding, G. Q. & Zheng, C. Q. (2007) The expression of MUC5AC and MUC5B mucin genes in the mucosa of chronic rhinosinusitis and nasal polyposis. Am J Rhinol, 21, 359-366.
8. Gray, T. E., Guzman, K., Davis, C. W., Abdullah, L. H., & Nettesheim, P. (1996) Mucociliary differentiation of serially passaged normal human tracheobronchial epithelial cells. Am J Respir Cell Mol Biol, 14, 104-112.
9. Groneberg, D. A., Eynott, P. R., Lim, S., Oates, T., Wu, R., Carlstedt, I., Roberts, P., McCann, B., Nicholson, A. G., Harrison, B. D. & Chung, K. F. (2002), Expression of respiratory mucins in fatal status asthmaticus and mild asthma. Histopathology, 40, 367-373.
10. Kamio, K., Matsushita, I., Hijikata, M., Kobashi, Y., Tanaka, G., Nakata, K., Ishida, T., Tokunaga, K., Taguchi, Y., Homma, S., Azuma, A., Kudoh, S. & Keicho, N. (2005) Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Am J Respir Crit Care Med, 171, 949-957.
11. Kamio, K., Matsushita, I., Tanaka, G., Ohashi, J., Hijikata, M., Nakata, K., Tokunaga, K., Azuma, A., Kudoh, S. & Keicho, N. (2004) Direct determination of MUC5B promoter haplotypes based on the method of single-strand conformation polymorphism and their statistical estimation. Genomics, 84, 613-622.
12. Kim, D. H., Chu, H. S., Lee, J. Y., Hwang, S. J., Lee, S. H. & Lee, H. M. (2004) Up-regulation of MUC5AC and MUC5B mucin genes in chronic rhinosinusitis. Arch Otolaryngol Head Neck Surg, 130, 747-752.
13. Kirkham, S., Sheehan, J. K., Knight, D., Richardson, P. S. & Thornton, D. J. (2002) Heterogeneity of airways mucus: variations in the amounts and glycoforms of the major oligomeric mucins MUC5AC and MUC5B. Biochem J, 361, 537-546.
14. Lamblin, G., Lhermitte, M., Klein, A., Houdret, N., Scharfman, A., Ramphal, R. & Roussel, P. (1991) The carbohydrate diversity of human respiratory mucins: a protection of the underlying mucosa?, Am Rev Respir Dis, 144, S19-S24.
15. Lamblin, G. & Roussel, P. (1993) Airway mucins and their role in defence against micro-organisms. Respir Med, 87, 421-426.
16. Lin, W., Yang, H. H. & Lee, M. P. (2005) Allelic variation in gene expression identified through computational analysis of the dbEST database. Genomics, 86, 518-527.
17. Lo, H. S., Wang, Z., Hu, Y., Yang, H. H., Gere, S., Buetow, K. H. & Lee, M. P. (2003) Allelic variation in gene expression is common in the human genome. Genome Res, 13, 1855-1862.
18. Ng, W., Loh, A. X., Teixeira, A. S., Pereira, S. P. & Swallow, D. M. (2008) Genetic regulation of MUC1 alternative splicing in human tissues. Br J Cancer, 99, 978-985.
19. Pastinen, T. & Hudson, T. J. (2004) Cis-acting regulatory variation in the human genome. Science, 306, 647-650.
20. Preciado, D., Lin, J., Wuertz, B. & Rose, M. (2008) Cigarette smoke activates NF kappa B and induces Muc5b expression in mouse middle ear cells. Laryngoscope, 118, 464-471.
21. Reid, C. J., Gould, S. & Harris, A. (1997) Developmental expression of mucin genes in the human respiratory tract. Am J Respir Cell Mol Biol, 17, 592-598.
22. Rockman, M. V. & Wray, G. A. (2002) Abundant raw material for cis-regulatory evolution in humans. Mol Biol Evol, 19, 1991-2004.
23. Scheet, P. & Stephens, M. (2006) A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet, 78, 629-644.
24. Stephens, M., Smith, N. J. & Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet, 68, 978-989.
25. Stranger, B. E., Nica, A. C., Forrest, M. S., Dimas, A., Bird, C. P., Beazley, C., Ingle, C. E., Dunning, M., Flicek, P., Koller, D., Montgomery, S., Tavare, S., Deloukas, P. & Dermitzakis, E. T. (2007) Population genomics of human gene expression. Nat Genet, 39, 1217-1224.
26. Thomsson, K. A., Schulz, B. L., Packer, N. H., & Karlsson, N. G. (2005) MUC5B glycosylation in human saliva reflects blood group and secretor status. Glycobiology, 15, 791-804.
27. Thornton, D. J., Carlstedt, I., Howard, M., Devine, P. L., Price, M. R. & Sheehan, J. K. (1996) Respiratory mucins: identification of core proteins and glycoforms. Biochem J, 316, 967-975.
28. Thornton, D. J., Devine, P. L., Hanski, C., Howard, M. & Sheehan, J. K. (1994) Identification of two major populations of mucins in respiratory secretions. Am J Respir Crit Care Med, 150, 823-832.
29. Viswanathan, H., Brownlee, I. A., Pearson, J. P. & Carrie, S. (2006) MUC5B secretion is up-regulated in sinusitis compared with controls. Am J Rhinol, 20, 554-557.
30. Wickstrom, C., Davies, J. R., Eriksen, G. V., Veerman, E. C. & Carlstedt, I. (1998) MUC5B is a major gel-forming, oligomeric mucin from human salivary gland, respiratory tract and endocervix: identification of glycoforms and C-terminal cleavage. Biochem J, 334 (Pt 3), 685-693.
31. Yan, H., Dobbie, Z., Gruber, S. B., Markowitz, S., Romans, K., Giardiello, F. M., Kinzler, K. W. & Vogelstein, B. (2002a) Small changes in expression affect predisposition to tumorigenesis. Nat Genet, 30, 25-26.
32. Yan, H., Yuan, W., Velculescu, V. E., Vogelstein, B. & Kinzler, K. W. (2002b) Allelic variation in human gene expression. Science, 297, 1143.
33. Ye, S., Humphries, S. & Green, F. (1992) Allele specific amplification by tetra-primer PCR. Nucleic Acids Res, 20, 1152.
34. Yuan-Chen Wu, D., Wu, R., Reddy, S. P., Lee, Y. C. & Chang, M. M. (2007) Distinctive epidermal growth factor receptor/extracellular regulated kinase-independent and -dependent signaling pathways in the induction of airway mucin 5B and mucin 5AC expression by phorbol 12-myristate 13-acetate. Am J Pathol, 170, 20-32.