Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis-Reference-Cited by-同舟云学术

Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis

Published:1998-05-15 Issue:5366 Volume:280 Page:1086-1088
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Howe James R.¹²³⁴⁵,Roth Stina¹²³⁴⁵,Ringold John C.¹²³⁴⁵,Summers Robert W.¹²³⁴⁵,Järvinen Heikki J.¹²³⁴⁵,Sistonen Pertti¹²³⁴⁵,Tomlinson Ian P. M.¹²³⁴⁵,Houlston Richard S.¹²³⁴⁵,Bevan Steve¹²³⁴⁵,Mitros Frank A.¹²³⁴⁵,Stone Edwin M.¹²³⁴⁵,Aaltonen Lauri A.¹²³⁴⁵

Affiliation:

1. J. R. Howe and J. C. Ringold, Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242, USA.

2. S. Roth and L. A. Aaltonen, Department of Medical Genetics, Haartman Institute, FIN-00014, University of Helsinki, Finland.

3. R. W. Summers, Department of Medicine, University of Iowa College of Medicine, Iowa City, IA 52242, USA.

4. H. J. Järvinen, Second Department of Surgery, Helsinki University Central Hospital, Haartmaninkatu 4, 00290 Helsinki, Finland.

5. P. Sistonen, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, 00130 Helsinki, Finland.

Abstract

Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4 ), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor–β signaling pathway. The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference29 articles.

1. Järvinen H. J., Franssila K. O., Gut25, 792 (1984); J. R. Jass, in Familial Adenomatous Polyposis and Other Polyposis Syndromes, R. K. S. Phillips, A. D. Spigelman, J. P. S. Thomson, Eds. (Edward Arnold, London, 1994), pp. 203–214; J. R. Howe, F. A. Mitros, R. W. Summers, in preparation. Estimates of gastrointestinal cancer vary widely because there have been few studies in large families with long-term follow-up.

2. E. D. Lynch, et al., Am. J. Hum. Genet. 61, 1254 (1997); Olschwang S., et al., Nature Genet. 18, 12 (1998).

3. Liaw D., et al., Nature Genet.16, 64 (1997); D. J. Marsh et al.,ibid., p. 333.

4. Marsh D. J., et al., Cancer Res.57, 5017 (1997); G. J. Riggins, S. R. Hamilton, K. W. Kinzler, B. Vogelstein, “Normal PTEN Gene in Juvenile Polyposis,” J. Neg. Obs. Gen. Oncol. [online]1, 1 (1997). Available at http://128.220.85.41:5002/NOGO.

5. Eng C., Ji H., Am. J. Hum. Genet.62, 1020 (1998).

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