Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 106-110

  Stoffers, Doris A ^a   Zinkin, Noah T ^a   Stanojevic, Violeta ^a   Clarke, William L ^b   Habener, Joel F ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN;

AGENESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CODON; DELETION MUTANT; DNA BINDING; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PANCREAS; POINT MUTATION; PRIORITY JOURNAL; TRANSGENIC MOUSE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; CODON; COS CELLS; CYTOSINE; DNA; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; PANCREAS; PEDIGREE; POINT MUTATION; RECOMBINANT FUSION PROTEINS; SEQUENCE DELETION; TRANS-ACTIVATORS;

EID: 0031031571     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-106     Document Type: Article

References (29)

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).
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).
3. Ohlsson, H., Karlsson, K. & Edlund, T. IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J. 12, 4251-4259 (1993).
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).
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).
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).
7. Offield, M.F. et al. PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. Development 122, 983-995 (1996).
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).
9. Howard, C.P. et al. (1980) Long-term survival in a case of functional pancreatic agenesis. J. Pediat. 97, 786-789.
10. Widnes, J.A. et al. Permanent neonatal diabetes in an infant of an insulin-dependent mother. J. Pediat. 100, 926 (1982).
11. Lemons, J.A., Ridenour, R. & Orsini, E.N. (1979) Congenital absence of the pancreas and intrauterine growth retardation. Pediatrics 64, 255-257.
12. Mehes, K. & Vamosk, G.M. Agenesis of pancreas and gallbladder in infant of incest. Acta Paediat. Acad. Sci. Hung. 17, 175-176 (1976).
13. Dourov, N. & Buyl-Strouvens, M.L. Agensie du pancreas. Arch. Fr. Pediat. 26, 641-650 (1969).
14. Sherwood, W.G., Chance, G.W. & Hill, D.E. (1974) A new syndrome of pancreatic agenesis. The role of insulin and glucagon in somatic and cell growth. Pediat. Res. 8, 360 (1995).
15. Stoffel, M. et al. Localization of human homeodomain transcription factor insulin promoter factor (IPF-1) to chromosome band 13q12.1. Genomics 28, 125-126.
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).
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).
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).
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).
20. Dodge, J.A. & Laurence, K.M. Congenital absence of the islets of Langerhans. Arch. Dis. Child. 52, 411-413 (1977).
21. Winter, W.E. et al. Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency. J. Pediat 109, 465-468 (1986).
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).
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).
24. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
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).
26. ras farnesyl transferase, the counterpart of yeast DPR1/RAM1. Cell 66, 327-334 (1991).
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).
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).