Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension

Biochemical and Biophysical Research Communications

Volumn 315, Issue 4, 2004, Pages 1033-1038

  Zhicheng, Jing ^a   Lihe, Lu ^a   Zhiyan, Han ^a   Xiansheng, Cheng ^a   Yubao, Zou ^a   Yuejin, Yang ^a   Rutai, Hui ^a,b  

^a FUWAI HOSPITAL   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

BMPR II; Mutation; Pulmonary hypertension

Indexed keywords

ARGININE; BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; PHOSPHOTRANSFERASE; PYRIMIDINE NUCLEOTIDE; RECEPTOR SUBTYPE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MODIFICATION; ENZYME ACTIVITY; EXON; FAMILIAL DISEASE; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PULMONARY HYPERTENSION; SEGREGATION DISTORTION; SEQUENCE ANALYSIS;

EID: 1342345238     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.01.158     Document Type: Article

References (21)

1. Rubin L.J. Primary pulmonary hypertension. N. Engl. J. Med. 336:1997;111-117.
2. Lane K.B., Machado R.D., Pauciulo M.W., Thomson J.R., Phillips J.A., Loyd J.E., Nichols W.C., Trembath R.C. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension, The International PPH Consortium. Nat. Genet. 26:2000;81-84.
3. Thomson J.R., Machado R.D., Pauciulo M.W., Morgan N.V., Humbert M., Elliott G.C., Ward K., Yacoub M., Mikhail G., Rogers P., Newman J., Wheeler L., Higenbottam T., Gibbs J.S.R., Egan J., Crozier A., Peacock A., Allcock R., Corris P., Loyd J.E., Trembath R.C., Nichols W.C. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family. J. Med. Genet. 37:2000;741-745.
4. Rubin L.J. Primary pulmonary hypertension: ACCP consensus statement. Chest. 104:1993;236-250.
5. Deng Z., Morse J.H., Slager S.L., Cuervo N., Moore K.J., Venetos G., Kalachikov S., Cayanis E., Fischer S.G., Barst R.J., Hodge S.E., Knowles J.A. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am. J. Hum. Genet. 67:2000;737-744.
6. Petipretz P., Brenot F., Azarian R., Parent F., Rain B., Herve P., Simonneau G. Pulmonary hypertension in patients with human immunodeficiency virus infection: comparison with primary pulmonary hypertension. Circulation. 89:1994;2722-2727.
7. Mesa R.A., Edell E.S., Dunn W.F., Edwards W.D. Human immunodeficiency virus infection and pulmonary hypertension: two new cases and a review of 86 reported cases. Mayo. Clin. Proc. 73:1998;37-45.
8. Abenhaim L., Moride Y., Brenot F., Rich S., Benichou J., Kurz X., Higenbottam T., Oakley C., Wouters E., Aubier M., Simonneau G., Begaud B. Appetite-suppressant drugs and the risk of primary pulmonary hypertension, international primary pulmonary hypertension study group. N. Engl. J. Med. 335:1996;609-616.
9. Hogan B.L. Bone morphogenetic proteins: multifunctional regulators of vertebrate development. Genes. Dev. 10:1996;1580-1594.
10. Piek E., Heldin C.H., Dijke P.T. Specificity, diversity, and regulation in TGF-beta superfamily signaling. FASEB J. 13:1999;2105-2124.
11. Massague J., Chen Y.G. Controlling TGF-β signaling. Genes Dev. 14:2000;627-644.
12. Wieser R., Attisano L., Wrana J.L., Massague J. Signaling activity of transforming growth factor beta type II receptors lacking specific domains in the cytoplasmic region. Mol. Cell. Biol. 13:1993;7237-7239.
13. Thomas B., Michael D., Schneider Inactive type II and type I receptors for TGF-β are dominant inhibitors of TGFβ-dependent transcription. J. Biol. Chem. 270:1995;8274-8284.
14. Liu F., Ventura F., Doody J., Massague J. Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. Mol. Cell. Biol. 15:1995;3479-3486.
15. Frisch A., Wright C.V. XBMPRII, a novel Xenopus type II receptor mediating BMP signaling in embryonic tissues. Development. 125:1998;431-442.
16. Ishikawa T., Yoshioka H., Ohuchi H., Noji S., Nohno T. Truncated type II receptor for BMP-4 induces secondary axial structures in Xenopus embryos. Biochem. Biophys. Res. Commun. 216:1995;26-33.
17. Humbert M., Trembath R.C. Genetics of pulmonary hypertension: from bench to bedside. Eur. Respir. J. 20:2002;741-749.
18. Willette R.N., Gu J.L., Lysko P.G., Anderson K.M., Minehart H., Yue T. BMP-2 gene expression and effects on human vascular smooth muscle cells. J. Vasc. Res. 36:1999;120-125.
19. Nakaoka T., Gonda K., Ogita T., Otawara-Hamamoto Y., Okabe F., Kira Y., Harii K., Miyazono K., Takuwa Y., Fujita T. Inhibition of rat vascular smooth muscle proliferation in vitro and in vivo by bone morphogenetic protein-2. J. Clin. Invest. 100:1997;2824-2832.
20. Carcamo J., Zentella A., Massague J. Disruption of transforming growth factor β signaling by a mutation that prevents transphosphorylation within the receptor complex. Mol. Cell. Biol. 15:1995;1573-1581.
21. Loyd J.E., Primin R.K., Newman J.H. Familial primary pulmonary hypertension: clinical patterns. Am. Rev. Respir. Dis. 129:1984;194-197.