Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects

Schizophrenia Research

Volumn 88, Issue 1-3, 2006, Pages 275-282

  Passos Gregorio, Sheila ^a   Gattaz, Wagner F ^a   Tavares, Hildeberto ^a   Kieling, Christian ^b   Timm, Sally ^c   Wang, August G ^d   Berg Rasmussen, Henrik ^e   Werge, Thomas ^e   Dias Neto, Emmanuel ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c FREDERIKSBERG HOSPITAL   (Denmark)

^d AMAGER HOSPITAL   (Denmark)

^e Mental Health Center Glostrup   (Denmark)

Author keywords

DNA polymorphism; Microsatellite; Notch; NUMBL; Schizophrenia; SNP

Indexed keywords

JAGGED2 PROTEIN; MEMBRANE PROTEIN; MICROSATELLITE DNA; NOTCH RECEPTOR; NOTCH2 RECEPTOR; NOTCH3 RECEPTOR; POLYGLUTAMINE; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BRAZIL; COHORT ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BRAZIL; DENMARK; DNA PRIMERS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, NOTCH; SCHIZOPHRENIA;

EID: 33751191400     PISSN: 09209964     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.schres.2006.06.036     Document Type: Article

References (41)

1. Altshuler D., Brooks L.D., Chakravarti A., Collins F.S., Daly M.J., and Donnelly P. International HapMap consortium. A haplotype map of the human genome. Nature 437 (2005) 1299-1320
2. Apelqvist A., Li H., Sommer L., Beatus P., Anderson D.J., Honjo T., et al. Notch signalling controls pancreatic cell differentiation. Nature 400 (1999) 877-881
3. Bailer U., Leisch F., Meszaros K., Lenzinger E., Willinger U., Strobl R., et al. Genome scan for susceptibility loci for schizophrenia. Neuropsychobiology 42 (2000) 175-182
4. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 2 (2005) 263-265
5. Chiu Y.F., McGrath J.A., Thornquist M.H., Wolyniec P.S., Nestadt G., Swartz K.L., et al. Genetic heterogeneity in schizophrenia. II. Conditional analyses of affected schizophrenia sibling pairs provide evidence for an interaction between markers on chromosome 8p and 14q. Mol. Psychiatry 7 (2002) 658-664
6. Costa R.M., Drew C., and Silva A.J. Notch to remember. Trends Neurosci. 28 (2005) 429-435
7. De Bellard M.E., Ching W., Gossler A., and Bronner-Fraser M. Disruption of segmental neural crest migration and ephrin expression in delta-1 null mice. Dev. Biol. 249 (2002) 121-130
8. Everett C.M., and Wood N.W. Trinucleotide repeats and neurodegenerative disease. Brain 127 (2004) 2385-2405
9. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., Higgins J., et al. The structure of haplotype blocks in the human genome. Science 296 5576 (2002) 2225-2229
10. Gottesman I.I. Schizophrenia Genesis: the Origins of Madness (1990), W.H. Freeman & Company, USA
11. Harrison P.J. The neuropathology of schizophrenia. A critical review of the data and their interpretation. Brain 122 (1999) 593-624
12. Horton S., Meredith A., Richardson J.A., and Johnson J.E. Correct coordination of neuronal differentiation events in ventral forebrain requires the bHLH factor MASH1. Mol. Cell. Neurosci. 14 (1999) 355-369
13. Hrabe de Angelis M., McIntyre J., and Gossler A. Maintenance of somite borders in mice requires the Delta homologue DII1. Nature 386 (1997) 717-721
14. Irvin D.K., Zurcher S.D., Nguyen T., Weinmaster G., and Kornblum H.I. Expression patterns of Notch1, Notch2, and Notch3 suggest multiple functional roles for the Notch-DSL signaling system during brain development. J. Comp. Neurol. 436 (2001) 167-181
15. Ito H., Nakajima A., Nomoto H., and Furukawa S. Neurotrophins facilitate neuronal differentiation of cultured neural stem cells via induction of mRNA expression of basic helix-loop-helix transcription factors Mash1 and Math1. J. Neurosci. Res. 71 (2003) 648-658
16. Jakobsen K.D., Frederiksen J.N., Hansen T., Jansson L.B., Parnas J., and Werge T. Reliability of clinical ICD-10 schizophrenia diagnoses. Nord. J. Psychiatry 59 (2005) 209-212
17. Kiernan A.E., Ahituv N., Fuchs H., Balling R., Avraham K.B., Steel K.P., et al. The Notch ligand Jagged1 is required for inner ear sensory development. Proc. Natl. Acad. Sci. 98 (2001) 3873-3878
18. Kim S.K., and Hebrok M. Intercellular signals regulating pancreas development and function. Genes Dev. 15 (2001) 111-127
19. Kitamoto T., Takahashi K., Takimoto H., Tomizuka K., Hayasaka M., Tabira T., et al. Functional redundancy of the Notch gene family during mouse embryogenesis: analysis of Notch gene expression in Notch3-deficient mice. Biochem. Biophys. Res. Commun. 331 (2005) 1154-1162
20. Kohn Y., and Lerer B. Genetics of schizophrenia: a review of linkage findings. Isr. J. Psychiatry Relat. Sci. 39 (2002) 340-351
21. Kopan R., and Turner D.L. The Notch pathway: democracy and aristocracy in the selection of cell fate. Curr. Opin. Neurobiol. 6 (1996) 594-601
22. Lagas P.A., and Juvonen V. Schizophrenia in a patient with cerebral autosomally dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL disease). Nord. J. Psychiatry 55 (2001) 41-42
23. Laitinen J., Samarut J., and Holtta E. A nontoxic and versatile protein salting-out method for isolation of DNA. Biotechniques 17 (1994) 316-322
24. Lewis C.M., Levinson D.F., Wise L.H., DeLisi L.E., Straub R.E., Hovatta I., et al. Genome scan meta-analysis of schizophrenia and bipolar disorder. Part II: schizophrenia. Am. J. Hum. Genet. 73 1 (2003) 34-48
25. Li H.S., Wang D., Shen Q., Schonemann M.D., Gorski J.A., Jones K.R., Temple S., Jan L.Y., and Jan Y.N. Inactivation of Numb and Numblike in embryonic dorsal forebrain impairs neurogenesis and disrupts cortical morphogenesis. Neuron 40 (2003) 1105-1118
26. Macgregor S., Visscher P.M., Knott S.A., Thomson P., Porteous D.J., Millar J.K., et al. A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42. Mol. Psychiatry 9 (2004) 1083-1090
27. McCarley R.W., Wible C.G., Frumin M., Hirayasu Y., Levitt J.J., Fischer I.A., et al. MRI anatomy of schizophrenia. Biol. Psychiatry 45 (1999) 1099-1119
28. McGuffin P., Tandon K., and Corsico A. Linkage and association studies of schizophrenia. Curr. Psychiatry Rep. 5 (2003) 121-127
29. Petersen P.H., Zou K., Hwang J.K., Jan Y.N., and Zhong W. Progenitor cell maintenance requires Numb and Numblike during mouse neurogenesis. Nature 419 (2002) 929-934
30. Przemeck G.K., Heinzmann U., Beckers J., and Hrabe de Angelis M. Node and midline defects are associated with left-right development in Delta1 mutant embryos. Development 130 (2003) 3-13
31. Reddy P.S., and Housman D.E. The complex pathology of trinucleotide repeats. Curr. Opin. Cell Biol. 9 (1997) 364-372
32. Roegiers F., and Jan Y.N. Asymmetric cell division. Curr. Opin. Cell Biol. 16 2 (2004) 195-205
33. Sade H., Krishna S., and Sarin A. The anti-apoptotic effect of Notch-1 requires p56lck-dependent, Akt/PKB-mediated signaling in T cells. J. Biol. Chem. 279 (2004) 2937-2944
34. Sestan N., Artavanis-Tsakonas S., and Rakic P. Contact-dependent inhibition of cortical neurite growth mediated by Notch signaling. Science 286 (1999) 741-746
35. Shenton M.E., Dickey C.C., Frumin M., and McCarley R.W. A review of MRI findings in schizophrenia. Schizophr. Res. 49 (2001) 1-52
36. Shimizu K., Chiba S., Saito T., Kumano K., Hamada Y., and Hirai H. Functional diversity among Notch1, Notch2, and Notch3 receptors. Biochem. Biophys. Res. Commun. 291 (2002) 775-779
37. Usdin K., and Grabczyk E. DNA repeat expansions and human disease. Cell. Mol. Life Sci. 57 (2000) 914-931
38. Yoon K., and Gaiano N. Notch signaling in the mammalian central nervous system: insights from mouse mutants. Nat. Neurosci. 8 (2005) 709-715
39. Zhong W., Feder J.N., Jiang M.M., Jan L.Y., and Jan Y.N. Asymmetric localization of a mammalian Numb homolog during mouse cortical neurogenesis. Neuron 17 (1996) 43-53
40. Zhong W., Jiang M.M., Schonemann M.D., Meneses J.J., Pedersen R.A., Jan L.Y., and Jan Y.N. Mouse Numb is an essential gene involved in cortical neurogenesis. Proc. Natl. Acad. Sci. U. S. A. 97 (2000) 6844-6849
41. Zilian O., Saner C., Hagedorn L., Lee H.Y., Sauberli E., Suter U., Sommer L., and Aguet M. Multiple roles of mouse Numb in tuning developmental cell fates. Curr. Biol. 11 (2001) 494-501