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Disease relevance of Megacolon


High impact information on Megacolon

  • This 1-kb enhancer is activated as the ENS precursors approach the colon, and partial deletion of this enhancer at the endogenous Ednrb locus results in pigmented mice that die postnatally from megacolon [6].
  • Tlx1-deficient and Enx-deficient mice display phenotypes in tissues where the mutated gene is singularly expressed, resulting in asplenogenesis and hyperganglionic megacolon, respectively [7].
  • WS and HSCR are associated in patients with Waardenburg-Shah syndrome (WS4), whose symptoms are reminiscent of the white coat-spotting and aganglionic megacolon displayed by the mouse mutants Dom (Dominant megacolon), piebald-lethal (sl) and lethal spotting (ls) [8].
  • Defects in the gene encoding the endothelin-B receptor produce aganglionic megacolon and pigmentary disorders in mice and humans [9].
  • Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice [10].

Chemical compound and disease context of Megacolon


Biological context of Megacolon


Anatomical context of Megacolon


Gene context of Megacolon

  • WS-HSCR mimicks the megacolon and white coat-spotting observed in Ednrb mouse mutants [25].
  • Mice that are homozygous for a null mutation in the Ednrb gene are almost completely white and die as juveniles from megacolon [26].
  • Inactivation of both Foxf2 alleles, or one allele each of Foxf1 and Foxf2, cause a range of defects, including megacolon, colorectal muscle hypoplasia and agangliosis [27].
  • The mutation, called dominant megacolon, symbol Dom, is located on chromosome (chr) 15, 20.6 +/- 1.6 units proximal to Ca [28].
  • Second, they found that disruption of the ET-3 peptide and ETB receptor genes result in homozygous mice that share identical phenotypic traits (i.e., coloration changes and aganglionic megacolon) which are similar to a previously known natural mutation, the Piebald-Lethal mouse (Hosoda et al., 1994; Baynash et al., 1994) [29].


  1. Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon. Shirasawa, S., Yunker, A.M., Roth, K.A., Brown, G.A., Horning, S., Korsmeyer, S.J. Nat. Med. (1997) [Pubmed]
  2. Enteric nerves and interstitial cells of Cajal are altered in patients with slow-transit constipation and megacolon. Wedel, T., Spiegler, J., Soellner, S., Roblick, U.J., Schiedeck, T.H., Bruch, H.P., Krammer, H.J. Gastroenterology (2002) [Pubmed]
  3. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Herbarth, B., Pingault, V., Bondurand, N., Kuhlbrodt, K., Hermans-Borgmeyer, I., Puliti, A., Lemort, N., Goossens, M., Wegner, M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. Hirschsprung disease, postaxial polydactyly, and atrial septal defect. Nowaczyk, M.J., James, A.G., Superina, R., Siegel-Bartelt, J. Am. J. Med. Genet. (1997) [Pubmed]
  5. Effect of pentagastrin on the motor activity of the dilated and nondilated sigmoid and rectum in Chagas' disease. Meneghelli, U.G., Godoy, R.A., Oliveira, R.B., Santos, J.C., Dantas, R.O., Troncon, L.E. Digestion (1983) [Pubmed]
  6. Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Zhu, L., Lee, H.O., Jordan, C.S., Cantrell, V.A., Southard-Smith, E.M., Shin, M.K. Nat. Genet. (2004) [Pubmed]
  7. Rnx deficiency results in congenital central hypoventilation. Shirasawa, S., Arata, A., Onimaru, H., Roth, K.A., Brown, G.A., Horning, S., Arata, S., Okumura, K., Sasazuki, T., Korsmeyer, S.J. Nat. Genet. (2000) [Pubmed]
  8. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Pingault, V., Bondurand, N., Kuhlbrodt, K., Goerich, D.E., Préhu, M.O., Puliti, A., Herbarth, B., Hermans-Borgmeyer, I., Legius, E., Matthijs, G., Amiel, J., Lyonnet, S., Ceccherini, I., Romeo, G., Smith, J.C., Read, A.P., Wegner, M., Goossens, M. Nat. Genet. (1998) [Pubmed]
  9. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Baynash, A.G., Hosoda, K., Giaid, A., Richardson, J.A., Emoto, N., Hammer, R.E., Yanagisawa, M. Cell (1994) [Pubmed]
  10. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Hosoda, K., Hammer, R.E., Richardson, J.A., Baynash, A.G., Cheung, J.C., Giaid, A., Yanagisawa, M. Cell (1994) [Pubmed]
  11. Toxic megacolon due to ischemic enterocolitis associated with retroperitoneal fibrosis. Robertson, R.H., McDowell, H.A., Jander, H.P., Groarke, J.F. Gastroenterology (1980) [Pubmed]
  12. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Bondurand, N., Pingault, V., Goerich, D.E., Lemort, N., Sock, E., Caignec, C.L., Wegner, M., Goossens, M. Hum. Mol. Genet. (2000) [Pubmed]
  13. Lower oesophageal sphincter response to pentagastrin in chagasic patients with megaoesophagus and megacolon. Padovan, W., Godoy, R.A., Dantas, R.O., Meneghelli, U.G., Oliveira, R.B., Troncon, L.E. Gut (1980) [Pubmed]
  14. Loss of interstitial cells and a fibromuscular layer on the luminal side of the colonic circular muscle presenting as megacolon in an adult patient. Faussone-Pellegrini, M.S., Fociani, P., Buffa, R., Basilisco, G. Gut (1999) [Pubmed]
  15. The relationship between megacolon and carcinoma of the colon: an experimental approach. Garcia, S.B., Oliveira, J.S., Pinto, L.Z., Muccillo, G., Zucoloto, S. Carcinogenesis (1996) [Pubmed]
  16. Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. Geneste, O., Bidaud, C., De Vita, G., Hofstra, R.M., Tartare-Deckert, S., Buys, C.H., Lenoir, G.M., Santoro, M., Billaud, M. Hum. Mol. Genet. (1999) [Pubmed]
  17. A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus. Puliti, A., Prehu, M.O., Simon-Chazottes, D., Ferkdadji, L., Peuchmaur, M., Goossens, M., Guénet, J.L. Mamm. Genome (1995) [Pubmed]
  18. Jejunal transport properties of piebald mouse model for Hirschsprung's disease. Cooke, H.J., Henning, H.J., Wood, J.D., Cooke, A.R. Am. J. Physiol. (1980) [Pubmed]
  19. Sequence variability of human cytomegalovirus UL144 open reading frame in low-passage clinical isolates. He, R., Ruan, Q., Xia, C., Liu, L.Q., Lü, S.M., Lu, Y., Qi, Y., Ma, Y.P., Liu, Q., Ji, Y.H. Chin. Med. Sci. J. (2004) [Pubmed]
  20. Hirschsprung disease, associated syndromes, and genetics: a review. Amiel, J., Lyonnet, S. J. Med. Genet. (2001) [Pubmed]
  21. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. Kuhlbrodt, K., Schmidt, C., Sock, E., Pingault, V., Bondurand, N., Goossens, M., Wegner, M. J. Biol. Chem. (1998) [Pubmed]
  22. Nitric oxide production is diminished in colonic circular muscle from acquired megacolon. Koch, T.R., Otterson, M.F., Telford, G.L. Dis. Colon Rectum (2000) [Pubmed]
  23. Additional case of craniofacial and digital anomalies as reported by Harrod et al. Jurenka, S.B., Van Allen, M.I. Am. J. Med. Genet. (1996) [Pubmed]
  24. A case of malignant syndrome associated with a parkinsonism patient. Sanga, M., Nomura, S. Nihon shinkei seishin yakurigaku zasshi = Japanese journal of psychopharmacology. (2003) [Pubmed]
  25. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Edery, P., Attié, T., Amiel, J., Pelet, A., Eng, C., Hofstra, R.M., Martelli, H., Bidaud, C., Munnich, A., Lyonnet, S. Nat. Genet. (1996) [Pubmed]
  26. The temporal requirement for endothelin receptor-B signalling during neural crest development. Shin, M.K., Levorse, J.M., Ingram, R.S., Tilghman, S.M. Nature (1999) [Pubmed]
  27. Foxf1 and Foxf2 control murine gut development by limiting mesenchymal Wnt signaling and promoting extracellular matrix production. Ormestad, M., Astorga, J., Landgren, H., Wang, T., Johansson, B.R., Miura, N., Carlsson, P. Development (2006) [Pubmed]
  28. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. Lane, P.W., Liu, H.M. J. Hered. (1984) [Pubmed]
  29. Endothelin receptor antagonism. Opgenorth, T.J. Adv. Pharmacol. (1995) [Pubmed]
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