Molecular mechanisms in 22q11 deletion syndrome

Schizophrenia Bulletin

Volumn 37, Issue 5, 2011, Pages 882-889

  Williams, Nigel M ^a  

^a CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

22q11DS; chromosomal abnormality; deletion; psychosis; schizophrenia

Indexed keywords

CATECHOL METHYLTRANSFERASE; ENZYME; PHOSPHATIDYL INOSITOL 4 KINASE CATALYTIC ALPHA; T BOX TRANSCRIPTION FACTOR; T BOX1 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; CHROMOSOME 16; CHROMOSOME DELETION 22Q11; CHROMOSOME POSITIONING; DNA POLYMORPHISM; GENE DOSAGE; GENE EXPRESSION; GENE LOCUS; HUMAN; MENTAL DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

22Q11 DELETION SYNDROME; CHROMOSOMES, HUMAN, PAIR 22; GENE DELETION; GENE DOSAGE; HUMANS; POLYMORPHISM, GENETIC;

EID: 80052257017     PISSN: 05867614     EISSN: 17451701     Source Type: Journal    
DOI: 10.1093/schbul/sbr095     Document Type: Review

References (53)

1. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9:2421-2426.
2. Bassett AS, Hodgkinson K, Chow EW, et al. 22Q11 Deletion Syndrome in Adults With Schizophrenia. Am J Med Genet. 1998;81:328-337. (Pubitemid 28294816)
3. Pulver AE, Nestadt G, Goldberg R, et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis. 1994;182:476-478. (Pubitemid 24263483)
4. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992;42:141-142.
5. Papolos DF, Faedda GL, Veit S, et al. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry. 1996;153:1541-1547. (Pubitemid 26406163)
6. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999;56:940-945. (Pubitemid 29480131)
7. Shaikh TH, Kurahashi H, Saitta SC, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000;9:489-501. (Pubitemid 30154007)
8. Dunham I, Shimizu N, Roe BA, Chissoe S. The DNA sequence of human chromosome 22. Nature. 1999;402:489-496.
9. The International Schizophrenia Consortium.Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455:237-241.
10. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455:232-236.
11. McGoey RR, Lacassie Y. Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy. Am J Med Genet A. 2009;149A:2538-2542.
12. Shuib S, Abdul Latif Z, Abidin NZZ, Akmal SN, Zakaria Z. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report. Malays J Pathol. 2009;31:133-136.
13. Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson A-C. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51:501-510.
14. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002;3:199-242. (Pubitemid 35217436)
15. Puech A, Saint-Jore B, Funke B, et al. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc Natl Acad Sci USA. 1997;94:14608-14613. (Pubitemid 28041421)
16. Maynard TM, Haskell GT, Peters a Z, et al. A comprehensive analysis of 22q11 gene expression in the developing and adult brain. Proc Natl Acad Sci USA. 2003;100:14433-14438. (Pubitemid 37499254)
17. Amati F, Biancolella M, Farcomeni A, et al. Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene. 2007;391:91-102. (Pubitemid 46356789)
18. Lindsay EA, Botta A, Jurecic V, et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature. 1999;401:379-383. (Pubitemid 29454961)
19. Prescott K, Ivins S, Hubank M, et al. Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome. Hum Genet. 2005;116:486-496. (Pubitemid 41166779)
20. Meechan DW, Tucker ES, Maynard TM, LaMantia A-S. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA. 2009; 106:16434-16445.
21. Sivagnanasundaram S, Fletcher D, Hubank M, et al. Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia. Brain Res. 2007;1139:48-59.
22. Meechan DW, Maynard TM,Wu Y, et al. Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol Cell Neurosci. 2006;33:412-428. (Pubitemid 44820857)
23. Paylor R, Glaser B, Mupo A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA. 2006;103:7729-7734.
24. Stark KL, Xu B, Bagchi A, et al. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet. 2008;40:751-760. (Pubitemid 351748862)
25. Mukai J, Liu H, Burt R a, et al. Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia. Nat Genet. 2004;36:725-731. (Pubitemid 38886634)
26. Gogos J a, Morgan M, Luine V, et al. Catechol-O-methyltransferase- deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci USA. 1998;95:9991-9996.
27. Hsu R, Woodroffe A, Lai W-S, et al. Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches. PloS one. 2007;2:e1234.
28. Suzuki G, Harper KM, Hiramoto T, et al. Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice. Hum Mol Genet. 2009;18:1652-60.
29. Lindsay EA, Vitelli F, Su H, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97-101. (Pubitemid 32225843)
30. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27:286-291. (Pubitemid 32201849)
31. Merscher S, Funke B, Epstein JA, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001;104:619-629. (Pubitemid 32201955)
32. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. The Lancet. 2003;362:1366-1373. (Pubitemid 37338337)
33. Paylor R, McIlwain KL, McAninch R, et al. Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum Mol Genet. 2001;10:2645-2650. (Pubitemid 33133405)
34. Paterlini M, Zakharenko SS, Lai W-S, et al. Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci. 2005;8:1586-1594. (Pubitemid 41573674)
35. Torres-Juan L, Rosell J, Morla M, et al. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007;15:658-663. (Pubitemid 46825055)
36. Stranger BE, Forrest MS, Dunning M, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007;315:848-853.
37. Hiroi N, Zhu H, Lee M, et al. A 200-kb region of human chromosome 22q11. 2 confers antipsychotic-responsive behavioral abnormalities in mice. Proc Natl Acad Sci USA. 2005;102:2-7.
38. Suzuki G, Harper KM, Hiramoto T, et al. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Hum Mol Genet. 2009;18:3914-3925.
39. Stark KL, Burt RA, Gogos JA, Karayiorgou M. Analysis of prepulse inhibition in mouse lines overexpressing 22q11.2 orthologues. Int J Neuropsychopharmacol. 2009;12: 983-989.
40. Kurotaki N, Shen JJ, Touyama M, et al. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005;7:479-483. (Pubitemid 41445488)
41. Tenhunen J, Salminen M, Lundström K, et al. Genomic organization of the human catechol O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem. 1994;223:1049-1059. (Pubitemid 24263190)
42. Chen J, Lipska BK, Halim N, et al. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet. 2004;75: 807-821. (Pubitemid 39390488)
43. Dunham I, Collins J, Wadey R, Scambler P. Possible role for COMTin psychosis associated with velo-cardio-facial syndrome. Lancet. 1992;340:1361-1362.
44. Gothelf D, Eliez S, Thompson T, et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005;8:1500-1502. (Pubitemid 41573663)
45. Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EWC. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry. 2007;61:1135-1140. (Pubitemid 46669459)
46. Jungerius BJ, Hoogendoorn MLC, Bakker SC, et al. An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. Mol Psychiatry. 2008;13:1060-1068.
47. Kanahara N, Iyo M, Hashimoto K. Failure to confirm the association between the PIK4CA gene and schizophrenia in a Japanese population. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:450-452.
48. Vorstman JAS, Chow EW, Ophoff RA, et al. Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:430-433.
49. Ikeda M, Williams N, Williams HJ, et al. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:980-982.
50. Williams NM, Glaser B, Norton N, et al. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet. 2008;17:555-566. (Pubitemid 351201768)
51. Birchler JA, Riddle NC, Auger DL, Veitia RA. Dosage balance in gene regulation: biological implications. Trends Genet. 2005;21:219-226. (Pubitemid 40387899)
52. Fénelon K, Mukai J, Xu B, et al. Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci USA. 2011;108:4447-4452.
53. Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126:663-676. (Pubitemid 44233629)