Functional consequences of EpCam mutation in mice and men

American Journal of Physiology - Gastrointestinal and Liver Physiology

Volumn 306, Issue 4, 2014, Pages

  Mueller, James L ^a,b   McGeough, Matthew D ^a   Peña, Carla A ^a   Sivagnanam, Mamata ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

Author keywords

Chronic diarrhea; Congenital tufting enteropathy; EpCam; Intestinal failure; Mouse model

Indexed keywords

CHRONIC DIARRHEA; CONGENITAL TUFTING ENTEROPATHY; EPCAM; INTESTINAL FAILURE; MOUSE MODEL;

ANIMALS; ANTIGENS, NEOPLASM; CASE-CONTROL STUDIES; CELL ADHESION MOLECULES; CELL MOVEMENT; CELL PROLIFERATION; CLAUDINS; DIARRHEA, INFANTILE; DISEASE MODELS, ANIMAL; EXONS; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; INTESTINAL ABSORPTION; INTESTINAL MUCOSA; INTESTINES; MALABSORPTION SYNDROMES; MICE; MICE, KNOCKOUT; MUTATION; PERMEABILITY; PHENOTYPE; TRANSFECTION;

EID: 84894063293     PISSN: 01931857     EISSN: 15221547     Source Type: Journal    
DOI: 10.1152/ajpgi.00286.2013     Document Type: Article

References (35)

1. Al-Mayouf SM, Alswaied N, Alkuraya FS, Almehaidib A, Faqih M. Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J Pediatr Gastroenterol Nutr 49: 642-644, 2009.
2. Balzar M, Winter M, De Boer C. The biology of the 17-1A antigen (Ep-CAM). J Mol Med 77: 699-712, 1999.
3. Balzar M, Winter MJ, de Boer CJ, Litvinov SV. The biology of the 17-1A antigen (Ep-CAM). J Mol Med 77: 699-712, 1999.
4. Basak S, Speicher D, Eck S, Wunner W, Maul G, Simmons MS, Herlyn D. Colorectal carcinoma invasion inhibition by CO17-1A/GA733 antigen and its murine homologue. J Natl Cancer Inst 90: 691-697, 1998.
5. Beck NS, Kang IS, Suh YL. Protracted diarrhea: results of the five-year survey in a tertiary hospital in Korea. J Korean Med Sci 16: 736-741, 2001.
6. Bergsagel PL, Victor-Kobrin C, Timblin CR, Trepel J, Kuehl W. A murine cDNA encodes a pan-epithelial glycoprotein that is also expressed on plasma cells. J Immunol 148: 590-596, 1992.
7. Chaves-Perez A, Mack B, Maetzel D, Kremling H, Eggert C, Harrus U, Gires O. EpCAM regulates cell cycle progression via control of cyclin D1 expression. Oncogene 32: 641-650, 2013.
8. Cirulli V, Ricordi C, Hayek A. E-cadherin, NCAM, and EpCAM expression in human fetal pancreata. Transplant Proc 27: 3335, 1995.
9. Ding L, Lu Z, Foreman O, Tatum R, Lu Q, Renegar R, Cao J, Chen YH. Inflammation and disruption of the mucosal architecture in claudin-7-deficient mice. Gastroenterology 142: 305-315, 2012.
10. Gaiser MR, Lammermann T, Feng X, Igyarto BZ, Kaplan DH, Tessarollo L, Germain RN, Udey MC. Cancer-associated epithelial cell adhesion molecule (EpCAM; CD326) enables epidermal Langerhans cell motility and migration in vivo. Proc Natl Acad Sci USA 109: E889-E897, 2012.
11. Gambarara M, Diamanti A, Ferretti F, Papadatou B, Knafelz D, Pietrobattista A, Castro M. Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: outcome of four cases. Transplant Proc 35: 3052-3053, 2003.
12. Gonzalez B, Denzel S, Mack B, Conrad M, Gires O. EpCAM is involved in maintenance of the murine embryonic stem cell phenotype. Stem Cells 27: 1782-1791, 2009.
13. Goulet O, Kedinger M, Brousse N, Cuenod B, Colomb V, Patey N, de Potter S, Mougenot JF, Canioni D, Cerf-Bensussan N. Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. J Pediatr 127: 212-219, 1995.
14. Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis 2: 20, 2007.
15. Guerra E, Lattanzio R, La Sorda R, Dini F, Tiboni GM, Piantelli M, Alberti S. mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/B-catenin. PloS One 7: e49302, 2012.
16. Jeppesen PB, Langholz E, Mortensen PB. Quality of life in patients receiving home parenteral nutrition. Gut 44: 844-852, 1999.
17. Ko JS, Seo JK, Shim JO, Hwang SH, Park HS, Kang GH. Tufting enteropathy with EpCAM mutations in two siblings. Gut Liver 4: 407-410, 2010.
18. Ladwein M, Pape UF, Schmidt DS, Schnolzer M, Fiedler S, Langbein L, Franke WW, Moldenhauer G, Zoller M. The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7. Exp Cell Res 309: 345-357, 2005.
19. Lakso M, Pichel JG, Gorman JR, Sauer B, Okamoto Y, Lee E, Alt FW, Westphal H. Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc Natl Acad Sci USA 93: 5860-5865, 1996.
20. Lei Z, Maeda T, Tamura A, Nakamura T, Yamazaki Y, Shiratori H, Yashiro K, Tsukita S, Hamada H. EpCAM contributes to formation of functional tight junction in the intestinal epithelium by recruiting claudin proteins. Dev Biol 371: 136-145, 2012.
21. Liang X, Zhou Q, Li X, Sun Y, Lu M, Dalton N, Ross J Jr, Chen J. PINCH1 plays an essential role in early murine embryonic development but is dispensable in ventricular cardiomyocytes. Mol Cell Biol 25: 3056-3062, 2005.
22. Moolenbeek C, Ruitenberg E. The Swiss roll: a simple technique for histological studies of the rodent intestine. Lab Anim 15: 57-59, 1981.
23. Munz M, Baeuerle PA, Gires O. The emerging role of EpCAM in cancer and stem cell signaling. Cancer Res 69: 5627, 2009.
24. Munz M, Kieu C, Mack B, Schmitt B, Zeidler R, Gires O. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. Oncogene 23: 5748-5758, 2004.
25. Nagao K, Zhu J, Heneghan MB, Hanson JC, Morasso MI, Tessarollo L, Mackem S, Udey MC. Abnormal placental development and early embryonic lethality in EpCAM-null mice. PLoS One 4: e8543, 2009.
26. Paramesh AS, Fishbein T, Tschernia A, Leleiko N, Magid MS, Gondolesi GE, Kaufman SS. Isolated small bowel transplantation for tufting enteropathy. J Pediatr Gastroenterol Nutr 36: 138-140, 2003.
27. Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N. A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf. Eur J Med Genet 54: 319-322, 2011.
28. Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. Absence of cell surface EpCAM in congenital tufting enteropathy. Hum Mol Genet 22: 2566-2571, 2013.
29. Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38: 16-26, 2004.
30. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 135: 429-437, 2008.
31. Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. Further evidence for EpCAM as the gene for congenital tufting enteropathy. Am J Med Genet A 152A: 222-224, 2010.
32. Slanchev K, Carney TJ, Stemmler MP, Koschorz B, Amsterdam A, Schwarz H, Hammerschmidt M. The epithelial cell adhesion molecule EpCAM is required for epithelial morphogenesis and integrity during zebrafish epiboly and skin development. PLoS Genet 5: e1000563, 2009.
33. Villablanca EJ, Renucci A, Sapde D, Lec Vr Soubiran F, Sandoval PC, Dambly, Chaudire C, Ghysen A, Allende ML. Control of cell migration in the zebrafish lateral line: Implication of the gene "tumourassociated calcium signal transducer, " tacstd. Dev Dyn 235: 1578-1588, 2006.
34. Wang Q, Fang CH, Hasselgren PO. Intestinal permeability is reduced and IL-10 levels are increased in septic IL-6 knockout mice. Am J Physiol Regul Integr Comp Physiol 281: R1013-R1023, 2001.
35. Zhang H, Malo C, Buddington RK. Suckling induces rapid intestinal growth and changes in brush border digestive functions of newborn pigs. J Nutr 127: 418-426, 1997.