Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 116 B, Issue 1, 2003, Pages 32-35

  De Luca, Alessandro ^a   Conti, Emanuela ^a   Grifone, Nicoletta ^a   Amati, Francesca ^b   Spalletta, Gianfranco ^b,c   Caltagirone, Carlo ^b,c   Bonaviri, Giuseppina ^d   Pasini, Augusto ^b   Gennarelli, Massimo ^e   Stefano, Bignotti ^e   Berti, Lucia ^f   Mittler, Gerhard ^f   Meisterernst, Michael ^f   Dallapiccola, Bruno ^a,g   Novelli, Giuseppe ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^d ASL Frosinone   (Italy)

^e IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Case control; Coactivator; Deletion 22q11; DiGeorge syndrome; PC2; PCQAP; Polyglutamine; Polymorphism; Psychosis; Transcription factors; Velo cardio facial syndrome

Indexed keywords

PC2 GLUTAMINE Q RICH ASSOCIATED PROTEIN; PROTEIN; PROTEIN SUBUNIT; TRINUCLEOTIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHROMOSOME 22Q; CONTROLLED STUDY; DIGEORGE SYNDROME; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; HEMIZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHIZOAFFECTIVE PSYCHOSIS; SCHIZOPHRENIA; TRINUCLEOTIDE REPEAT; VELOCARDIOFACIAL SYNDROME;

EID: 0042326309     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.10008     Document Type: Article

References (20)

1. Bassett AS, Honer WG. 1994. Evidence for anticipation in schizophrenia. Am J Hum Genet 54:864-870.
2. Berti L, Mittler G, Przemeck GK, Stelzer G, Gunzler B, Amati F, Conti E, Dallapiccola B, Hrabe de Angelis M, Novelli G, Meisterernst M. 2001. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit. Genomics 74:320-332.
3. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, Balk KG, Neufeld K, Swartz KL, DeMarchi N, Papadimitriou GN, Dikeos DG, Stefanis CN, Chakravarti A, Childs B, Pulver AE, et al. 1998. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70-73.
4. Chapman DL, Garvey N, Hancock S, Alexiou M, Agulnik SI, Gibson-Brown JJ, Cebra-Thomas J, Bollag RJ, Silver LM, Papaioannou VE. 1996. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn 206:379-390.
5. Crowe RR. 1993. Candidate genes in psychiatry: an epidemiological perspective. Am J Med Genet 48:74-77.
6. De Luca A, Pasini A, Amati F, Botta A, Spalletta G, Alimenti S, Caccamo F, Conti E, Trakalo J, Macciardi F, Dallapiccola B, Novelli G. 2001. Association study of a promoter polymorphism of UFD1L gene with schizophrenia. Am J Med Genet 105:529-533.
7. First MB, Spitzer RL, Williams JBW, Gibbon M. 1995. Structured Clinical Interview for DSM-IV, Patient Edition (SCID-P). Washington, DC: American Psychiatric Press.
8. Gottesman II. 1991. Schizophrenia genesis: the origin of madness. New York: Freeman.
9. Harley HG, Rundle SA, Reardon W, Myring J, Crow S, Brook JD, Harper PS, Shaw DJ. 1992. Unstable DNA sequence in myotonic dystrophy. Lancet 339:1125-1128.
10. Malik S, Roeder RG. 2000. Transcriptional regulation through Mediator-like coactivators in yeast and metazoan cells. Trends Biochem Sci 25:277-283.
11. Malik S, Gu W, Wu W, Qin J, Roeder RG. 2000. The USA-derived transcriptional coactivator PC2 is a submodule of TRAP/SMCC and acts synergistically with other PCs. Mol Cell 5:753-760.
12. Murphy KC, Jones LA, Owen MJ. 1999. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945.
13. Ravassard P, Cote F, Grondin B, Bazinet M, Mallet J, Aubry M. 1999. ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia. Genomics 62:82-85.
14. Saleem Q, Dash D, Gandhi C, Kishore A, Benegal V, Sherrin T, Mukherjee O, Jain S, Brahmachari SK. 2001. Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder. Mol Psychiatry 6:694-700.
15. Sambroock J, Fritsch EF, Maniatis T. 1992. Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
16. Shaw SH, Kelly M, Smith AB, Shields G, Hopkins PJ, Loftus J, Laval SH, Vita A, De Hert M, Cardon LR, Crow TJ, Sherrington R, DeLisi LE. 1998. A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet 81:364-376.
17. Siegal S, Castellan NJ JR. 1988. Nonparametric statistics for the Behavioral Sciences, 2nd Ed. New York: McGraw-Hill. p 128-144.
18. Tsuang MT, Stone WS, Faraone SV. 1999. Schizophrenia: a review of genetic studies. Harv Rev Psychiatry 7:185-207.
19. Wilming LG, Snoeren CA, van Rijswijk A, Grosveld F, Meijers C. 1997. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum Mol Genet 6:247-258.
20. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. 1999. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158-1161.