Molecular interpretation of expanded RED products in bipolar disorder by CAG/CTG repeats located at chromosomes 17q and 18q

Neurobiology of Disease

Volumn 6, Issue 5, 1999, Pages 424-432

  Verheyen, Geert R ^a   Del Favero, Jurgen ^a   Mendlewicz, Julien ^b   Lindblad, Kerstin ^c   Van Zand, Karel ^a   Aalbregtse, Mireille ^a   Schalling, Martin ^c   Souery, Daniel ^b   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Association analysis; Bipolar disorder; CTG18.1; ERDA1; Pedigrees; Repeat expansion detection; Triplet repeat

Indexed keywords

ADULT; AGED; ALLELE; ANTICIPATION; ARTICLE; CHROMOSOME 17Q; CHROMOSOME 18Q; CHROMOSOME SIZE; CONTROLLED STUDY; FEMALE; GENE LOCATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MANIC DEPRESSIVE PSYCHOSIS; NUCLEOTIDE REPEAT; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0032720188     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1999.0258     Document Type: Article

References (30)

1. Andreasen N. C., Endicott J., Spitzer R. L., Winokur G. The family history method using diagnostic criteria: Reliability and validity. Arch. Gen. Psychiatry. 34:1997;1229-1235.
2. 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. 164:1994;619-624.
3. Breschel T. S., McInnis M. G., Margolis R. L., Sirugo G., Corneliussen B., Simpson S. G., McMahon F. J., MacKinnon D. F., Xu J. F., Pleasant N., Huo Y., Ashworth R. G., Grundstrom C., Grundstrom T., Kidd K. K., DePaulo J. R., Ross C. A. A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Hum. Mol. Genet. 6:1997;1855-1863.
4. De bruyn A., Mendelbaum K., Sandkuijl L. A., Delvenne V., Hirsch D., Staner L., Mendlewicz J., Van Broeckhoven C. Nonlinkage of bipolar illness to tyrosine hydroxylase, tyrosinase, and D2 and D4 dopamine receptor genes on chromosome 11. Am. J. Psychiatry. 151:1994;102-106.
5. De bruyn A., Souery D., Mendelbaum K., Mendlewicz J., Van Broeckhoven C. Linkage analysis of families with bipolar illness and chromosome 18 markers. Biol. Psychiatry. 39:1996;679-688.
6. Engström C., Johansson E. L., Langström M., Thorlund A. S., Chotai J., Adolfsson R., Nylander P.-O. Anticipation in unipolar affective disorder. J. Affect. Dis. 35:1995;31-40.
7. Ikeuchi T., Sanpei K., Takano H., Sasaki H., Tashiro K., Cancel G., Brice A., Bird T. D., Schellenberg G. D., Pericak-Vance M. A., Welsh-Bohmer K. A., Clark L. N., Wilhelmsen K., Tsuji S. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics. 49:1998;321-326.
8. Jain S., Leggo J., DeLisi L. E., Crow T. J., Margolis R. L., Li S.-H., Goodburn, Walsh C., Paykel E. S., Ferguson-Smith M. A., Ross C. A., Rubinsztein D. C. Analysis of thirteen trinucleotide repeat loci as candidate genes for schizophrenia and bipolar affective disorder. Am. J. Med. Genet. (Neurophsyhiatr. Genet.). 67:1996;139-146.
9. Lindblad K., Nylander P.-O., De bruyn A., Souery D., Zander C., Engström C., Holmgren G., Hudson T., Chotai J., Mendlewicz J., Van Broeckhoven C., Schalling M., Adolfsson R. Detection of extended CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol. Dis. 2:1995;55-62.
10. Lindblad K., Schalling M. Clinical implications of unstable DNA repeat sequences. Acta Paediatr. 85:1996;265-271.
11. Lindblad K., Nylander P.-O., Zander C., Yuan Q. P., Stahle L., Engstrom C., Balciuniene J., Pettersson U., Breschel T., McInnis M., Ross C. A., Adolfsson R., Schalling M. Two commonly expanded CAG/CTG repeat loci: Involvement in affective disorders. Mol. Psychiatry. 3:1998;405-410.
12. McGuffin P., Owen M. J., O'Donovan M. C., Thapar A., Gottesman I. I. Affective disorders: In: McGuffin P., Owen M. J., O'Donovan M. C., Gottesman I. I. Seminars in Psychiatric Genetics. 1994;110-127 Gaskell, London.
13. McInnis M. G. Anticipation: An old idea in new genes. Am. J. Hum. Genet. 59:1996;973-979.
14. McInnis M. G., McMahon F. J., Chase G. A., Simpson S. G., Ross C. A., DePaulo J. R. Anticipation in bipolar affective disorder. Am. J. Hum. Genet. 53:1993;385-390.
15. Mendlewicz J. The search for a manic depressive gene: From classical to molecular genetics. Prog. Brain Res. 100:1994;225-259.
16. Mendlewicz J., Leboyer M., De bruyn A., Malafosse A., Sevy S., Hirsch D., Van Broeckhoven C., Mallet J. Absence of linkage between chromosome 11p15 markers and manic-depressive illness in a Belgian pedigree. Am. J. Psychiatry. 148:1991;1683-1687.
17. Mendlewicz J., Lindblad K., Souery D., Mahieu B., Nylander P. O., De bruyn A., Zander C., Engström C., Adolfsson R., Van Broeckhoven C., Schalling M., Lipp O. Expanded trinucleotide CAG repeats in families with bipolar affective disorder. Biol. Psychiatry. 42:1997;1115-1122.
18. Nakamoto M., Takebayashi H., Kawaguchi Y., Narumiya S., Taniwaki M., Nakamura Y., Ishikawa Y., Akiguchi I., Kimura J., Kakizuka A. A CAG/CTG expansion in the normal population. Nat. Genet. 17:1997;385-386.
19. Nylander P.-O., Engström C., Chotai J., Wahlström J., Adolfsson R. Anticipation in Swedish families with bipolar affective disorder. J. Med. Genet. 31:1994;686-689.
20. O'Donovan M. C., Guy C., Craddock N., Murphy K. C., Cardno A. G., Jones L. A., Owen M. J., McGuffin P. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat. Genet. 10:1995;380-381.
21. O'Donovan M. C., Guy C., Craddock N., Bowen T., McKeon P., Macedo A., Maier W., Wildenauer D., Aschauer H. N., Sorbi S., Feldman E., Mynett-Johnson L., Claffey E., Nacmias B., Valente J., Dourado A., Grassi E., Lenzinger E., Heiden A. M., Moorhead S., Harrison D., Williams J., McGuffin P., Owen M. J. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol. Med. 26:1996;1145-1153.
22. Oruč L., Lindblad K., Verheyen G. R., Ahlberg S., Jakovljević M., Ivezić S., Raeymaekers P., Van Broeckhoven C., Schalling M. CAG repeat expansions in bipolar and unipolar disorders. Am. J. Hum. Genet. 60:1997;730-732.
23. Petronis A., Kennedy J. L. Unstable genes - Unstable mind. Am. J. Psychiatry. 152:1995;164-172.
24. Raymond M., Rousset F. GENEPOP (version 1.2): A population genetics software for exact tests and ecumenicism. J. Hered. 86:1995;248-249.
25. Schalling M., Hudson T. J., Buetow K. H., Housman D. E. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat. Genet. 4:1993;135-139.
26. Sidransky E., Burgess C., Ikeuchi T., Lindblad K., Long R. T., Philibert R. A., Rapoport J., Schalling M., Tsuji S., Ginns E. I. A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. Am. J. Hum. Genet. 62:1998;1548-1551.
27. Speight G., Guy C., Bowen T., Asherson P., McGuffin P., Craddock N., Owen M. J., O'Donovan M. C. Exclusion of CAG/CTG trinucleotide repeat loci which map to chromosome 4 in bipolar disorder and schizophrenia. Am. J. Med. Genet. (Neuropsychiatr. Genet.). 74:1997;206-206.
28. Spitzer R. L., Endicott J., Robins E. Research diagnostic criteria: Rationale and reliability. Arch. Gen. Psychiatry. 35:1978;773-782.
29. Spitzer R. L., Endicott J. A. The Schedule for Affective Disorders and Schizophrenia Life Time Version. 1977;New York State Psychiatric Institute, New York.
30. Verheyen G. R., Villafuerte S. M., Del-Favero J., Souery D., Mendlewicz J., Raeymaekers P., Van Broeckhoven C. Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder. Eur. J. Hum. Genet. 7:1998;427-434.