Triplet repeats, neurodegenerative and neuropsychiatric diseases: Mechanisms and candidate genes;Triplets répétés, maladies neurodégénératives et psychiatriques : Mécanismes et gènes candidats

Medecine/Sciences

Volumn 12, Issue 12, 1996, Pages 1361-1369

  Néri, Christian ^b   Cann, Howard M ^b   Dausset, Jean ^a,b  

^a l'alimentation et l'Environnement   (France)

^b FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA;

COMPLEMENTARY DNA; POLYGLUTAMIC ACID; REPETITIVE DNA;

CEREBELLAR ATAXIA; CODON; DEGENERATIVE DISEASE; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; INTRON; MANIC DEPRESSIVE PSYCHOSIS; MOLECULAR CLONING; MULTIFACTORIAL GENETIC DISORDER; NERVE DEGENERATION; NEUROPSYCHIATRY; PROTEIN PROTEIN INTERACTION; REVIEW; SCHIZOPHRENIA; SPINOCEREBELLAR TRACT;

EID: 0030462981     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.4267/10608/678     Document Type: Article

References (50)

1. Willems PJ. Dynamic mutations hit double figures. Nature Genet 1994; 8: 213-5.
2. Campuzano V, Montermini L, Dolores Moltò M, Pianese L, Cossée M, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-7.
3. Koenig M, Campuzano V, Cossée M, Mandel JL. Ataxie de Friedreich: les expansions frappent encore. médecine/sciences 1996; 12: 431-5.
4. 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 JL. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutant form. Nature Genet 1995; 10: 104-10.
5. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY. Expression analysis of the ataxin-I protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet 1995; 10: 94-8.
6. Wells RD. Molecular basis of genetic instability of triplet repeats. J Biol Chem 1996 ; 271: 2875-8.
7. Nelson DL. Allelic expansion underlies many genetic diseases. Growth Genet Horm 1996; 12: 1-4.
8. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 1995; 81: 533-40.
9. Eichler EE, Mac Pherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet 1996; 5 : 319-30.
10. Brown XT, Zhong N, Dodkin C. Positive fragile X microsatellite associations point to a common mechanism of dynamic mutation evolution. Am J Hum Genet 1996; 58: 641-3.
11. Sutherland GR, Richards RI. Simple tandem DNA repeats and human genetic diseases. Proc Natl Acad Sci USA 1995; 92: 3636-41.
12. Takiyama Y, Igarashi S, Rogeava EA, Endo K, Rogaev EI, et al. Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for the conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995; 4: 1137-46.
13. Djian P, Hancock JM, Chana S. Codon repeats in genes associated with human diseases: fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration. Proc Natl Acad Sci USA 1996; 93: 417-21.
14. Limprasert P, Nouri N, Heyman RA, Nopparatana C, Kamonsilp M, Deininger PL, Keats BJB. Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats. Hum Mol Genet 1996; 5: 207-13.
15. Housman D. Gain of glutamines, gain of function? Nature Genet 1995; 10: 3-4.
16. Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995; 15: 493-6.
17. Li XJ, Li S-H, Sharp AH, Nucifora Jr FC, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA. A Huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995; 378: 398-402.
18. Ikeda H, Yamagushi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet 1996; 13: 196-202.
19. Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995; 82: 937-48.
20. Stott K, Blackburn JM, Butler PJG, Perutz M. Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc Natl Acad Sci USA 1995; 92: 6509-13.
21. Green H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 1993; 74: 955-6.
22. Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature Genet 1995; 11: 155-63.
23. Burke JR, Enghild JJ, Martin ME, Jou YS, Myers RM, Roses AD, Vance JM, Strittmatter WJ. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med 1996; 2: 347-50.
24. Bao J, Sharp AH, Wagster MV, Becher M, Schilling G, Ross CA, Dawson VL, Dawson TM. Expansion of polyglutamine repeat in Huntingtin leads to abnormal protein interactions involving calmodulin. Proc Natl Acad Sci USA 1996; 93: 5037-42.
25. Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet 1993; 4: 135-9.
26. Haaf T, Sirugo G, Kidd KK, Ward DC. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Nature Genet 1996; 12: 183-5.
27. Gispert S, Lunkes A, Santos N, Orozco G, Ha-Hao D, et al. Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. Am J Hum Genet 1995; 57: 972-5.
28. Benomar A, Krols L, Stevanin G, Cancel G, Le Guern E, et al. The gene for autosomal dominant cerebellar with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet 1995; 10: 84-8.
29. Lindblad K, Nylander PO, De Bruyn A, Sourey D, Zander C, et al. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Disease 1995; 2: 55-62.
30. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AG, Jones LA, Oven MJ, McGuffin P. Expanded CAG repeats in schizophrenia and bipolar disorders. Nature Genet 1995; 10: 380-1.
31. Thibault F, Martinez M, Petit M, Jay M, Campion D. Further evidence for anticipation in schizophrenia. Psychiatry Research 1995; 59: 25-33.
32. 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 Mol Genet 1995; 4: 1957-61.
33. Tsuang MT, Faraone SV, Lyons MJ. Identification of the phenotype in psychiatric genetics. Eur Arch Psychiatry Clin Neurosci 1993; 243: 131-42.
34. Spence MA, Bishop DT, Boehnke M, Elston RC, Falk C, Hodge SE, Ott J, Rice J, Merikangas K, Kupfer D. Methodological issues in linkage analyses for psychiatric disorders: secular trends, assortative mating, bilineal pedigrees. Report of the McArthur Foundation Network I Task Force on Methodological Issues. Hum Hered 1995; 43: 166-72.
35. Moises HW, Yang L, Kristbjarnarson H, Wiese C, Byerley W, et al. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nature Genet 1995; 11: 3214.
36. Rish N, Botstein D. A manic depressive history. Nature Genet 1996; 12: 351-3.
37. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CSJ, et al. A genome-wide search for chromosomal locci linked to bipolar affective disorder in the Old Order Amish. Nature Genet 1996; 12: 431-5.
38. Freimer NB, Reus VI, Escamilla ME, McInnes LA, Spesny M, et al. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nature Genet 1996; 12: 436-41.
39. Broude NE, Chandra A, Smith CL. Differential display of trinucleotide repeat-containing sequences in human genome. In: Bentley D, Green E, Waterson R, ed. Genome Mapping and Sequencing. New York: Cold Spring Harbor, 1995: 41.
40. II dynamic mutations. Genomics 1996; 32: 75-85.
41. Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 1993; 16: 572-9.
42. Riggins GJ, Lokey LR, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD, Warren S. Human genes containing polymorphic trinucleotide repeats. Nature Genet 1992; 2: 186-91.
43. Jordan B. La valse des étiquettes. médecine/sciences 1995; 11: 273-6.
44. Chumakov I, Rigault P, Le Gall I, Bellanne-Chantelot C, Billault A, et al. A YAC contig map of the human genome. Nature 1995; 377: 174-82.
45. Néri C, Albanese V, Lebre AS, Holbert S, Saada C, et al. Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological diseases. Hum Mol Genet 1996; 5: 1001-9.
46. Margolis RL, Breshel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA. Characterization of cDNA clones containing cDNA CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet 1995; 21: 279-84.
47. Davidson JD, Servadio A, Duvick, Zoghbbi HY, Orr HT, Burright EN. Characterization of ataxin-1 self-interactions and identification of genes encoding putative interacting proteins. Proc Am Soc Hum Genet 1995: abstract no 197.
48. Fields S, Song OK. A novel genetic system to detect protein-protein interactions. Nature 1989; 340: 245-6.
49. Plessis A, Camonis JH. Le système double-hybride, mode d'emploi. médecine/ sciences 1994; 10: I-IX.
50. Chabala JC. Solid-phase combinatorial chemistry and novel tagging methods for identifying leads. Curr Opin Biotechnol 1995; 6: 632-9.