Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling

Journal of Surgical Research

Volumn 174, Issue 2, 2012, Pages 211-214

  Carr, Jennifer C ^a   Dahdaleh, Fadi S ^a   Wang, Donghong ^a   Howe, James R ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

bone morphogenetic protein (BMP); juvenile polyposis; SMAD4

Indexed keywords

BONE MORPHOGENETIC PROTEIN; LUCIFERASE; SMAD4 PROTEIN;

ADOLESCENT DISEASE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; EXPRESSION VECTOR; GENE MUTATION; GENETIC TRANSFECTION; GERMLINE MUTATION; HUMAN; HUMAN CELL; JUVENILE POLYPOSIS; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; POLYPOSIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; WILD TYPE;

BONE MORPHOGENETIC PROTEINS; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; INTESTINAL POLYPOSIS; SIGNAL TRANSDUCTION; SMAD4 PROTEIN;

EID: 84862827373     PISSN: 00224804     EISSN: 10958673     Source Type: Journal    
DOI: 10.1016/j.jss.2011.11.008     Document Type: Article

References (22)

1. Burt RW, Bishop DT, Lynch HT, et al. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ 1990;68:655.
2. Jass J. Pathology of polyposis syndromes with special reference to juvenile polyposis. In: Utsonomiya JL, Lynch HT, Eds. Hereditary colorectal cancer. Tokyo: SpringerVerlag, 1990:343-50.
3. Howe JR. Juvenile polyposis syndrome. In: Scriver CR, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, Eds. The metabolic and molecular bases of inherited disease. New York: McGraw- Hill, 2001:805-18.
4. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986;10:871.
5. van Hattem WA, Brosens LA, de Leng WW, et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008;57:623.
6. Howe JR, Ringold JC, Summers RW, et al. A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am J Hum Genet 1998;62:1129.
7. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/ DPC4 gene in juvenile polyposis. Science 1998;280:1086.
8. Howe JR, Bair JL, Sayed MG, et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001;28:184.
9. Calva-Cerqueira D, Chinnathambi S, Pechman B, et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet 2009;75:79.
10. Korchynskyi O, ten Dijke P. Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter. J Biol Chem 2002;277:4883.
11. Chen YG, Lui HM, Lin SL, et al. Regulation of Cell Proliferation, Apoptosis, and Carcinogenesis by Activin. Exp Biol Med (Maywood) 2002;227:75.
12. Massague J. TGF-β signal transduction. Annu Rev Biochem 1998;67:753.
13. Urist MR. Bone: Formation by autoinduction. Science 1965; 150:893.
14. ten Dijke P, Korchynskyi O, Valdimarsdottir G, et al. Controlling cell fate by bone morphogenetic protein receptors. Mol Cell Endocrinol 2003;211:105.
15. Blanco CalvoM, Bolos Fernandez V,Medina Villaamil V, et al. Biology of BMP signalling andcancer. Clin Transl Oncol 2009;11:126.
16. Thawani JP, Wang AC, Than KD, et al. Bone morphogenetic proteins and cancer: Review of the literature. Neurosurgery 2010; 66:233.
17. Hay ED. An overview of epithelio-mesenchymal transformation. Acta Anat (Basel) 1995;154:8.
18. Logeart-Avramoglou D, Bourguignon M, Oudina K, et al. An assay for the determination of biologically active bone morphogenetic proteins using cells transfected with an inhibitor of differentiation promoter-luciferase construct. Anal Biochem 2006;349:78.
19. Otani H, Otsuka F, Inagaki K, et al. Aldosterone breakthrough caused by chronic blockage of angiotensin II type 1 receptors in human adrenocortical cells: Possible involvement of bone morphogenetic protein-6 actions. Endocrinology 2008;149:2816.
20. Korupolu RV, Muenster U, Read J, et al. Activin A/bone morphogenetic protein (BMP) chimeras exhibit BMP-like activity and antagonize activin and myostatin. J Biol Chem 2008;283:3782.
21. Jang WG, Kim EJ, Lee KN, et al. AMP-activated protein kinase (AMPK) positively regulates osteoblast differentiation via induction of Dlx5-dependent Runx2 expression in MC3T3E1 cells. Biochem Biophys Res Commun 2011;404:1004.
22. Moren A, Itoh S, Moustakas A, et al. Functional consequences of tumorigenic missense mutations in the amino-terminal domain of Smad4. Oncogene 2000;19:4396.