No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia

Molecular Psychiatry

Volumn 2, Issue 6, 1997, Pages 478-482

  Jones, A L ^a   Middle, F ^a   Guy, C ^a   Spurlock, G ^a   Cairns, N J ^b   McGuffin, P ^a   Craddock, N ^a   Owen, M ^a   O'Donovan, M C ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Bipolar disorder; mab1C2; Polyglutamine; Schizophrenia; Trinucleotide repeat

Indexed keywords

ANTIBODY; GLUTAMINE; TATA BINDING PROTEIN; POLYAMINOACID; PROTEIN ANTIBODY;

ADULT; ARTICLE; AUTOPSY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRONTAL CORTEX; HUMAN; IMMUNOBLOTTING; LYMPHOBLASTOID CELL LINE; MALE; MANIC DEPRESSIVE PSYCHOSIS; PRIORITY JOURNAL; SCHIZOPHRENIA; TRINUCLEOTIDE REPEAT; HUMAN CELL; HUMAN TISSUE;

EID: 0031415105     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000297     Document Type: Article

References (30)

1. McGuffin P, Owen MJ, O'Donovan MC, Thapar A, Gottesman II. Seminars in Psychiatric Genetics. Gaskell Press: London, 1994.
2. McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, Depaulo Jr JR. Anticipation in bipolar affective disorder. Am J Hum Genet 1993; 53: 385-930.
3. Asherson P, Walsh C, Williams J, Sargeant M, Taylor C, Clements A, Gill M, Owen M, McGuffin P. Imprinting and anticipation - are they relevant to genetic studies of schizophrenia? Br J Psychiatry 1994; 164: 619-624.
4. Bassett AS, Honer WG. Evidence for anticipation in schizophrenia. Am J Hum Genet 1994; 54: 864-870.
5. Nylander P-O, Engstrom C, Chotai J, Wahlstrom J, Adolfsson R. Anticipation in Swedish families with bipolar affective disorder. J Med Genet 1994; 31: 686-689.
6. Thibaut F, Martinez M, Petit M, Jay M, Campion D. Further evidence for anticipation in schizophrenia. Psychiat Res 1995; 59: 25-33.
7. Yaw J, Myles-Worsley M, Hoff M, Holik J, Freedman R, Byerley W, Coon H. Anticipation in multiplex schizophrenia pedigrees. Psychiatric Genet 1996; 6: 7-11.
8. O-Donovan MC, Owen MJ. Dynamic mutations and psychiatric genetics. Psychol Med 1996; 26: 1-6.
9. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AC, Jones LA, Owen MJ, McGuffin P. Expanded CAG repeats in schizophrenia and bipolar disorder. Nature Genet 1995; 10: 380-381.
10. Lindblad K, Nylander P-O, De Bruyn A, Sourey D, Zander C, Engstrom C, Holmgren G, Hudson T, Chotai J, Mendlewicz J, Van Broeckhoven C, Schalling M, Adolfsson R. Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method. Neurobiol Dis 1995; 2: 55-62.
11. Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM. CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum Molec Genet 1995; 4: 1957-1961.
12. O'Donovan MC, Guy C, Craddock N, Bowen T, McKeon P, Macedo A, Maier W, Wildenauer D, Aschauer HN, Sorbi S, Feldman E, Mynett-Johnson L, Claffey E, Nacmias B, Valente J, Dourado A, Grassi E, Lenzinger E, Heiden AM, Moorhead S, Harrison D, Williams J, McGuffin P, Owen MJ. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol Med 1996; 26: 1145-1153.
13. Vincent JB, Klempan T, Parikh SS, Sasaki T, Meltzer HY, Sirugo G, Cola P, Petronis A, Kennedy JL. Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder. Mol Psychiatry 1996; 1: 141-148.
14. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel J-L. Polyglutamine expansion as a pathological epitope in Huntingdon's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-406.
15. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 3rd edn, revised. American Psychiatric Association: Washington DC, 1987.
16. Peterson CL. A simplification of the protein assay method of Lowry et al which is more generally applicable. Anal Biochem 1977; 83: 346-356.
17. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-685.
18. Towbin H, Staehlin T, Gorden J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and applications. Proc Natl Acad Sci USA 1979; 76: 4350-4354.
19. Wood J, MacMillan JC, Harper PS, Lowenstein PR, Jones AL. Partial characterisation of murine huntingtin and apparent variation in the subcellular localisation of brain. Hum Molec Genet 1996; 5: 481-487.
20. Trottier Y, Didier D, Imbert C, Saudou F, An I, Lutz Y, Weber C, Agrid Y, Hirsch EC, Mandel JL. Cellular localisation of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet 1995; 10: 104-110.
21. Bowen T, Guy C, Speight G, Jones L, Cardno A, Murphy K, McGuffin P, Owen MJ, O'Donovan MC. Expansion of 50 CAG/CTG repeats excluded in schizophrenia by application of a highly efficient approach using RED and a PCR screening set. Am J Hum Genet 1996; 59: 912-917.
22. McLaughlin BA, Spencer C, Eberwine J. CAG trinucleotide RNA repeats interact with RNA-binding proteins. Am J Hum Genet 1996; 59: 561-569.
23. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.
24. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavaicanti F, Monros E, Rodlus F, Duclos F, Monticalii A, Zara F, Cahizaree J, Koutnikova H, Bidichandani SI, Gellera G, Brice A, Trouillas P, Michele G, Filla A, Frutos R, Palau F, Patel PI, Donato S, Mandel J-L, Cocazza S, Koenig M, Pandolfo M, Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-1427.
25. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zughbi HY. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet 1995; 10: 94-98.
26. Yazawa I, Nukina N, Hideji H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubralpallidoluysian atrophy (DRPLA) brain. Nature Genet 1995; 10: 99-103.
27. Weinberger DR. From neuropathology to neurodevelopment. Lancet 1995; 346: 552-557.
28. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J-M, Weber C, Mandel J-L, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar atazia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 1996; 14: 285-291.
29. 1A-voltage-dependent calcium channel. Nature Genet 1997; 15: 62-69.
30. Pyertiz RE. Formal genetics in humans: Mendelian and nonmendalian inheritance. In: McHugh PR, McKusick VA (eds). Genes, Brain and Behaviour. Raven Press: New York, 1991, pp 47-74.