Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2

Human Molecular Genetics

Volumn 9, Issue 8, 2000, Pages 1227-1237

  Abdalla, Salma A ^a   Pece Barbara, Nadia ^a   Vera, Sonia ^a   Tapia, Esther ^b   Paez, Eduardo ^b   Bernabeu, Carmelo ^b   Letarte, Michelle ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR; ENDOGLIN; POLYCLONAL ANTIBODY; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ALLELE; ANIMAL CELL; ARTICLE; CODON; ENDOTHELIUM CELL; GENE MUTATION; HUMAN; IMMUNOPRECIPITATION; MISSENSE MUTATION; NEWBORN; NONHUMAN; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; UMBILICAL VEIN; WESTERN BLOTTING;

ANIMALIA;

EID: 0034194584     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.8.1227     Document Type: Article

References (52)

1. Guttmacher, A.E., Marchuk, D.A. and White, R.I.J. (1995) Hereditary hemorrhagic telangiectasia. N. Engl J. Med., 333, 918-924.
2. McDonald, M.T., Papenberg, K.A., Ghosh, S., Glatfelter, A.A., Biesecker, B.B., Helmbold, E.A., Markel, D.S., Zolotor, A., McKinnon, W.C., Vanderstoep, J.L. et al. (1994) A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet., 6, 197-204.
3. Shovlin, C.L., Hughes, J.M.B., Tuddenham, E.G.D., Temperley, I., Perembelon, Y.F.N., Scott, J., Seidman, C.E. and Seidman, J.G. (1994) A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet., 6, 205-209.
4. McAllister, K.A., Grogg, K.M., Johnson, D.W., Gallione, C.J., Baldwin, M.A., Jackson, C.E., Helmbold, E.A., Markel, D.S., McKinnon, W.C., Murrell, J. et al. (1994) Endoglin, a TGF-β binding protein of endothelial cells is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet., 8, 345-351.
5. Vincent, P., Plauchu, H., Hazan, J., Faure, S., Weissenbach, J. and Godet, J. (1995) A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum. Mol. Genet., 4, 945-949. [Published erratum appears in (1995) Hum. Mol. Genet., 4, 1243.]
6. Johnson, D.W., Berg, J.N., Gallione, C.J., McAllister, K.A., Warner, J.P., Helmbold, E.A., Markel, D.S., Jackson, C.E., Porteous, M.E. and Marchuk, D.A. (1995) A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. PCR Methods Appl., 5. 21-28.
7. Berg, J.N., Gallione, C.J., Stenzel, T.T., Johnson, D.W., Allen, W.P., Schwartz, C.E., Jackson, C.E., Porteous, M.E. and Marchuk, D.A. (1997) The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am. J. Hum. Genet., 61, 60-67.
8. Plauchu, H., de Chadaverian, J.-P., Bideau, A. and Robert, J.-M. (1989) Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am. J. Med. Genet., 32, 291-297.
9. Shovlin, C.L., Winstock, A.R., Peters, A.M., Jackson, J.E. and Hughes, J.M. (1995) Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. Q. J. Med., 88, 879-887.
10. Shovlin, C. and Letarte, M. (1999) Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax, 54, 714-729.
11. Kikuchi, K., Kowada, M. and Sasajima, H. (1994) Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Surg. Neurol., 41, 374-380.
12. Heutink, P., Haitjema, T., Breedveld, G.J., Janssen, B., Sandkuijl, L.A., Bomekoe, C.J.M., Westerman, C.J.J. and Oostra, B.A. (1994) Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J. Med. Genet., 31, 933-936.
13. McAllister, K.A., Lennon, F., Bowles-Biesecker, B., McKinnon, W.C., Helmbold, E.A., Markel, D.S., Jackson, C.E., Guttmacher, A.E., Pericak-Vance, M.A. and Marchuk, D.A. (1994) Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J. Med. Genet., 31, 927-932.
14. Berg, J.N., Guttmacher, A.E., Marchuk, D.A. and Porteous, M.E. (1996) Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J. Med. Genet., 33, 256-257.
15. Gougos, A. and Letarte, M. (1988) Biochemical characterization of the 44G4 antigen from the HOON pre-B leukemic cell line. J. Immunol., 141, 1934-1940.
16. Attisano, L., Cárcamo, J., Ventura, F., Weis, F.M.B., Massagué, J. and Wrana, J.L. (1993) Identification of human activin and TGFβ type I receptors that form heteromeric kinase complexes with type II receptors. Cell, 75, 671-680.
17. Massagué, J., Attisano, L. and Wrana, J.L. (1994) The TGF-β family and its composite receptors. Trends Cell Biol., 4, 172-178.
18. ten Dijke, P., Yamashita, H., Ichijo, H., Franzen, P., Laiho, M., Miyazono, K. and Heldin, C.-H. (1994) Characterization of the type I receptors for transforming growth factor-β receptor-like and activin. Science, 264, 101-104.
19. Miyazono, K., ten Dijke, P., Ichijo, H. and Heldin, C.-H. (1994) Receptors for transforming growth factor-β. Adv. Immunol., 55, 181-220.
20. Wrana, J.L., Attisano, L., Cárcamo, J., Zentella, A., Doody, J., Laiho, M., Wang, X.-F. and Massagué, J. (1992) TGF-β signals through a heteromeric protein kinase receptor complex. Cell, 71, 1003-1014.
21. Wrana, J.L., Attisano, L., Wieser, R., Ventura, F. and Massagué. J. (1994) Mechanisms of activation of the TGF-β receptor. Nature, 370, 341-347.
22. Attisano, L., Wrana, J.L., Montalvo, E. and Massagué, J. (1996) Activation of signaling by the activin receptor complex. Mol. Cell. Biol., 16, 1066-1073.
23. Heldin, C.H., Miyazono, K. and ten Dijke, P. (1997) TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature, 390, 465-471.
24. Hoodless, P.A., Haerry, T., Abdollah, S., Stapleton, M., O'Connor, M.B., Attisano, L. and Wrana, J.L. (1996) MADRI, a MAD-related protein that functions in BMP2 signaling pathways. Cell, 85, 489-500.
25. Kretzschmar, M., Liu, F., Hata, A., Doody, J. and Massagué, J. (1997) The TGF-beta family mediator Smadl is phosphorylated directly and activated functionally by the BMP receptor kinase. Genes Dev., 11, 984-995.
26. Yamashita, H., ten Dijke, P., Huylebroeck, D., Sampath, T.K., Andries, M., Smith, J.C., Heldin, C.H. and Miyazono, K. (1995) Osteogenic protein-1 binds to activin type II receptors and induces certain activin-like effects. J. Cell Biol., 130, 217-226.
27. Macías-Silva, M., Hoodless, P.A., Jun Tang, S., Buchwald, M. and Wrana, J.L. (1998) Specific activation of Smadl signalling pathways by the BMP7 type I receptor ALK2. J. Biol. Chem., 273, 25628-25636.
28. Barbara, N.P., Wrana, J.L. and Letarte, M. (1999) Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. J. Biol. Chem., 274, 584-594.
29. ten Dijke, P., Ichijo, H., Franzen, P., Schulz, P., Saras, J., Toyoshima. H., Heldin, C.-H. and Miyazono, K. (1993) Activin receptor-like kinases: a novel subclass of cell surface receptors with predicted serine/threonine kinase activity. Oncogene, 8, 2879-2887.
30. Hanks, S.K., Quinn, A.M. and Hunter, T. (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. [Review] Science, 241, 42-52.
31. Johnson, D.W., Berg, J.N., Baldwin, M.A., Gallione, C.J., Marondel, I., Yoon, S.J., Stenzel, T.T., Speer, M., Pericak-Vance, M.A., Diamond, A. et al. (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nature Genet., 13, 189-195.
32. Klaus, D.J., Gallione, C.J., Antony, K., Yeh, E.Y., Yu, J., Lux, A., Johnson, D.W. and Marchuk, D.A. (1998) Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Hum. Mutat., http://journals.wiley.com/1059-7794/mutbr7.htm/
33. Moss, B. and Flexner, C. (1987) Vaccinia virus expression vectors. Annu. Rev. Immunol., 5, 305-324.
34. Cymerman, U., Vera, S., Pece-Barbara, N., Bourdeau, A., White, R.J., Dunn, J. and Letarte, M. (2000) Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr. Res., 47, 24-35.
35. Pece, N., Vera, S., Cymerman, U., White, R.J., Wrana, J.L. and Letarte, M. (1997) Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J. Clin. Invest., 100, 2568-2579.
36. Oettgen, H.C., Pettrey, C.L., Maloy, W.L. and Terhorst, C. (1986) T3-like protein complex associated with the antigen receptor on murine T cells. Nature, 320, 272-275.
37. Lux, A., Attisano, L. and Marchuk, D.A. (1999) Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1. J. Biol. Chem., 274, 9984-9992.
38. Chen, Y.G. and Massague, J. (1999) Smad1 recognition and activation by the ALK1 group of transforming growth factor-beta family receptors. J. Biol. Chem., 274, 3672-3677.
39. Li, D.Y., Sorensen, L.K., Brooke, B.S., Urness, L.D., Davis, E.C., Boak, B.B. and Wendel, D.P. (1999) Defective angiogenesis in mice lacking endoglin. Science, 284, 1534-1537.
40. Bourdeau, A., Dumont, D.J. and Letarte, M. (1999) A murine model of hereditary hemorrhagic telangiectasia. J. Clin. Invest., 104, 1343-1351.
41. Dickson, M.C., Martin, J.S., Cousins, F.M., Kulkarni, A.B., Karlsson, S. and Akhurst, R.J. (1995) Defective haematopoiesis and vasculogenesis in transforming growth factor-β1 knock out mice. Development, 121, 1845-1854.
42. Oshima, M., Oshima, H. and Taketo, M. (1996) TGF-β receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis. Dev. Biol., 179, 297-302.
43. Pece-Barbara, N., Cymerman, U., Vera, S., Marchuk, D.A. and Letarte, M. (1999) Expression analysis of four endoglin missense mutations suggests haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum. Mol. Genet., 8, 2171-2181.
44. Bellón, T., Corbi, A., Lastres, P., Calés, C., Cebrián, M., Vera, S., Chefeitz, M., Massagué, J., Letarte, M. and Bernabeu, C. (1993) Identification and expression of two forms of the human transforming growth factor-β-binding protein endoglin with distinct cytoplasmic regions. Eur. J. Immunol., 23, 2340-2345.
45. Carcamo, J., Weis, F.M.B.. Ventura, F., Wieser, R., Wrana, J.L., Attisano, L. and Massagué, J. (1994) Type 1 receptors specify growth-inhibitory and transcriptional responses to transforming growth factor β and activin. Mol. Cell. Biol., 14, 3810-3821.
46. Attisano, L., Wrana, J.L., Cheifetz, S. and Massagué, J. (1992) Novel activin receptors: distinct genes and alternative mRNA splicing generate a repertoire of serine/threonine kinase receptors. Cell, 68, 97-108.
47. Lopez-Guerrero, J.A., Lopez-Bote, J.P., Ortiz, M.A., Gupta, R.S., Paez, E. and Bernabeu, C. (1993) Modulation of adjuvant arthritis in Lewis rats by recombinant vaccinia virus expressing the human 60-kilodalton heat shock protein. Infect. Immun., 61, 4225-4231.
48. Pichuantes, S., Vera, S., Bourdeau, A., Pece, N., Kumar, S., Wayner, E.A. and Letarte, M. (1997) Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments. Tissue Antigens, 50, 265-276.
49. Raab, U., Velasco, B., Lastres, P., Letamendia, A., Cales, C., Langa, C., Tapia, E., Lopez-Bote, J.P., Paez, E. and Bernabeu, C. (1999) Expression of normal and truncated forms of human endoglin. Biochem. J., 339, 579-588.
50. Frolik, C.A., Wakefield, L.M., Smith, D.M. and Sporn, M.B. (1984) Characterization of a membrane receptor for transforming growth factor-β in normal rat kidney fibroblasts. J. Biol. Chem., 259, 10995-11000.
51. Cheifetz, S., Bassols, A., Stanley, K., Ohta, M., Greenberger, J. and Massagué, J. (1988) Heterodimeric transforming growth factor β. Biological properties and interaction with three types of cell surface receptors. J. Biol. Chem., 263, 10783-10789.
52. Massagué, J., Czech, M.P., Iwata, K., DeLarco, J.E. and Todaro, G.J. (1982) Affinity labeling of a transforming growth factor receptor that does not interact with epidermal growth factor. Proc. Natl Acad. Sci. USA, 79, 6822-6826.