Rfx6 directs islet formation and insulin production in mice and humans

Nature

Volumn 463, Issue 7282, 2010, Pages 775-780

  Smith, Stuart B ^a   Qu, Hui Qi ^b   Taleb, Nadine ^b   Kishimoto, Nina Y ^a   Scheel, David W ^a   Lu, Yang ^b   Patch, Ann Marie ^c   Grabs, Rosemary ^b   Wang, Juehu ^a   Lynn, Francis C ^a,l   Miyatsuka, Takeshi ^a   Mitchell, John ^b   Seerke, Rina ^a   Désir, Julie ^d   Eijnden, Serge Vanden ^d   Abramowicz, Marc ^d   Kacet, Nadine ^e   Weill, Jacques ^e   Renard, Marie Éve ^e   Gentile, Mattia ^f   Hansen, Inger ^g   Dewar, Ken ^h   Hattersley, Andrew T ^c   Wang, Rennian ⁱ   Wilson, Maria E ^j   Johnson, Jeffrey D ^j   Polychronakos, Constantin ^b   German, Michael S ^a,k   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

^d ERASME HOSPITAL   (Belgium)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f DI VENERE HOSPITAL   (Italy)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

ⁱ UNIVERSITY OF WESTERN ONTARIO   (Canada)

^j Metabolex Inc   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l UNIVERSITY OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; MESSENGER RNA; NEUROGENIN 3; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RFX6; UNCLASSIFIED DRUG;

BIOCHEMISTRY; DIABETES; EMBRYONIC DEVELOPMENT; GENE EXPRESSION; GENETIC ANALYSIS; HOMEOSTASIS; HOMINID; HORMONE; RODENT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL DIFFERENTIATION; CELL TYPE; DEVELOPMENTAL GENE; DIABETES MELLITUS; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; INSULIN RELEASE; MOUSE; NONHUMAN; PANCREAS ISLET BETA CELL; PANCREATIC POLYPEPTIDE SECRETING CELL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CELL DIFFERENTIATION; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EMBRYO, MAMMALIAN; FEMALE; FETUS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; INSULIN; ISLETS OF LANGERHANS; MALE; MICE; NERVE TISSUE PROTEINS; NIH 3T3 CELLS; ORGAN SPECIFICITY; SYNDROME; TRANSCRIPTION FACTORS;

MUS; VERTEBRATA;

EID: 76749108047     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature08748     Document Type: Article

References (42)

1. Murtaugh, L. C. Pancreas and beta-cell development: from the actual to the possible. Development 134, 427-438 (2007).
2. 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. USA;97:1607-1611:2000.
3. Apelqvist, A., et al. Notch signalling controls pancreatic cell differentiation. Nature 400, 877-881 (1999).
4. Schwitzgebel, V. M., et al. Expression of neurogenin3 reveals an islet cell precursor population in the pancreas. Development 127, 3533-3542 (2000).
5. McCarthy, M. I. & Hattersley, A. T. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 57, 2889-2898 (2008).
6. Miyatsuka, T., Li, Z. & German, M. S. Chronology of islet differentiation revealed by temporal cell labeling. Diabetes 58, 1863-1868 (2009).
7. Gasa, R., et al. Induction of pancreatic islet cell differentiation by the neurogenin-neuroD cascade. Differentiation 76, 381-391 (2008).
8. Aftab, S., Semenec, L., Chu, J. S. & Chen, N. Identification and characterization of novel human tissue-specific RFX transcription factors. BMC Evol. Biol. 8, 226 (2008).
9. Emery, P., Durand, B., Mach, B. & Reith, W. RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res. 24, 803-807 (1996).
10. Lee, C. S., Perreault, N., Brestelli, J. E. & Kaestner, K. H. Neurogenin 3 is essential for the proper specification of gastric enteroendocrine cells and the maintenance of gastric epithelial cell identity. Genes Dev. 16, 1488-1497 (2002).
11. Soriano, P. Generalized lacZ expression with the ROSA26 Cre reporter strain. Nature Genet. 21, 70-71 (1999).
12. Ait-Lounis, A., et al. Novel function of the ciliogenic transcription factor RFX3 in development of the endocrine pancreas. Diabetes 56, 950-959 (2007).
13. Rual, J. F., et al. Towards a proteome-scale map of the human protein-protein interaction network. Nature 437, 1173-1178 (2005).
14. Emery, P., et al. A consensus motif in the RFX DNA binding domain and binding domain mutants with altered specificity. Mol. Cell. Biol. 16, 4486-4494 (1996).
15. Cano, D. A., Sekine, S. & Hebrok, M. Primary cilia deletion in pancreatic epithelial cells results in cyst formation and pancreatitis. Gastroenterology 131, 1856-1869 (2006).
16. Cano, D. A., Murcia, N. S., Pazour, G. J. & Hebrok, M. Orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization. Development 131, 3457-3467 (2004).
17. Mitchell, J., et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 47, 2160-2167 (2004).
18. Chappell, L., et al. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am. J. Med. Genet. A. 146A, 1713-1717 (2008).
19. Liu, X., Yu, X., Zack, D. J., Zhu, H. & Qian, J. TiGER: a database for tissue-specific gene expression and regulation. BMC Bioinformatics 9, 271 (2008).
20. Stefan, Y., Grasso, S., Perrelet, A. & Orci, L. A quantitative immunofluorescent study of the endocrine cell populations in the developing human pancreas. Diabetes 32, 293-301 (1983).
21. Lyttle, B. M., et al. Transcription factor expression in the developing human fetal endocrine pancreas. Diabetologia 51, 1169-1180 (2008).
22. Hodges, E., et al. Genome-wide in situ exon capture for selective resequencing. Nature Genet. 39, 1522-1527 (2007).
23. Karolchik, D., et al. The UCSC Genome Browser Database: 2008 update. Nucleic Acids Res. 36, D773-D779 (2008).
24. Albert, T. J., et al. Direct selection of human genomic loci by microarray hybridization. Nature Methods 4, 903-905 (2007).
25. Gajiwala, K. S., et al. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. Nature 403, 916-921 (2000).
26. Chang, Y. F., Imam, J. S. & Wilkinson, M. F. The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem. 76, 51-74 (2007).
27. Gentile, M. & Fiorente, P. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. Am. J. Med. Genet. 87, 82-83 (1999).
28. Hakonarson, H., et al. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 57, 1143-1146 (2008).
29. Sladek, R., et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007).
30. The Wellcome Trust Case Control Consortium.Genome-wide. association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
31. Wang, J., et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N. Engl. J. Med. 355, 270-280 (2006).
32. Jensen, J., et al. Independent development of pancreatic alpha-and beta-cells from neurogenin3-expressing precursors: a role for the notch pathway in repression of premature differentiation. Diabetes 49, 163-176 (2000).
33. Gu, G., Dubauskaite, J. & Melton, D. A. Direct evidence for the pancreatic lineage: NGN31 cells are islet progenitors and are distinct from duct progenitors. Development 129, 2447-2457 (2002).
34. Cortina, G., et al. Enteroendocrine cell dysgenesis and malabsorption, a histopathologic and immunohistochemical characterization. Hum. Pathol. 38, 570-580 (2007).
35. Jensen, J. N., et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N. Engl. J. Med. 356, 1781-1782; author reply 1782 (2007).
36. Wang, S., et al. Myt1 and Ngn3 form a feed-forward expression loop to promote endocrine islet cell differentiation. Dev. Biol. 317, 531-540 (2008).
37. Copeland, N. G., Jenkins, N. A. & Court, D. L. Recombineering: a powerful new tool for mouse functional genomics. Nature Rev. Genet. 2, 769-779 (2001).
38. Nekrep, N., Wang, J., Miyatsuka, T. & German, M. S. Signals from the neural crest regulate beta-cell mass in the pancreas. Development 135, 2151-2160 (2008).
39. Lynn, F. C., et al. MicroRNA expression is required for pancreatic islet cell genesis in the mouse. Diabetes 56, 2938-2945 (2007).
40. Lynn, F. C., et al. Sox9 coordinates a transcriptional network in pancreatic progenitor cells. Proc. Natl Acad. Sci. USA 104, 10500-10505 (2007).
41. Steemers, F. J. & Gunderson, K. L. Whole genome genotyping technologies on the BeadArray platform. Biotechnol. J. 2, 41-49 (2007).
42. David, E., Garcia, A. D. & Hearing, P. Interaction of EF-C/RFX-1 with the inverted repeat of viral enhancer regions is required for transactivation. J. Biol. Chem. 270, 8353-8360 (1995).