Functional analysis of mutations in the kinase domain of the TGF-β receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia

Blood

Volumn 107, Issue 5, 2006, Pages 1951-1954

  Gu, Yi ^b   Jin, Peng ^b   Zhang, Long ^b   Zhao, Xingang ^b   Gao, Xia ^b   Ning, Yuanheng ^b   Meng, Anming ^b   Chen, Ye Guang ^a  

^a TSINGHUA UNIVERSITY   (China)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1;

ALLELE; ARTICLE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; ENDOTHELIUM; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MAMMAL CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; RENDU OSLER WEBER DISEASE;

EID: 33344466368     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-05-1834     Document Type: Article

References (24)

1. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918-924.
2. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189-195.
3. Attisano L, Carcamo J, Ventura F, Weis FM, Massague J, Wrana JL. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell. 1993;75:671-680.
4. Goumans MJ, Valdimarsdottir G, Itoh S, Rosendahl A, Sideras P, ten Dijke P. Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors. EMBO J. 2002;21:1743-1753.
5. Goumans MJ, Valdimarsdottir G, Itoh S, et al. Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell. 2003;12:817-828.
6. Oh SP, Seki T, Goss KA, et al. Activin receptorlike kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A. 2000;97:2626-2631.
7. Chen YG, Massague J. Smad1 recognition and activation by the ALK1 group of transforming growth factor-beta family receptors. J Biol Chem. 1999;274:3672-3677.
8. Urness LD, Sorensen LK, Li DY. Arteriovenous malformations in mice lacking activin receptor-like kinase-1. Nat Genet. 2000;26:328-331.
9. Roman BL, Pham VN, Lawson ND, et al. Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels. Development. 2002;129:3009-3019.
10. Brusgaard K, Kjeldsen AD, Poulsen L, et al. Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2004;66:556-561.
11. van den Driesche S, Mummery CL, Westermann CJ. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res. 2003;58:20-31.
12. Kuehl HK, Caselitz M, Hasenkamp S, et al. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat. 2005;25:320.
13. Abdalla SA, Cymerman U, Rushlow D, et al. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 2005;25:320-321.
14. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. Prepublished on May 6, 2005, as DOI 10.1136/jmg.2005.030833.
15. Lu Z, Murray JT, Luo W, et al. Transforming growth factor beta activates Smad2 in the absence of receptor endocytosis. J Biol Chem. 2002;277:29363-29368.
16. Detrich HW 3rd, Kieran MW, Chan FY, et al. Intraembryonic hematopoietic cell migration during vertebrate development. Proc Natl Acad Sci U S A. 1995;92:10713-10717.
17. Joly JS, Joly C, Schulte-Merker S, Boulekbache H, Condamine H. The ventral and posterior expression of the zebrafish homeobox gene eve1 is perturbed in dorsalized and mutant embryos. Development. 1993;119:1261-1275.
18. Zhang L, Zhou H, Su Y, et al. Zebrafish Dpr2 inhibits mesoderm induction by promoting degradation of nodal receptors. Science. 2004;306:114-117.
19. Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001;345:325-334.
20. Kjeldsen AD, Brusgaard K, Poulsen L, et al. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet. 2001;98: 298-302.
21. Berg JN, Gallione CJ, Stenzel TT, et al. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet. 1997;61:60-67.
22. Abdalla SA, Pece-Barbara N, Vera S, et al. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet. 2000;9:1227-1237.
23. Olivieri C, Mira E, Delu G, et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet. 2002;39:E39.
24. Hata A, Seoane J, Lagna G, Montalvo E, Hemmati-Brivanlou A, Massague J. OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways. Cell. 2000;100:229-240.