TNXB Locus may be a Candidate Gene Predisposing to Schizophrenia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 125 B, Issue 1, 2004, Pages 43-49

  Wei, J ^a   Hemmings, G P ^a  

^a Schizophrenia Assoc of Gt Britain   (United Kingdom)

Author keywords

Genetic heterogeneity; Human MHC; Schizophrenia; SNPs; TNXB

Indexed keywords

ALLELE; ARTICLE; EXON; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENETIC PREDISPOSITION; GENETIC RESISTANCE; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; NOTCH4 GENE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 0942301438     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.20093     Document Type: Article

References (54)

1. Arnold SE, Franz BR, Gur RC, Gur RE, Shapiro RM, Moberg PJ, Trojanowski JQ. 1995. Smaller neuron size in schizophrenia in hippocampal subfields that mediate cortical-hippocampal interactions. Am J Psychiatry 152:738-748.
2. Barr CE, Mednick SA, Munk-Jøgensen P. 1990. Exposure to influenza epidemics during gestation and adult schizophrenia. A 40-year study. Arch Gen Psychiatry 47:869-874.
3. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. 1993. Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 122:265-278.
4. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J. 1997. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 17:104-108.
5. Carnemolla B, Leprini A, Borsi L, Querze G, Urbini S, Zardi L. 1996. Human tenascin-R: Complete primary structure, pre-mRNA alternative splicing and gene localization on chromosome 1q23-q24. J Biol Chem 271:8157-8160.
6. Cichon S, Schumacher J, Ivo R, Macchiardi F, Schulze TG, Müller DJ, Kremer I, Dobrusin M, Mujaheed M, Murad I, Blanaru M, Bannoura I, Reshef A, Bachner-Melman R, Belmaker RH, Ebstein RP, Maier W, Rietschel M, Propping P, Nöthen MM. 2001. The NOTCH4 locus and schizophrenia: Analyses in the German and Palestinian Arab population. Am J Med Genet (Suppl) 105:571 (Abstr).
7. DeLisi LE, Stritzke P, Riordan H, Holan V, Boccio A, Kushner M, McClelland J, van Eyl O, Anand A. 1992. The timing of brain morphological changes in schizophrenia and their relationship to clinical outcome. Biol Psychiatry 31:241-254.
8. DeLisi LE, Tew W, Xie S, Hoff AL, Sakuma M, Kushner M, Lee G, Shedlack K, Smith A AM, Grimson R. 1995. A prospective follow-up study of brain morphology and cognition in first-episode schizophrenic patients: Preliminary findings. Biol Psychiatry 38:349-360.
9. DeLisi LE, Sakuma M, Ge S, Kushner M. 1998. Association of brain structural change with the heterogeneous course of schizophrenia from early childhood through five years subsequent to a first hospitalization. Psychiatry Res 84:75-88.
10. Erickson HP. 1993. Tenascin-C, tenascin-R, and tenascin-X: A family of talented proteins in search of functions. Curr Opin Cell Biol 5:869-876.
11. Evers MR, Salmen B, Bukalo O, Rollenhagen A, Bosl MR, Morellini F, Bartsch U, Dityatev A, Schachner M. 2002. Impairment of L-type Ca2+channel-dependent forms of hippocampal synaptic plasticity in mice deficient in the extracellular matrix glycoprotein tenascin-C. J Neurosci 22:7177-7194.
12. Fan JB, Tang JX, Gu NF, Feng GY, Zou FG, Xing YL, Shi JG, Zhao SM, Zhu S-M, Ji LP, Sun WW, Zheng YL, Liu WQ, Breen G, St. Clair D, He L. 2002. A family-based and case-control association study of the NOTCH4 gene and schizophrenia. Mol Psychiatry 7:100-103.
13. Fuss B, Wintergerst ES, Bartsch U, Schachner M. 1993. Molecular characterization and in situ mRNA localization of the neural recognition molecule J1-160/180: A modular structure similar to tenascin. J Cell Biol 120:1237-1249.
14. Gotz B, Scholze A, Clement A, Joester A, Schutte K, Wigger F, Frank R, Spiess E, Ekblom P, Faissner A. 1996. Tenascin-C contains distinct adhesive, and neurite outgrowth promoting sites for neurons. J Cell Biol 132:681-699.
15. Hwu H-G, Liu C-M, Ou-Yang W-C, Chan H-Y, Chen J-J, Lee SF-C, Hong C-J. 2001. Suggestive evidence for linakge of schizophrenia to NOTCH4 locus at chromosome 6p21 in Taiwaness families. Am J Med Genet (Suppl) 105:571 (Abstr).
16. Jakob H, Beckman H. 1986. Prenatal developmental disturbances in the limbic allocortex in schizophrenics. J Neurol Transm 65:303-326.
17. Jeste DV, Lohr JB. 1989. Hippocampal pathologic findings in schizophrenia. A morphometric study. Arch Gen Psychiatry 46:1019-1024.
18. Kendell RE, Juszczak E, Cole SK. 1996. Obstetric complications and schizophrenia: A case control study based on standarised obstetric records. Br J Psychiatry 168:556-561.
19. Klempan TA, Trakalo JM, Pato CN, Pato M, Azevedo M-H, Macciardi FM, Kennedy JL. 2001. Polymorphisms of the NOTCH4 gene and schizophrenia. Am J Hum Genet (Suppl) 69:567 (Abstr).
20. Mantamadiotis T, Lemberger T, Bleckmann SC, Kern H, Kretz O, Villalba AM, Tronche F, Kellendonk C, Gau D, Kapfhammer J, Otto C, Schmid W, Schütz G. 2002. Disruption of CREB function in brain leads to neurodegeneration. Nat Genet 31:47-54.
21. Marsh L, Suddath RL, Higgins N, Weinberger DR. 1994. Medial temporal lobe structures in schizophrenia: Relationship of size to duration of illness. Schizophr Res 11:225-238.
22. McGinnis RE, Fox H, Yates P, Cameron L-A, Barnes MR, Gray IC, Spurr NK, Hurko O, St. Clair D. 2001. Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland. Nat Genet 28:128-129.
23. McNeill TF. 1995. Perinatal risk factors and schizophrenia. Selective review and methodological concerns. Epidemiol Rev 17:107-112.
24. Mednick SA, Machon RA, Huttunen MO, Bonett D. 1988. Adult schizophrenia following prenatal exposure to an influenza epidemic. Arch Gen Psychiatry 45:189-192.
25. Meiners S, Geller HM. 1997. Long and short splice variants of human tenascin differentially regulate neurite outgrowth. Mol Cell Neurosci 10:100-106.
26. Meiners S, Mercado ML, Nur-e-Kamal MS, Geller HM. 1999. Tenascin-C contains that independently regulate neurite outgrowth and neurite guidance. J Neurosci 19:8443-8453.
27. Mjellem N, Kringlen E. 2001. Schizophrenia: A review, with emphasis on the neurodevelopmental hypothesis. Nord J Psychiatry 55:301-309.
28. Nörenberg U, Wille H, Wolff JM, Frank R, Rathjen FG. 1992. The chicken neural extracellular matrix molecule restrictin: Similarity with EGF-, fibronectin type III-, and fibrinogen-like motifs. Neuron 8:849-863.
29. O'Callaghan E, Larkin C, Kinsella A, Waddington JL. 1991. Familial, obstetric, and other clinical correlates of minor physical anomalies in schizophrenia. Am J Psychiatry 148:479-483.
30. Okugawa G, Sedvall GC, Agartz I. 2002. Reduced grey and white matter volumes in the temporal lobe of male patients with chronic schizophrenia. Eur Arch Psychiatry Clin Neurosci 252:120-123.
31. Parnas J, Jørgensen A. 1989. Pre-morbid psychopathology in schizophrenia spectrum. Br J Psychiatry 155:623-627.
32. Pesheva P, Probstmeier R. 2000. The yin and yang of tenascin-R in CNS development and pathology. Prog Neurobiol 61:465-493.
33. Rigato F, Garwood J, Calco V, Heck N, Faivre-Sarrailh C, Faissner A. 2002. Tenascin-C promotes neurite outgrowth of embryonic hippocampal neurons through the alternatively spliced fibronectin type III BD domains via activation of the cell adhesion molecule F3/contactin. J Neurosci 22:6596-6609.
34. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. 2001. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345: 1167-1175.
35. Schwab SG, Albus M, Hallmayer J, Honig S, Borrmann M, Lichtermann D, Ebstein RP, Ackenheil M, Lerer B, Risch N, Maier W, Wildenauer DB. 1995. Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis. Nat Genet 11:325-327.
36. Sklar P, Schwab SG, Williams NM, Daly M, Schaffner S, Maier W, Albus M, Trixler M, Eichhammer P, Lerer B, Hallmayer J, Norton N, Williams H, Zammit S, Cardno AG, Jones S, McCarthy G, Milanova V, Kirov G, O'Donovan MC, Lander ES, Owen MJ, Wildenauer DB. 2001. Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls. Nat Genet 28:126-127.
37. Skol AD, Young KA, Tsuang DW, Faraone SV, Haverstock SL, Bingham S, Prabhudesai S, Mena F, Menon AS, Yu CE, Rundell P, Pepple J, Sauter F, Baldwin C, Weiss D, Collins J, Keith T, Boehnke M, Schellenberg GD, Tsuang MT. 2003. Modest evidence for linkage and possible confirmation of association of between NOTCH4 and schizophrenia in a large veterans affairs cooperative study sample. Am J Med Genet 118B:8-15.
38. Straub RE, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R, Webb BT, Zhang J, Walsh D, Kendler KS. 1995. A potential vulnerability locus for schizophrenia on chromosome 6p24-22: Evidence for genetic heterogeneity. Nat Genet 11:235-236.
39. Straub RE, Maclean CJ, Kendler KS. 1996. The putative schizophrenia locus on chromosome 6p: A brief overview of the linkage studies. Mol Psychiatry 1:89-92.
40. Strekalova T, Sun M, Sibbe M, Evers M, Dityatev A, Gass P, Schachner M. 2002. Fibronectin domains of extracellular matrix molecular tenascin-C modulate hippocampal learning and synaptic plasticity. Mol Cell Neurosci 21:173-187.
41. Susser E, Lin SP. 1992. Schizophrenia after prenatal exposure to the Dutch Hunger Winter of 1944-45. Arch Gen Psychiatry 49:983-988.
42. Tee MK, Thomson AA, Bristow J, Miller WL. 1995. Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated from of tenascin-X. Genomics 28:171-178.
43. Terwilliger JD, Ott J. 1994. Linkage disequilibrium between alleles at marker loci. In: Handbook for human genetic linkage, 1st edn. Baltimore: Johns Hopkins University Press. pp 188-198.
44. The International SNP Map Working Group. 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928-933.
45. The MHC Sequencing Consortium. 1999. Complete sequence and gene map of a human major histocompatibility complex. Nature 401:921-923.
46. Ujike H, Takehisa Y, Takaki M, Tanaka Y, Nakata K, Takeda T, Kodama M, Fujiwara Y, Yamamoto A, Kuroda S. 2001. NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder. Neurosci Lett 301:41-44.
47. Velakoulis D, Pantelis C, McGorry PD, Dudgeon P, Brewer W, Cook M, Desmond P, Bridle N, Tierney P, Murrie V, Singh B, Copolov D. 1999. Hippocampal volume in first-episode psychoses and chronic schizophrenia: A high-resolution magnetic resonance imaging study. Arch Gen Psychiatry 56:133-141.
48. Wang S, Sun C, Walczak CA, Ziegle JS, Kipps BR, Goldin LR, Diehl SR. 1995. Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nat Genet 10:41-46.
49. Wei J, Hemmings GP. 2000. The NOTCH4 locus is associated with susceptibility to schizophrenia. Nat Genet 25:376-377.
50. Wijesuriya S, Bristow J, Miller W. 2002. Localization and analysis of the principal promoter for human tenascin-X. Genomics 80:443-452.
51. Wright P, Nimgaonkar VL, Donaldson PT, Murray RM. 2001. Schizophrenia and HLA: A review. Schizophr Res 47:1-12.
52. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY. 1999. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). J Biol Chem 274:12147-12156.
53. Young AH, Blackwood DH, Roxborough H, McQueen JK, Martin MJ, Kean D. 1991. A magnetic resonance imaging study of schizophrenia: Brain structure and clinical symptoms. Br J Psychiatry 159: 158-164.
54. Zhang X, Wei J, Yu Y-Q, Liu S-Z, Shi J-P, Liu L-L, Ju G-Z, Yang J-Z, Zhang D, Xu Q, Shen Y, Hemmings GP. 2003. Is NOTCH4 associated with schizophrenia? Psychiatr Genet (in press).