Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

Genes and Development

Volumn 8, Issue 9, 1994, Pages 1019-1029

  Brannan, Camilynn I ^a   Perkins, Archibald S ^b   Vogel, Kristine S ^a   Ratner, Nancy ^c   Nordlund, Michael L ^c   Reid, Susan W ^a   Buchberg, Arthur M ^a,d   Jenkins, Nancy A ^a   Parada, Luis F ^a   Copeland, Neal G ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b YALE UNIVERSITY   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^d THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

Author keywords

ES cells; Neurofibromatosis; NF1; Ras; transgenic mice

Indexed keywords

CATECHOLAMINE; DNA; NEUROFIBROMIN; PROTEIN; RNA; SYNAPTOPHYSIN; TYROSINE 3 MONOOXYGENASE;

ALLELE; ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EMBRYO; EMBRYO MORTALITY; GENE; GENE DISRUPTION; GENE MUTATION; GENE TARGETING; HYPERPLASIA; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; KIDNEY DEVELOPMENT; LIVER DEVELOPMENT; MICROSCOPY; MITOSIS INDEX; MOUSE; MUSCLE DEVELOPMENT; MUTANT; NEURAL CREST; NEUROFIBROMATOSIS; NONHUMAN; NORTHERN BLOTTING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYMPATHETIC GANGLION;

EID: 0028349997     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.8.9.1019     Document Type: Article

References (44)

1. Bader, J.L. 1986. Neurofibromatosis and cancer. Ann. N. Y. Acad. Sci. 486: 56-65.
2. Ballester, R., D. Marchuk, M. Boguski, A. Saulino, R. Letcher, M. Wigler, and F.S. Collins. 1990. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63: 851-859.
3. Bar-Sagi, D. and J. Feramisco. 1985. Microinjection of the ras oncogene protein into PC12 cells induces morphological differentiation. Cell 42: 841-848.
4. Basu, T.N., D.H. Gutmann, J.A. Fletcher, T.W. Glover, F.S. Collins, and J. Downward. 1992. Aberrant regulations of ras proteins in tumour cells from type 1 neurofibromatosis patients. Nature 356: 713-715.
5. Bernards, A., A. Snijders, G.E. Hannigan, A.E. Murthy, and J.F. Gusella. 1993. Mouse neurofibromin type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum. Mol. Genet. 2: 645-650.
6. Bradley, A. 1987. Production and analysis of chimeric mice. IRL Press, Oxford, England.
7. Buchberg, A.M., L.S. Cleveland, N.A. Jenkins, and N.G. Copeland. 1990. Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 347: 291-294.
8. Cawthon, R.M., R. Weiss, G. Xu, D. Viskochil, M. Culver, J. Stevens, M. Robertson, D. Dunn, R. Gesteland, P. O'Connell, and R. White. 1990. A major segment of the Neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 82: 193-201.
9. Cochard, P., M. Goldstein, and I.B. Black. 1978. Ontogenic appearance and disappearance of tyrosine hydroxylase and catecholamines in the rat embryo. Proc. Natl. Acad. Sci. 75: 2986-2990.
10. Daston, M.M. and N. Ratner. 1992. Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev. Dynamics 195: 216-226.
11. Daston, M.M., H. Scrable, M. Nordlund, A.K. Sturbaum, L.M. Nissen, and N. Ratner. 1992. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, schwann cells, and oligodendrocytes. Neuron 8: 415-428.
12. ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69: 265-273.
13. Golubic, M., M. Roudebush, S. Dobrowski, A. Wolfman, and D.W. Stacey. 1992. Catalytic properties, tissue and intracellular distribution of neurofibromin. Oncogene 7: 2151-2160.
14. Gutmann, D.H. and F.S. Collins. 1993. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 10: 335-343.
15. Gutmann, D.H., L.B. Andersen, J.L. Cole, M. Swaroop, and F.S. Collins. 1993. An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum. Mol. Genet. 2: 989-992.
16. Hall, A. 1990. ras and GAP-who's controlling whom? Cell 61: 921-923.
17. Hogan, B., F. Constantini, and E. Lacy. 1986. Manipulating the mouse embryo: A laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
18. Huynh, D.P., T. Nechiporuk, and S.M. Pulst. 1994. Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Dev. Biol. 161: 538-551.
19. Jenkins, N.A., N.G. Copeland, B.A. Taylor, and B.K. Lee. 1982. Organization, distribution, and stability of endogenous ecotropic marine leukemia virus DNA sequences in chromosomes of Mus musculus. J. Virol. 43: 26-36.
20. Johnson, M.R., A.T. Look, J.E. DeClue, M.B. Valentine, and D.R. Lowy. 1993. Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP-Ras. Proc. Natl. Acad. Sci. 90: 5539-5543.
21. Kaufman, R.L., A.F. Hartmann, and W.H. McAlister. 1972. Birth defects: Original article series 8: 92-95.
22. Kirby, M.L., T.F. Gale, and D.E. Stewart. 1983. Neural crest cells contribute to normal aorticopulmonary septation. Science 220: 1059-1061.
23. Knudson, A.G. 1971. Mutations and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. 68: 820-823.
24. Laird, P.W., A. Zijderveld, K. Linders, M.A. Rudnicki, R. Jaenisch, and A. Berns. 1991. Simplified mammalian DNA isolation procedure. Nucleic Acids Res. 19: 4293.
25. Legius, E., D.A. Marchuk, F.S. Collins, and T.W. Glover. 1993. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nature Genet. 3: 122-126.
26. Luna, L.G. 1968. Manual of histologic staining methods of the Armed Forces Institute of Pathology, pp. 195-196. McGraw-Hill, New York.
27. Marchuk, D.A., A.M. Saulino, R. Tavakkol, M. Swaroop, M.R. Wallace, L.B. Andersen, A.L. Mitchell, D.H. Gutmann, M. Boguski, and F.S. Collins. 1991. cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product. Genomics 11: 931-940.
28. Marshall, C.J. 1991. Tumor suppressor genes. Cell 64: 313-326.
29. Martin, G.A., D. Viskochil, G. Bollag, P.C. McCabe, W.J. Crosier, H. Haubruck, L. Conroy, R. Clark, P. O'Connell, R.M. Cawthon, M.A. Innis, and F. McCormick. 1990. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63: 84-3-849.
30. Nishi, T., P.S.Y. Lee, K. Oka, V.A. Levin, S. Tanase, Y. Morino, and H. Saya. 1991. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6: 1555-1559.
31. Noda, M., M. Ko, A. Ogura, D.-G. Liu, T. Amano, T. Takano, and Y. Ikawa. 1985. Sarcoma viruses carrying ras oncogenes induce differentiation-associated properties in a neuronal cell line. Nature 318: 73-75.
32. Nordlund, M., X. Gu, M.T. Shipley, and N. Ratner. 1993. Neurofibromin is enriched in the endoplasm reticulum of CNS neurons. J. Neurosci. 13: 1588-1600.
33. Riccardi, V.M. 1981. Von Recklinghausen neurofibromatosis. N. Engl. J. Med. 305: 1617-1627.
34. Riccardi, V.M. 1991. Neurofibromatosis: Past, present and future. N. Engl. J. Med. 324: 1283-1285.
35. Riccardi, V.M. and J.E. Eichner. 1986. Neurofibromatosis: Phenotype, natural history and pathogenesis. Johns Hopkins University Press, Baltimore, MD.
36. Robertson, E., A. Bradley, M. Kuehn, and M. Evans. 1986. Germline transmission of genes introduced into cultured pluripotent cells by retroviral vector. Nature 323: 445-448.
37. Siracusa, L.D., L.B. Russell, N.A. Jenkins, and N.G. Copeland. 1987. Allelic variation within the Emv-15 locus defines genomic sequences closely linked to the agouti locus on mouse chromosome 2. Genetics 117: 85-92.
38. The, I., A.E. Murthy, G.E. Hannigan, L.B. Jacoby, A.G. Menon, J.F. Gusella, and A. Bernards. 1993. Neurofibromatosis type 1 gene mutations in neuroblastoma. Nature Genet. 3: 62-66.
39. Thomas, K.R. and M.R. Capecchi. 1987. Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51: 503-512.
40. Viskochil, D., A.M. Buchberg, G. Xu, R.M. Cawthon, J. Stevens, R.K. Wolff, M. Culver, J.C. Carey, N.G. Copeland, N.A. Jenkins, R. White, and P. O'Connell. 1990. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192.
41. Wallace, M.R., D.A. Marchuk, L.B. Andersen, R. Letcher, H.M. Odeh, A.M. Saulino, J.W. Fountain, A. Brereton, J. Nicholson, A.L. Mitchell, B.H. Brownstein, and F.S. Collins. 1990. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186.
42. Wright, L.L., T.J. Cunningham, and A.J. Smolen. 1983. Developmental neuron death in the rat superior cervical sympathetic ganglion: Cell counts and ultrastructure. J. Neurocytol. 12: 727-738.
43. Xu, G., B. Lin, K. Tanaka, D. Dunn, D. Wood, R. Gesteland, R. White, R. Weiss, and F. Tamanoi. 1990a. The catalytic domain of the neurofibromatosis type 1 gene product stimulates rasGTPase and complements ira mutants of S. cerevisiae. Cell 63: 835-841.
44. Xu, G., P. O'Connell, D. Viskochil, R. Cawthon, M. Robertson, M. Culver, D. Dunn, J. Stevens, R. Gesteland, R. White, and R. Weiss. 1990b. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62: 599-608.