NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos

Journal of Bone and Mineral Research

Volumn 19, Issue 6, 2004, Pages 983-989

  Kuorilehto, Tommi ^a   Nissinen, Marja ^a   Koivunen, Jussi ^a   Benson, M Douglas ^b   Peltonen, Juha ^a,c  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF TEXAS AT DALLAS   (United States)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

Bone; Cartilage; Neurofibromatosis; Neurofibromin; Ras

Indexed keywords

MESSENGER RNA; PROTEIN; PROTEIN NF1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE ACTIVATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE TRANSFER; GENETIC CODE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; KYPHOSCOLIOSIS; MOUSE; NEUROFIBROMATOSIS; NONHUMAN; OSTEOBLAST; OSTEOCLAST; OSTEOCYTE; PERIOSTEUM; PROTEIN ANALYSIS; SHORT STATURE; WESTERN BLOTTING; WILD TYPE; ANIMAL; BONE; EMBRYO DEVELOPMENT; ENZYME ACTIVATION; ENZYMOLOGY; GENETICS; METABOLISM; PRENATAL DEVELOPMENT; RAT; SPRAGUE DAWLEY RAT;

ANIMALS; BLOTTING, WESTERN; BONE AND BONES; EMBRYONIC DEVELOPMENT; ENZYME ACTIVATION; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MICE; MITOGEN-ACTIVATED PROTEIN KINASES; NEUROFIBROMIN 1; RATS; RATS, SPRAGUE-DAWLEY; RNA, MESSENGER;

EID: 16644392408     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.040130     Document Type: Article

References (37)

1. Crawford AH Jr, Bagamery N 1986 Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop 6:72-88.
2. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D 1997 The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51-57.
3. Jacquemin C, Mullaney P, Bosley TM 2001 Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. Neuroradiology 43:178-182.
4. Riccardi VM 1999 Skeletal system. In: Riccardi VM (ed.) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 3rd ed. Johns Hopkins University Press, Baltimore, MD, USA, pp. 250-273.
5. Friedman JM, Birch PH 1997 Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70:138-143.
6. Huson SM 1994 Neurofibromatoses 1: A pathogenetic and clinical overview. In: Hughes RAC (ed.) The Neurofibromatoses: A Pathogenetic and Clinical Overview 7, 1st ed. Chapman & Hall Medical, London, UK, pp. 160-203.
7. Poyhonen M 2000 A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in Northern Finland. J Med Genet 37:E43.
8. Cawthon RM, O'Connell P, Buchberg AM, Viskochil D, Weiss RB, Culver M, Stevens J, Jenkins NA, Copeland NG, White R 1990 Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 7:555-565.
9. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P 1990 Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192.
10. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS 1990 Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249:181-186.
11. Cichowski K, Jacks T 2001 NF1 tumor suppressor gene function: Narrowing the GAP. Cell 104:593-604.
12. Gutmann DH, Collins FS 1993 The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 10:335-343.
13. Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N 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.
14. Daston MM, Ratner N 1992 Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn 195:216-226.
15. Ippolito E, Corsi A, Grill F, Wientroub S, Bianco P 2000 Pathology of bone lesions associated with congenital pseudarthrosis of the leg. J Pediatr Orthop B 9:3-10.
16. Ramelli GP, Slongo T, Tschappeler H, Weis J 2001 Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1. Pediatr Surg Int 17:239-241.
17. Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Balestrazzi P, Boni S, Buske A, Korf BR, Niimura M, Pivnick EK, Schorry EK, Short MP, Tenconi R, Tonsgard JH, Carey JC 1999 Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 84:413-419.
18. Talab YA 1993 Congenital pseudoarthrosis of the radius. A case report and review of the literature. Clin Orthop 291:246-250.
19. Young H, Hyman S, North K 2002 Neurofibromatosis I: Clinical review and exceptions to the rules. J Child Neurol 17:613-651.
20. Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, Buchberg AM, Jenkins NA, Parada LF, Copeland NG 1994 Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 8:1019-1029.
21. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA 1994 Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 7:353-361.
22. McClatchey AI, Cichowski K 2001 Mouse models of neurofibromatosis. Biochim Biophys Acta 1471:M73-M80.
23. Gitler AD, Zhu Y, Ismat FA, Lu MM, Yamauchi Y, Parada LF, Epstein JA 2003 Nf1 has an essential role in endothelial cells. Nat Genet 33:75-79.
24. Huynh DP, Nechiporuk T, Pulst SM 1994 Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Dev Biol 161:538-551.
25. Zhu Y, Romero MI, Ghosh P, Ye Z, Charnay P, Rushing FJ, Marth JD, Parada LF 2001 Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev 15:859-876.
26. Laemmli UK 1970 Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.
27. Koivunen J, Yla-Outinen H, Korkiamaki T, Karvonen SL, Poyhonen M, Laato M, Karvonen J, Peltonen S, Peltonen J 2000 New function for NF1 tumor suppressor. J Invest Dermatol 114:473-479.
28. Yla-Outinen H, Koivunen J, Nissinen M, Bjorkstrand AS, Paloniemi M, Korkiamaki T, Peltonen S, Karvonen SL, Peltonen J 2002 NFl tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(24-)-induced keratinocyte differentiation. Lab Invest 82:353-361.
29. Cancedda R, Descalzi Cancedda F, Castagnola P 1995 Chondrocyte differentiation. Int Rev Cytol 159:265-358.
30. Iyama K, Ninomiya Y, Olsen BR, Linsenmayer TF, Trelstad RL, Hayashi M 1991 Spatiotemporal pattern of type X collagen gene expression and collagen deposition in embryonic chick vertebrae undergoing endochondral ossification. Anat Rec 229:462-472.
31. Kaufman MH 1995 Differentiation of the skeletal system. In: Kaufman MH (ed.) The Atlas of Mouse Development, revised ed. Academic Press, London, UK, pp. 495-506.
32. Hirvonen O, Lakkakorpi J, Aaltonen V, Hirvonen H, Rossi M, Karvonen SL, Yla-Outinen H, Kalimo H, Peltonen J 1998 Developmental regulation of NF1 tumor suppressor gene in human peripheral nerve. J Neurocytol 27:939-952.
33. Malminen M, Peltonen S, Koivunen J, Peltonen J 2002 Functional expression of NF1 tumor suppressor protein: Association with keratin intermediate filaments during the early development of human epidermis. BioMed Central Dermatol 2:10.
34. Downward J 2003 Targeting RAS signalling pathways in cancer therapy. Nature Rev Cancer 3:11-22.
35. Larsen WJ 2001 Development of the head, the neck, the eyes, and the ears. In: Scott WJ (ed.) Human embryology, 3rd ed. Churchill Livingstone, New York, NY, USA, pp. 349-417.
36. Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J 1992 Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356: 713-715.
37. Legeai-Mallet L, Benoist-Lasselin C, Delezoide AL, Munnich A, Bonaventure J 1998 Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J Biol Chem 273:13007-13014.