Genetic approaches to TGFβ signaling pathways

Cytokine and Growth Factor Reviews

Volumn 10, Issue 3-4, 1999, Pages 179-186

  Das, Pradeep ^a   Maduzia, Lisa L ^a   Padgett, Richard W ^a  

^a RUTGERS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIGAND; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; CAENORHABDITIS ELEGANS PROTEIN; DNA BINDING PROTEIN; HELMINTH PROTEIN; PHOSPHOPROTEIN; SMA 3 PROTEIN, C ELEGANS; SMA-3 PROTEIN, C ELEGANS; SMAD5 PROTEIN; SMAD5 PROTEIN, HUMAN; SMAD5 PROTEIN, MOUSE; TRANSACTIVATOR PROTEIN;

CAENORHABDITIS ELEGANS; COLORECTAL CANCER; EMBRYOPATHY; GENE MUTATION; HUMAN; MUTANT; NONHUMAN; RENDU OSLER WEBER DISEASE; SHORT SURVEY; SIGNAL TRANSDUCTION; ANIMAL; COLORECTAL TUMOR; CONGENITAL MALFORMATION; DROSOPHILA; GENETIC PROCEDURES; GENETICS; METABOLISM; MOUSE; MUELLERIAN DUCT; PRENATAL DEVELOPMENT; REVIEW;

ANIMALS; CAENORHABDITIS ELEGANS; CAENORHABDITIS ELEGANS PROTEINS; COLORECTAL NEOPLASMS; DNA-BINDING PROTEINS; DROSOPHILA; GENETIC TECHNIQUES; HELMINTH PROTEINS; HUMANS; MICE; MULLERIAN DUCTS; PHOSPHOPROTEINS; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; SMAD5 PROTEIN; TRANS-ACTIVATORS; TRANSFORMING GROWTH FACTOR BETA;

EID: 0033233271     PISSN: 13596101     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1359-6101(99)00014-3     Document Type: Short Survey

References (94)

1. Brenner S. The genetics of Caenorhabditis elegans. Genetics. 77:1974;71-94.
2. Nüsslein-Volhard C., Wieschaus E. Mutations affecting segment number and polarity in Drosophila. Nature. 287:1980;795-801.
3. Consortium T.CeS. Genome sequence of the nematode C. elegans: a platform for investigating biology. Science. 282:1998;2012-2018.
4. Massagué J. TGF-β signal transduction. Annu. Rev. Biochem. 67:1998;753-791.
5. Padgett R.W., St Johnston R.D., Gelbart W.M. A transcript from a Drosophila pattern gene predicts a protein homologous to the transforming growth factor-β family. Nature. 325:1987;81-84.
6. Spencer F.A., Hoffmann F.M., Gelbart W.M. Decepentaplegic: a gene complex affecting morphogenesis in Drosophila melanogaster. Cell. 28:1982;451-461.
7. Segal D., Gelbart W.M. Shortvein, a new component of the decapentaplegic gene complex in Drosophila melanogaster. Genetics. 109:1985;119-143.
8. Irish V.F., Gelbart W.M. The decapentaplegic gene is required for dorsal-ventral patterning of the Drosophila embryo. Genes & Development. 1:1987;868-879.
9. Padgett R.W., Wozney J.M., Gelbart W.M. Human BMP sequences can confer normal dorsal-ventral patterning in the Drosophila embryo. Proc. Natl. Acad. Sci. USA. 90:1993;2905-2909.
10. Sampath T.K., Rashka K.E., Doctor J.S., Tucker R.F., Hoffmann F.M. Drosophila transforming growth factor β superfamily proteins induce endochondral bone formation in mammals. Proc. Natl. Acad. Sci. USA. 90:1993;6004-6008.
11. Arora K., Levine M.S., O'Connor M.B. The screw gene encodes a ubiquitously expressed member of the TGF-β family required for specification of dorsal cell fates in the Drosophila embryo. Genes & Development. 8:1994;2588-2601.
12. Ren P., Lim C.S., Johnsen R. Control of C. elegans larval development by neuronal expression of a TFG-β homolog. Science. 274:1996;1389-1391.
13. Chen Y., Riese M.J., Killinger M.A., Hoffmann F.M. A genetic screen for modifiers of Drosophila decapentaplegic signaling identifies mutations in punt, Mothers against dpp and the BMP-7 homologue, 60A. Development. 125:1998;1759-1768.
14. Colavita A., Krishna S., Zheng H., Padgett R.W., Culotti J.G. Pioneer axon guidance by UNC-129, a C. elegans TGF-β Science. 281:1998;706-709.
15. Kutty G., Kutty R.K., Samule W. Identification of a new member of transforming growth factor-β superfamily in Drosophila: the first invertebrate activin gene. Biochem. Biophys. Res. Commun. 246:1998;644-649.
16. Xu T., Rubin G.M. Analysis of genetic mosaics in developing and adult Drosophila tissues. Development. 117:1993;1223-1237.
17. Struhl G., Basler K. Organizing activity of wingless protein in Drosophila. Cell. 72:1993;5240-5275.
18. Brand A.H., Perrimon N. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development. 118:1993;401-415.
19. Lecuit T., Brook W.J., Ng M. Two distinct mechanisms for long-range patterning by decapentaplegic in the Drosophila wing. Nature. 381:1996;387-393.
20. Nellen D., Affolter M., Basler K. Receptor serine/threonine kinases implicated in the control of Drosophila body pattern by decapentaplegic. Cell. 78:1994;225-237.
21. Zecca M., Basler K., Struhl G. Direct and long-range action of a wingless morphogen gradient. Cell. 87:1996;833-844.
22. Massagué J. TGFβ signaling: receptors, transducers, and Mad proteins. Cell. 85:1996;947-950.
23. Mathews L.S., Vale W.W. Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell. 65:1991;973-982.
24. Georgi L.L., Albert P.S., Riddle D.L. daf-1, a C. elegans gene controlling dauer larva development, encodes a novel receptor protein kinase. Cell. 61:1990;635-645.
25. Estevez M., Attisano L., Wrana J.L. The daf-4 gene encodes a bone morphogenetic protein receptor controlling C. elegans dauer larva development. Nature. 365:1993;644-649.
26. Savage C., Das P., Finelli A.L. Caenorhabditis elegans genes sma-2, sma-3, and sma-4 define a conserved family of transforming growth factor β pathway components. Proc. Natl. Acad. Sci. USA. 93:1996;790-794.
27. Wrana J.L., Attisano L., Wieser R., Ventura F., Massagué J. Mechanism of activation of the TGF-β receptor. Nature. 370:1994;341-347.
28. Affolter M., Nellen D., Nussbaumer U., Basler K. Multiple requirements for the receptor serine/threonine kinase thick veins reveal novel functions of TGF-β homologs during Drosophila embryogenesis. Development. 120:1994;3105-3117.
29. Brummel T.J., Twombly V., Marques G. Characterization and relationship of dpp receptors encoded by the saxophone and thick veins genes in Drosophila. Cell. 78:1994;251-261.
30. Xie T., Finelli A.L., Padgett R.W. The Drosophila saxophone gene: a serine-threonine kinase receptor of the TGF-β superfamily. Science. 263:1994;1756-1759.
31. Letsou A., Arora K., Wrana J.L. Drosophila dpp signaling is mediated by the punt gene product: a dual ligand-binding type II receptor of the TGFβ receptor family. Cell. 80:1995;899-908.
32. Ruberte E., Marty T., Nellen D., Affolter M., Basler K. An absolute requirement for both the type II and type I receptors, punt and thick veins, for dpp signaling in vivo. Cell. 80:1995;889-897.
33. Greider N.C., Nellen D., Burke R., Basler K., Affolter M. Schnurri is required for Drosophila dpp signaling and encodes a zinc finger protein similar to the mammalian transcription factor PRDII-BF1. Cell. 1995:1995;791-800.
34. Staehling-Hampton K., Laughon A.S., Hoffmann F.M. A Drosophila protein related to the human zinc finger transcription factor PRDII/MBPI/HIV-EP1 is required for dpp signaling. Development. 121:1995;3393-3403.
35. Raftery L.A., Twombly V., Wharton K., Gelbart W.M. Genetic screens to identify elements of the decapentaplegic signaling pathway in Drosophila. Genetics. 139:1995;241-254.
36. Sekelsky J.J., Newfeld S.J., Raftery L.A., Chartoff E.H., Gelbart W.M. Genetic characterization and cloning of Mothers against dpp, a gene required for decapentaplegic function in Drosophila melanogaster. Genetics. 139:1995;1347-1358.
37. Derynck R., Gelbart W.M., Harland R.M. Nomenclature: vertebrate mediators of TGFβ family signals. Cell. 87:1996;173.
38. Heldin C.H., Miyazono K., ten Dijke P. TGF-β signalling from cell membrane to nucleus through SMAD proteins. Nature. 390:1997;465-471.
39. Padgett R.W., Das P., Krishna S. TGF-β signaling, Smads and tumor supressors. BioEssays. 20:1998;382-390.
40. Hahn S.A., Schutte M., Hoque A.T. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science. 271:1996;350-353.
41. Nagatake M., Takagi Y., Osada H. Somatic in vivo alterations of the DPC4 gene at 18q21 in human lung cancers. Cancer Research. 56:1996;2718-2720.
42. Schutte M., Hruban R.H., Hedrick L. DPC4 gene in various tumor types. Cancer Research. 56:1996;2527-2530.
43. Thiagalingam S., Lengauer C., Leach F.S. Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nature Genetics. 13:1996;343-346.
44. Nomura M., Li E. Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature. 393:1998;786-790.
45. Waldrip W.R., Bikoff E.K., Hoddless P.A., Wrana J.L., Robertson E.J. Smad2 signaling in extraembryonic tissues determines anterior-posterior polarity of the early mouse embryo. Cell. 92:1998;797-808.
46. Weinstein M., Yang X., Li C. Failure of egg cylinder elongation and mesoderm induction in mouse embryos lacking the tumor suppressor smad2. Proc. Natl. Acad. Sci. USA. 95:1998;9378-9383.
47. Datto M.B., Frederick J.P., Pan L. Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction. Mol. Cell Biol. 19:1999;2495-2504.
48. Yang X., Letterio J.J., Lechleider R.J. Targeted disruption of SMAD3 results in impaired mucosal immunity and diminished T-cell responsiveness to TGF-β Embo. J. 18:1999;1280-1291.
49. Zhu Y., Richardson J.A., Parada L.F., Graff J.M. Smad3 mutant mice develop metastatic colorectal cancer. Cell. 94:1998;703-714.
50. Sirard C., de la Pompa J.L., Elia A. The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev. 12:1998;107-119.
51. Yang X., Li C., Xu X., Deng C. The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice. Proc. Natl. Acad. Sci. USA. 95:1998;3667-3672.
52. Masuyama N., Hanafusa H., Kusakabe M., Shibuya H., Nishida E. Identification of two Smad4 proteins in Xenopus. Their common and distinct properties. J. Biol. Chem. 274:1999;12,163-12,170.
53. Chang H., Huylebroeck D., Verschueren K. Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects. Development. 126:1999;1631-1642.
54. Markowitz S., Wang J., Myeroff L. Inactivation of the Type II TGF-β receptor in colon cancer cells with microsatellite instability. Science. 268:1995;1336-1338.
55. McAllister K.A., Grogg K.M., Johnson D.W. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat. Genet. 8:1994;345-351.
56. McAllister K.A., Baldwin M.A., Thukkani A.K. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum. Mol. Genet. 4:1995;1983-1985.
57. Johnson D.W., Berg J.N., Baldwin M.A. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat. Genet. 13:1996;189-195.
58. Carré-Eusèbe D., Imbeaud S., Harbison M. Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. Hum. Genet. 90:1992;389-394.
59. Knebelmann B., Boussin L., Guerrier D. Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. Proc. Natl. Acad. Sci. USA. 88:1991;3767-3771.
60. Faure E., Gouedard L., Imbeaud S. Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. J. Biol. Chem. 271:1996;30,571-30,575.
61. Riggins G.J., Thiagalingam S., Rozenblum E. Mad-related genes in the human. Nature Genetics. 13:1996;347-349.
62. Eppert K., Scherer S.W., Ozcelik H. MADR2 maps to 18q21 and encodes a TGFβ-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell. 86:1996;543-552.
63. Forrester W.C., Perens E., Zallen J.A., Garriga G. Identification of Caenorhabditis elegans genes required for neuronal differentiation and migration. Genetics. 148:1998;151-165.
64. Karim F.D., Chang H.C., Therrien M. A screen for genes that function downstream of Ras1 during Drosophila eye development. Genetics. 143:1996;315-329.
65. Yochem J., Sundaram M., Han M. Ras is required for a limited number of cell fates and not for general proliferation in Caenorhabditis elegans. Mol. Cell Biol. 17:1997;2716-2722.
66. Plasterk R.H.A. Reverse genetics: from gene sequence to mutant worm. Epstein H.F., Shakes D.C. Caenorhabditis elegans: modern biological analysis of an organism. 1995;59-96 Academic Press, New York.
67. Jansen G., Hazendonk E., Thijssen K.L., Plasterk R.H. Reverse genetics by chemical mutagenesis in Caenorhabditis elegans. Nat. Genet. 17:1997;119-121.
68. Fire A., Xu S., Montgomery M.K. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature. 391:1998;806-811.
69. Kennerdell J.R., Carthew R.W. Use of dsRNA-mediated genetic interference to demonstrate that frizzled and frizzled 2 act in the wingless pathway. Cell. 95:1998;1017-1026.
70. Misquitta L., Paterson B.M. Targeted disruption of gene function in Drosophila by RNA interference (RNA-i): a role for nautilus in embryonic somatic muscle formation. Proc. Natl. Acad. Sci. USA. 96:1999;1451-1456.
71. Imbeaud S., Faure E., Lamarra I. Insensitivity to anti-Müllarian hormone due to a mutation in the human anti-Müllarian hormone receptor. Nat. Genet. 11:1995;382-388.
72. Polinkovsky A., Robin N.H., Thomas J.T. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat. Genet. 17:1997;18-19.
73. Thomas J.T., Lin K., Nandedkar M. A human chondrodysplasia due to a mutation in a TGF-β superfamily member. Nat. Genet. 12:1996;315-317.
74. Thomas J.T., Kilpatrick M.W., Lin K. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat. Genet. 17:1997;58-64.
75. Garrigue-Antar L., Munoz-Antonia T., Antonia S.J. Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells. Cancer Res. 55:1995;3982-3987.
76. Cehn T., Carter D., Garrigue-Antar L., Reiss M. Transforming growth factor β type I receptor kinase mutant associated with metastatic breast cancer. Cancer Res. 58:1998;4805-4810.
77. DeCoteau J.F., Knause P.I., Yankelev H. Loss of functional cell surface transforming growth factor beta (TGF-β) type 1 receptor correlated with insensitivity to TGF-β in chronic lymphocytic leukemia. Proc. Natl. Acad. Sci. USA. 94:1997;5877-5881.
78. Kim S.K., Fan Y., Papadimitrakopoulou V. DPC4, a candidate tumor suppressor gene, is altered infrequently in head and neck squamous cell carcinoma. Cancer Research. 56:1996;2519-2521.
79. Lei J., Zou T.T., Shi Y.Q. Infrequent DPC4 gene mutation in esophageal cancer, gastric cancer and ulcerative colitis-associated neoplasms. Oncogene. 13:1996;2459-2462.
80. Howe J.R., Roth S., Ringold J.C. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 280:1998;1086-1088.
81. Hahn S.A., Bartsch D., Schroers A. Mutations of the DPC4/Smad4 gene in biliary tract carcinoma. Cancer Res. 58:1998;1124-1126.
82. Letterio J.J., Bottinger E.P. TGF-β knockout and dominant-negative receptor transgenic mice. Miner. Electrolyte Metab. 24:1998;161-167.
83. Williams A.O., Knapton A.D., Geiser A., Letterio J.J., Roberts A.B. The liver in transforming growth factor-β-1 (TGF-β 1) null mutant mice. Ultrastruct. Pathol. 20:1996;477-490.
84. Zhang H., Bradley A. Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development. Development. 122:1996;2977-2986.
85. Dunn N.R., Winnier G.E., Hargett L.K. Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx 4. Dev. Biol. 188:1997;235-247.
86. Kingsley D.M., Bland A.E., Grubber J.M. The mouse short ear skeletal morphogenesis locus is associated with defects in a bond morphogenetic member of the TGF beta superfamily. Cell. 71:1992;399-410.
87. King J.A., Marker P.C., Seung K.J., Kingsley D.M. BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice. Dev. Biol. 166:1994;112-122.
88. Jena N., Martin-Seisdedos C., McCue P., Croce C.M. BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye. Exp. Cell Res. 230:1997;28-37.
89. Karsenty G., Luo G., Hofmann C., Bradley A. BPM7 is required for nephrogenesis, eye development, and skeletal patterning. Ann. N.Y. Acad. Sci. 785:1996;98-107.
90. Takau K., Oshima M., Miyoshi H. Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. Cell. 92:1998;645-656.
91. Brummel T., Abdhollah S., Haerry T.E. The Drosophila activin receptor baboon signals through dSmad2 and controls cell proliferation but not patterning during larval development. Genes Dev. 13:1999;98-111.
92. Das P., Inoue H., Baker J.C. Drosophila dSmad2 and Atr-I transmit activin/TGFβ signals. Genes Cells. 4:1999;123-134.
93. Krishna S., Maduzia L.L., Padgett R.W. Specificity of TGFβ signaling is conferred by distinct type I receptors and their associated SMAD proteins in Caenorhabditis elegans. Development. 126:1999;251-260.
94. Riddle D.L., Swanson M.M., Albert P.S. Interacting genes in nematode dauer larva formation. Nature. 290:1981;668-671.