Mutant Neurogenin-3 in congenital malabsorptive diarrhea

New England Journal of Medicine

Volumn 355, Issue 3, 2006, Pages 270-280

  Wang, Jiafang ^a   Cortina, Galen ^b   Wu, S Vincent ^c   Tran, Robert ^a   Cho, Jang Hyeon ^d   Tsai, Ming Jer ^d   Bailey, Travis J ^d   Jamrich, Milan ^d   Ament, Marvin E ^a   Treem, William R ^e   Hill, Ivor D ^f   Vargas, Jorge H ^a   Gershman, George ^c   Farmer, Douglas G ^c   Reyen, Laurie ^c   Martín, Martín G ^a,c  

^a MATTEL CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e SUNY Downstate Medical Center   (United States)

^f WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOGRANIN A; COLESTYRAMINE; GENOMIC DNA; LOPERAMIDE; MESSENGER RNA; NEUROGENIC DIFFERENTIATION FACTOR; PANCREAS ENZYME; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NEUROGENIN 3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; DIARRHEA; DNA SCREENING; DOWNSTREAM PROCESSING; E BOX ELEMENT; EMBRYO; GENE EXPRESSION; GENE FUNCTION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GOBLET CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; INTESTINE BIOPSY; INTESTINE CELL; INTESTINE RESECTION; MALABSORPTION; MALE; NONHUMAN; PANETH CELL; PARENTERAL NUTRITION; PRIORITY JOURNAL; STEM CELL; TRANSACTIVATION; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHRONIC DISEASE; DIARRHEA; ENTEROENDOCRINE CELLS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; INTESTINE, SMALL; MALABSORPTION SYNDROMES; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PROMOTER REGIONS (GENETICS);

EID: 33746093870     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa054288     Document Type: Article

References (32)

1. Martin MG, Wright EM. Congenital intestinal transport defects. In: Walker WA, Goulet O, Kliegman RM, Sherman PM, Shneider BL, Sanderson IR, eds. Pediatric gastrointestinal disease. Hamilton, Ont., Canada: B.C. Decker, 2004:898-921.
2. Martin MG, Turk E, Lostao MP, Kerner C, Wright EM. Defects in Na+/glucose co-transporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 1996;12:216-20.
3. Gradwohl G, Dierich A, LeMeur M, Guillemot F. Neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas. Proc Natl Acad Sci U S A 2000;97:1607-11.
4. Lee CS, Perreault N, Brestelli JE, Kaestner KH. Neurogenin 3 is essential for the proper specification of gastric enteroendocrine cells and the maintenance of gastric epithelial cell identity. Genes Dev 2002;16:1488-97.
5. Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science 2001;294:2155-8.
6. Jenny M, Uhl C, Roche C, et al. Neurogenin3 is differentially required for endocrine cell fate specification in the intestinal and gastric epithelium. EMBO J 2002;21:6338-47.
7. Ma Q, Kintner C, Anderson DJ. Identification of neurogenin, a vertebrate neuronal determination gene. Cell 1996;87:43-52.
8. Huang HP, Liu M, El Hodiri HM, Chu K, Jamrich M, Tsai MJ. Regulation of the pancreatic islet-specific gene BETA2 (neuroD) by neurogenin 3. Mol Cell Biol 2000;20:3292-307.
9. Lai EC. Notch signaling: control of cell communication and cell fate. Development 2004;131:965-73.
10. Sternberg PW. Lateral inhibition during vulval induction in Caenorhabditis elegans. Nature 1988;335:551-4.
11. van Es JH, van Gijn ME, Riccio O, et al. Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. Nature 2005;435:959-63.
12. Fre S, Huyghe M, Mourikis P, Robine S, Louvard D, Artavanis-Tsakonas S. Notch signals control the fate of immature progenitor cells in the intestine. Nature 2005;435:964-8.
13. Jensen J, Pedersen EE, Galante P, et al. Control of endodermal endocrine development by Hes-1. Nat Genet 2000;24:36-44.
14. Schonhoff SE, Giel-Moloney M, Leiter AB. Minireview: development and differentiation of gut endocrine cells. Endocrinology 2004;145:2639-44.
15. Naya FJ, Huang HP, Qiu Y, et al. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes Dev 1997;11:2323-34.
16. Ahlgren U, Jonsson J, Edlund H. The morphogenesis of the pancreatic mesenchyme is uncoupled from that of the pancreatic epithelium in IPF1/PDX1-deficient mice. Development 1996;122:1409-16.
17. Schonhoff S, Baggio L, Ratineau C, et al. Energy homeostasis and gastrointestinal endocrine differentiation do not require the anorectic hormone peptide YY. Mol Cell Biol 2005;25:4189-99.
18. Scrocchi LA, Brown TJ, MacLusky N, et al. Glucose intolerance but normal satiety in mice with a null mutation in the glucagon-like peptide 1 receptor gene. Nat Med 1996;2:1254-8.
19. Hogenauer C, Meyer RL, Netto GJ, et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I. N Engl J Med 2001;344:270-4.
20. Jackson RS, Creemers JW, Farooqi IS, et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 2003;112:1550-60.
21. Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997;16:303-6.
22. Mei N. Intestinal chemosensitivity. Physiol Rev 1985;65:211-37.
23. Wu SV, Rozengurt N, Yang M, Young SH, Sinnett-Smith J, Rozengurt E. Expression of bitter taste receptors of the T2R family in the gastrointestinal tract and enteroendocrine STC-1 cells. Proc Natl Acad Sci U S A 2002;99:2392-7.
24. Hirasawa A, Tsumaya K, Awaji T, et al. Free fatty acids regulate gut incretin glucagon-like peptide-1 secretion through GPR120. Nat Med 2005;11:90-4.
25. Diez-Sampedro A, Hirayama BA, Osswald C, et al. A glucose sensor hiding in a family of transporters. Proc Natl Acad Sci U S A 2003;100:11753-8.
26. Lin HC, Zhao XT, Wang L, Wong H. Fat-induced ileal brake in the dog depends on peptide YY. Gastroenterology 1996;110:1491-5.
27. Gershon MD. Nerves, reflexes, and the enteric nervous system: pathogenesis of the irritable bowel syndrome. J Clin Gastroenterol 2005;39:Suppl 5:S184-S193.
28. Martin MG, Wang JF, Solorzano-Vargas RS, Lam JT, Turk E, Wright EM. Regulation of the human Na(+)-glucose cotransporter gene, SGLT1, by HNF-1 and Sp1. Am J Physiol Gastrointest Liver Physiol 2000;278:G591-G603.
29. Smith SB, Gasa R, Watada H, Wang J, Griffen SC, German MS. Neurogenin3 and hepatic nuclear factor 1 cooperate in activating pancreatic expression of Pax4. J Biol Chem 2003;278:38254-9.
30. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-80.
31. del Bosque-Plata L, Lin J, Horikawa Y, et al. Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes 2001;50:694-6.
32. Drossman DA, Camilleri M, Mayer EA, Whitehead WE. AGA technical review on irritable bowel syndrome. Gastroenterology 2002;123:2108-31.