Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis

Brain Pathology

Volumn 9, Issue 1, 1999, Pages 45-54

  Johnson, Michael W ^a   Emelin, Jessica K ^a   Park, Sung Hye ^a   Vinters, Harry V ^a  

^a UCLA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HAMARTIN; PROTEIN TSC1; SYNTHETIC PEPTIDE; TUBERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHROMOSOME 16P; CHROMOSOME 19Q; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; PRESCHOOL CHILD; PROTEIN EXPRESSION; SEIZURE; TUBEROUS SCLEROSIS;

EID: 0032957003     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1999.tb00209.x     Document Type: Article

References (41)

1. Au K-S, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H (1998) Germline mutational analysis of the TSC2 gene in 90 tuberoussclerosis patients. Am J Hum Genet 62:286-294
2. Carbonara C, Longa L, Grosso E, Borrone C, Garrè MG, Brisigotti M, Migone N (1994) 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 3:1829-1832
3. Crino PB, Eberwine J (1997) Cellular and molecular basis of cerebral dysgenesis. J Neurosci Res 50:907-916
4. Crino PB, Trojanowski JQ, Dichter MA, Eberwine J (1996) Embryonic neuronal markers in tuberous sclerosis: Single-cell molecular pathology. Proc Natl Acad Sci USA 93:14152-14157
5. Eichmuller S, Stevenson PA, Paus R (1996) A new method for double immunolabelling with primary antibodies from identical species. J Immunol Methods 190:255-265
6. The European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
7. Farrell MA, DeRosa MJ, Curran JG, Secor DL, Cornford ME, Comair YG, Peacock WJ, Shields WD, Vinters HV (1992) Neuropathologic findings in cortical resections (including hemispherectomies) performed for the treatment of intractable childhood epilepsy. Acta Neuropathol 83:246-259
8. Geist RT, Gutmann DH (1995) The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. Cell Growth Differ 6:1477-1483
9. Geist RT, Reddy AJ, Zhang J, Gutmann DH (1996) Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. Neurobiol Disease 3:111-120
10. Goldman SA, Luskin MB (1998) Strategies utilized by migrating neurons of the postnatal vertebrate forebrain. Trends Neurosci 21:107-114
11. Gomez MR (1988) Tuberous Sclerosis, Second edition. New York:Raven Press
12. Gomez MR (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann NY Acad Sci 615:1-7
13. Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR (1997) Cortical tuber count: A biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 12:85-90
14. Green AJ, Johnson PH, Yates JRW (1994) The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 3:1833-1834
15. Green AJ, Smith M, Yates JRW (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genetics 6:193-196
16. Grimes ML, Zhou J, Beattie EC, Yuen EC, Hall DE, Valletta JS, Topp KS, LaVail JH, Bunnett NW, Mobley WC (1996) Endocytosis of activated TrkA: Evidence that nerve growth factor induces formation of signaling endosomes. J Neurosci 16:7950-7964
17. Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ (1996) Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 59:400-406
18. Henske EP, Wessner LL, Golden J, Scheithauer BW, Vortmeyer AO, Zhuang Z, Klein-Szanto AJP, Kwiatkowski DJ, Yeung RS (1997) Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 151:1639-1647
19. Kerfoot C, Wienecke R, Menchine M, Emelin J, Maize JC Jr, Welsh CT, Norman MG, DeClue JE, Vinters HV (1996) Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. Brain Pathol 6:367-377
20. Kimura N, Watanabe M, Date F, Kitamoto T Kimura I, Horii A, Nagura H (1997) HMB-45 and tuberin in hamartomas associated with tuberous sclerosis. Mod Pathol 10:952-959
21. Luskin MB (1994) Neuronal cell lineage in the vertebrate central nervous system. FASEB J 8:722-730
22. Menchine M, Emelin JK, Mischel PS, Haag TA, Norman MG, Pepkowitz SH, Welsh CT, Townsend JJ, Vinters HV (1996) Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. Mod Pathol 9:1071-1080
23. Mischel PS, Nguyen LP, Vinters HV (1995) Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. J Neuropathol Exp Neurol 54:137-153
24. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S (1996) Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 40:941-944
25. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S (1997) Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis. Acta Neuropathol 94:525-531
26. Park S-H, Emelin J, Vinters HV (1998) Tuberin (TSC2) and hamartin (TSC1) expression in human fetal and child brains. J Neuropathol Exp Neurol 57:515.
27. Park S-H, Pepkowitz SH, Kerfoot C, De Rosa MJ, Poukens V, Wienecke R, DeClue JE, Vinters HV (1997) Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol 94:180-186
28. Peacock WJ, Wehby-Grant MC, Shields WD, Shewmon DA, Chugani HT, Sankar R, Vinters HV (1996) Hemispherectomy for intractable seizures in children: a report of 58 cases. Child's Nerv Syst 2:376-384
29. Richardson EP Jr (1991) Pathology of tuberous sclerosis. Neuropathologic aspects. Ann NY Acad Sci 615:128-139
30. Sampson JR, Harris PC (1994) The molecular genetics of tuberous sclerosis. Hum Mol Genet 3:1477-1480
31. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JBM, Ward S, Green AJ, Yates JRW, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805-808
32. van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R, van den Ouweland A, Reuser A, Sampson J, Hally D, van der Sluijs P (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7:1053-1057
33. Vinters HV, De Rosa MJ, Farrell MA (1993) Neuropathologic study of resected cerebral tissue from patients with infantile spasms. Epilepsia 34:772-779
34. Vinters HV, Kerfoot C, Catania M, Emelin JK, Roper SN, DeClue JE (1998) Tuberous sclerosis-related gene expression in normal and dysplastic brain. Epilepsy Res 32:12-23
35. Vinters HV, Kerfoot C, Emelin JK (1997) Tuberin loss from cerebral tissues. Ann Neurol 42:270-271
36. Wienecke R, Guha A, Maize JC Jr, Heideman RL, DeClue JE, Gutmann DH (1997) Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Ann Neurol 42:230-235
37. Wienecke R, König A, DeClue JE (1995) Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. J Biol Chem 270:16409-16414
38. Wienecke R, Maize JC Jr, Reed JA, de Gunzburg J, Yeung RS, DeClue JE (1997) Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues. Am J Pathol 150:43-50
39. Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL (1996) Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 5:249-256
40. Xiao G-H, Shoarinejad F, Jin F, Golemis EA, Yeung RS (1997) The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem 272:6097-6100
41. Yeung RS, Katsetos CD, Klein-Szanto A (1997) Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. Am J Pathol 151:1477-1486