Drosophila: An Invertebrate Model of NF1

作者: James A. Walker , Jean Y. Gouzi , André Bernards

DOI: 10.1007/978-3-642-32864-0_34

关键词:

摘要: NF1 is a highly variable and unpredictable disease. Symptom-specific genetic modifiers have been implicated as important determinants of disease development progression. The identification genes that affect outcome continues to be an research goal, in part because improving the predictability might allow stratification patients for clinical trials well reducing patient anxiety. Additionally, knowing identity modifier reveal mechanisms responsible symptoms identify novel therapeutic targets. fruit fly, Drosophila melanogaster, has used model over century, functions many evolutionarily conserved were first defined this species. genome includes single dNF1 gene, loss-of-function mutants several phenotypes, including overall growth deficiency learning/memory defects, both which resemble human symptoms. In chapter, we review what learned 15 years research, how recent work identified at least one promising new target, other knowledge obtained relevant those interested NF1.

参考文章(45)
Inge The, Gregory E Hannigan, Glenn S Cowley, Shoba Reginald, Yi Zhong, James F Gusella, Iswar K Hariharan, André Bernards, Rescue of a Drosophila NF1 mutant phenotype by protein kinase A Science. ,vol. 276, pp. 791- 794 ,(1997) , 10.1126/SCIENCE.276.5313.791
Allan Rubenstein, Vincent M. Riccardi, Lucille M. Kayes, Pamela Ehrlich, Karen Stephens, Robin Bennett, Wylie Burke, Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. American Journal of Human Genetics. ,vol. 54, pp. 424- 436 ,(1994)
S. M. Huson, D. F. Easton, M. A. Ponder, B. A. J. Ponder, An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. American Journal of Human Genetics. ,vol. 53, pp. 305- 313 ,(1993)
Hui-Fu Guo, Jiayuan Tong, Frances Hannan, Lin Luo, Yi Zhong, A neurofibromatosis-1-regulated pathway is required for learning in Drosophila Nature. ,vol. 403, pp. 895- 898 ,(2000) , 10.1038/35002593
L B Andersen, R Ballester, D A Marchuk, E Chang, D H Gutmann, A M Saulino, J Camonis, M Wigler, F S Collins, A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Molecular and Cellular Biology. ,vol. 13, pp. 487- 495 ,(1993) , 10.1128/MCB.13.1.487
Pablo Perez-Pinera, Wei Zhang, Yunchao Chang, Jose Antonio Vega, Thomas F. Deuel, Anaplastic lymphoma kinase is activated through the pleiotrophin/receptor protein-tyrosine phosphatase β/ζ signaling pathway : An alternative mechanism of receptor tyrosine kinase activation Journal of Biological Chemistry. ,vol. 282, pp. 28683- 28690 ,(2007) , 10.1074/JBC.M704505200
Michael Hölzel, Sidong Huang, Jan Koster, Ingrid Øra, Arjan Lakeman, Huib Caron, Wouter Nijkamp, Jing Xie, Tom Callens, Shahab Asgharzadeh, Robert C. Seeger, Ludwine Messiaen, Rogier Versteeg, René Bernards, NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome Cell. ,vol. 142, pp. 218- 229 ,(2010) , 10.1016/J.CELL.2010.06.004
Joseph B. Weiss, Changhui Xue, Ted Benice, Liquan Xue, Stephan W. Morris, Jacob Raber, Anaplastic lymphoma kinase and leukocyte tyrosine kinase: functions and genetic interactions in learning, memory and adult neurogenesis. Pharmacology, Biochemistry and Behavior. ,vol. 100, pp. 566- 574 ,(2012) , 10.1016/J.PBB.2011.10.024
Roymarie Ballester, Douglas Marchuk, Mark Boguski, Ann Saulino, Roxanne Letcher, Michael Wigler, Francis Collins, The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell. ,vol. 63, pp. 851- 859 ,(1990) , 10.1016/0092-8674(90)90151-4
Julie A Williams, Henry S Su, Andre Bernards, Jeffrey Field, Amita Sehgal, A Circadian Output in Drosophila Mediated by Neurofibromatosis-1 and Ras/MAPK Science. ,vol. 293, pp. 2251- 2256 ,(2001) , 10.1126/SCIENCE.1063097