Analysis of Keratin Polypeptides 8 and 19 Variants in Inflammatory Bowel Disease

Clinical Gastroenterology and Hepatology

Volumn 5, Issue 7, 2007, Pages 857-864

  Tao, Guo Zhong ^a   Strnad, Pavel ^a   Zhou, Qin ^a   Kamal, Ahmad ^a   Zhang, Leilei ^b   Madani, Nahid D ^a   Kugathasan, Subra ^c   Brant, Steven R ^d   Cho, Judy H ^e   Omary, M Bishr ^a   Duerr, Richard H ^b,f  

^a STANFORD UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d SCHOOL OF MEDICINE   (United States)

^e IBD Center   (United States)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; KERATIN; POLYPEPTIDE;

ALLELE; ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENTERITIS; EXON; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATION; POLYMERASE CHAIN REACTION; PROGENY; PROMOTER REGION; PROTEIN ANALYSIS;

ALLELES; BIOPSY; DNA; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENDOSCOPY, GASTROINTESTINAL; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOBLOTTING; INFLAMMATORY BOWEL DISEASES; KERATIN-19; KERATIN-8; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS;

EID: 34447256176     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cgh.2007.02.017     Document Type: Article

References (45)

1. Friedman S., and Blumberg R.S. Imflammatory bowel disease. In: Fauci A.S., Braunwald E., Lsselbacher K.J., et al. (Eds). Harrison's principles of internal medicine. 15th ed. (2002), McGraw-Hill, New York
2. Yang H., and Rotter J.I. Genetics of inflammatory bowel disease. In: Targan S.R., and Shanahan F. (Eds). Inflammatory bowel disease: from bench to bedside (1994), Williams and Wilkins, Baltimore 32-64
3. Duerr R.H. The genetics of inflammatory bowel disease. Gastroenterol Clin North Am 31 (2002) 63-76
4. Hugot J.P. Genetic origin of IBD. Inflamm Bowel Dis 10 Suppl (2004) S11-S15
5. Basu D., Lopez I., Kulkarni A., et al. Impact of race and ethnicity on inflammatory bowel disease. Am J Gastroenterol 100 (2005) 2254-2261
6. Cummings J.R., and Jewell D.P. Clinical implications of inflammatory bowel disease genetics on phenotype. Inflamm Bowel Dis 11 (2005) 56-61
7. Powrie F., and Uhlig H. Animal models of intestinal inflammation: clues to the pathogenesis of inflammatory bowel disease. Novartis Found Symp 263 (2004) 164-174
8. Korzenik J.R. Past and current theories of etiology of IBD: toothpaste, worms, and refrigerators. J Clin Gastroenterol 39 (2005) S59-S65
9. Jobin C., and Sartor R.B. The I kappa B/NF-kappa B system: a key determinant of mucosalinflammation and protection. Am J Physiol Cell Physiol 278 (2000) C451-C462
10. Cavanaugh J.A. IBD International Genetics Consortium: international cooperation making sense of complex disease. Inflamm Bowel Dis 9 (2003) 190-193
11. Moll R., Franke W.W., Schiller D.L., et al. The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell 31 (1982) 11-24
12. Coulombe P.A., and Omary M.B. "Hard" and "soft" principles defining the structure, function and regulation of keratin intermediate filaments. Curr Opin Cell Biol 14 (2002) 110-122
13. Schweizer J., Bowden P.E., Coulombe P.A., et al. New consensus nomenclature for mammalian keratins. J Cell Biol 174 (2006) 169-174
14. Omary M.B., Coulombe P.A., and McLean W.H. Intermediate filament proteins and their associated diseases. N. Engl. J. Med 351 (2004) 2087-2100
15. Ku N.O., Lim J.K., Krams S.M., et al. Keratins as susceptibility genes for end stage liver disease. Gastroenterology 129 (2005) 885-893
16. Strnad P., Lienau T.C., Tao G.Z., et al. Keratin variants associate with progression of fibrosis during chronic hepatitis C infection. Hepatology 43 (2006) 1354-1363
17. Omary M.B., Ku N.O., and Toivola D.M. Keratins: guardians of the liver. Hepatology 35 (2002) 251-257
18. Baribault H., Penner J., Iozzo R.V., et al. Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice. Genes Dev 8 (1994) 2964-2973
19. Habtezion A., Toivola D.M., Butcher E.C., et al. Keratin-8-deficient mice develop chronic spontaneous Th2 colitis amenable to antibiotic treatment. J Cell Sci 118 (2005) 1971-1980
20. Loranger A., Duclos S., Grenier A., et al. Simple epithelium keratins are required for maintenance of hepatocyte integrity. Am J Pathol 151 (1997) 1673-1683
21. Zatloukal K., Stumptner C., Lehner M., et al. Cytokeratin 8 protects from hepatotoxicity, and its ratio to cytokeratin 18 determines the ability of hepatocytes to form Mallory bodies. Am J Pathol 156 (2000) 1263-1274
22. Owens D.W., Wilson N.J., Hill A.J., et al. Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients. J Cell Sci 117 (2004) 1989-1999
23. Buning C., Halangk J., Dignass A., et al. Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease. Dig Liver Dis 36 (2004) 388-391
24. Satsangi J., Parkes M., Louis E., et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosome 3, 7 and 12. Nat Genet 14 (1996) 199-202
25. Duerr R.H., Barmada M.M., Zhang L., et al. Linkage and association between inflammatory bowel disease and a locus on chromosome 12. Am J Hum Genet 63 (1998) 95-100
26. Parkes M., Barmada M.M., Satsangi J., et al. The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease. Am J Hum Genet 67 (2000) 1605-1610
27. Achkar J.P., Dassopoulos T., Silverberg M.S., et al. Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus. Am J Gastroenterol 101 (2006) 572-580
28. Magin T.M., Reichelt J., and Hatzfeld M. Emerging functions: diseases and animal models reshape our view of the cytoskeleton. Exp Cell Res 301 (2004) 91-102
29. Ku N.O., Toivola D.M., Tao G.Z., et al. Studying simple epithelial keratins in cells and tissues. Methods Cell Biol 78 (2004) 489-517
30. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
31. Towbin H., Staehelin T., and Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci U S A 76 (1979) 4350-4354
32. Strnad P., Lienau T.C., Tao G.Z., et al. Denaturing temperature selection may underestimate keratin mutation detection by DHPLC. Hum Mutat 27 (2006) 444-452
33. Ronaghi M., Uhlen M., and Nyren P. A sequencing method based on real-time pyrophosphate. Science 281 (1998) 363-365
34. Hinds DA, Risch N. The ASPEX package: affected sib-pair exclusion mapping. Available at: http://aspex.sourceforge.net/. 1996. Accessed August 18, 2006.
35. Spielman R.S., McGinnis R.E., and Ewens W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52 (1993) 506-516
36. Ku N.O., Darling J., Krams S.M., et al. Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. Proc Natl Acad Sci U S A 100 (2003) 6063-6068
37. Klug D.B., Carter C., Crouch E., et al. Interdependence of cortical thymic epithelial cell differentiation and T-lineage commitment. Proc Natl Acad Sci U S A 95 (1998) 11822-11827
38. Toivola D.M., Krishnan S., Binder H.J., et al. Keratins modulate colonocyte electrolyte transport via protein mistargeting. J Cell Biol 164 (2004) 911-921
39. Treiber M., Schulz H.U., Landt O., et al. Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer. J Mol Med 84 (2006) 1015-1022
40. Hesse M., Berg T., Wiedenmann B., et al. A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders. J Med Genet 41 (2004) e42
41. Ku N.O., Gish R., Wright T.L., et al. Keratin 8 mutations in patients with cryptogenic liver disease. N Engl J Med 344 (2001) 1580-1587
42. Ku N.O., and Omary M.B. A disease and phosphorylation related non-mechanical function for keratin 8. J Cell Biol 174 (2006) 115-125
43. Zhou Q., Ji X., Chen L., et al. Keratin mutation primes mouse liver to oxidative injury. Hepatology 41 (2005) 517-525
44. Irvine A.D., and McLean W.H. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 140 (1999) 815-828
45. Trinh T.T., and Rioux J.D. Understanding association and causality in the genetic studies of inflammatory bowel disease. Gastroenterology 129 (2005) 2106-2110