Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence (original) (raw)

References

  1. Miller, C.P., McGehee, R. & Habener, J.F. IDX-1: a new homeodomain transcription factor expressed in rat pancreatic islets and duodenum that transactivates the somatostatin gene. EMBO J. 13, 1145–1156 (1994).
    Article CAS Google Scholar
  2. Leonard, J. et al. Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pnacreatic islet cells. Mol. Endocr. 7, 1275–1283 (1993).
    CAS Google Scholar
  3. Ohlsson, H., Karlsson, K. & Edlund, T. IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J. 12, 4251–4259 (1993).
    Article CAS Google Scholar
  4. Jonnson, J., Carlsson, L., Edlund, T. & Edlund, H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371, 606–609 (1994).
    Article Google Scholar
  5. Peshavaria, M. et al. XIHBox 8, an endoderm-specific Xenopus homeodomain protein, is closely related to a mammalian insulin gene transcription factor. Mol. Endocr. 8, 806–816 (1994).
    CAS Google Scholar
  6. Peers, B., Leonard, J., Sharma, S., Teitelman, G. & Montminy, M. Insulin expression in pancreatic islet cells relies on cooperative interactions between the helix loop helix factor E47 and the homeobox factor STF-1. Mol. Endocr. 8, 1798–1806 (1994).
    CAS Google Scholar
  7. Offield, M.F. et al. PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. Development 122, 983–995 (1996).
    CAS Google Scholar
  8. Wright, N.M., Metzger, D.L., Borowitz, S.M. & Clarke, W.L. Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. Am. J. Dis. Child. 147, 607–609 (1993).
    Article CAS Google Scholar
  9. Howard, C.P. et al. Long-term survival in a case of functional pancreatic agenesis. J. Pediat. 97, 786–789.(1980).
    Article CAS Google Scholar
  10. Widnes, J.A. et al. Permanent neonatal diabetes in an infant of an insulin-dependent mother. J. Pediat. 100, 926 (1982).
    Article Google Scholar
  11. Lemons, J.A., Ridenour, R. & Orsini, E.N. Congenital absence of the pancreas and intrauterine growth retardation. Pediatrics 64, 255–257.(1979).
    CAS PubMed Google Scholar
  12. Mehes, K. & Vamosk, G.M. Agenesis of pancreas and gallbladder in infant of incest. Acta Paediat. Acad. Sci. Hung. 17, 175–176 (1976).
    CAS PubMed Google Scholar
  13. Dourov, N. & Buyl-Strouvens, M.L. Agensie du pancreas. Arch. Fr. Pediat. 26, 641–650 (1969).
    CAS PubMed Google Scholar
  14. Sherwood, W.G., Chance, G.W. & Hill, D.E. A new syndrome of pancreatic agenesis. The role of insulin and glucagon in somatic and cell growth. Pediat Res. 8, 360 (1995).
    Article Google Scholar
  15. Stoffel, M. et al. Localization of human homeodomain transcription factor insulin promoter factor (IPF-1) to chromosome band 13q 12.1. Genomics 28, 125–126.
    Article CAS Google Scholar
  16. Inoue, H. et al. Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) Gene. Diabetes 45, 789–794 (1996).
    Article CAS Google Scholar
  17. Peers, B., Sharma, S., Johnson, T., Kamps, M. & Montminy, M. The pancreatic islet factor STF-1 binds cooperatively with Pbx to regulatory element in the somatostatin promoter: importance of the FPWMK motif and of the homeodomain. Mol. Cell. Biol. 15, 7091–7097 (1995).
    Article CAS Google Scholar
  18. Lu, M., Miller, C.P. & Habener, J.F. Functional regions of the homeodomain protein IDX-1 required for transactivation of the rat somatostatin gene. Endocrinology 137, 2959–2967 (1996).
    Article CAS Google Scholar
  19. Carroll, P.B., Finegold, D.N., Becker, D.J., Locker, J.D. & Drash, A.L. Hypoplasia of the pancreas in a patient with type I diabetes mellitus. Pancreas 7, 21–25 (1992).
    Article CAS Google Scholar
  20. Dodge, J.A. & Laurence, K.M. Congenital absence of the islets of Langerhans. Arch. Dis. Child. 52, 411–413 (1977).
    Article CAS Google Scholar
  21. Winter, W.E. et al. Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency. J. Pediat. 109, 465–468 (1986).
    Article CAS Google Scholar
  22. Sharma, A., Olson, L.K., Robertson, R.P. & Stein, R. The reduction of insulin gene transcription in HIT-T15 β cells chronically exposed to high glucose concentration is associated with the loss of RIPE3b1 and STF-1 transcription factor expression. Molec. Endocr. 9, 1127–1134 (1995).
    CAS PubMed Google Scholar
  23. Olson, L.K. et al. Reduction of insulin gene transcription in HIT-T15 β cells chronically exposed to high glucose concentration is associated with the loss of STF-1 transcription factor expression. Proc. Natl. Acad. Sci. U.S.A. 92, 9127–9131 (1995).
    Article CAS Google Scholar
  24. Sambrook, J., Fritsch, E.F. & Maniatis, T., Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
    Google Scholar
  25. Wood, W.I., Gtischier, J., Lasky, L.A. & Lawn, R.M. Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc. Natl. Acad. Sci. USA 82, 1585–1588 (1985).
    Article CAS Google Scholar
  26. Chen, W.-J., Andes, D.A., Goldstein, J.L., Russel, D.W. & Brown, M.S. cDNA cloning and expression of the peptide-binding (3 subunit of rat p21ras farnesyl transferase, the counterpart of yeast DPR17RAM1. Cell 66, 327–334 (1991).
    Article CAS Google Scholar
  27. Ausubel, F.M. et al. Current Protocols in Molecular Biology (John Wiley & Sons, New York, 1995).
  28. Schreiber, E., Matthias, P., Mueller, M.M. & Schaffner, W. Rapid detection of octamer binding proteins with “miniextracts” from a small number of cells. Nucl. Acid. Res. 17, 6419 (1989).
    Article CAS Google Scholar
  29. Ron, D. & Habener, J.F. CHOP, a novel developmentally regulated nuclear protein that dimerizes with transcription factors C/EBP and LAP and functions as a dominant-negative inhibitor of gene transcription. Genes Dev. 6, 439–453 (1992).
    Article CAS Google Scholar

Download references