Glutamine repeats and inherited neurodegenerative diseases: Molecular aspects

Current Opinion in Structural Biology

Volumn 6, Issue 6, 1996, Pages 848-858

  Perutz, M F ^a  

^a MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; MUTANT PROTEIN; NERVE PROTEIN; REPETITIVE DNA;

ATAXIA; CHO CELL; CYTOTOXICITY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DNA SEQUENCE; ESCHERICHIA COLI; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUNTINGTON CHOREA; HYDROGEN BOND; MACHADO JOSEPH DISEASE; MOUSE; NERVE DEGENERATION; NONHUMAN; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN FOLDING; REVIEW; SPINOCEREBELLAR DEGENERATION; STRUCTURE ACTIVITY RELATION; TRANSGENIC MOUSE;

ATAXIA; ESCHERICHIA COLI; MUS MUSCULUS;

EID: 0030470459     PISSN: 0959440X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-440X(96)80016-9     Document Type: Article

References (62)

1. 1. Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's Disease chromosomes. Cell 1993, 72:971-983. This paper reports the discovery of the gene for Huntington's disease, and shows that the only difference between the normal gene and the gene in affected patients consists in an expansion of a long repeat of CAGs, coding for a repeat of glutamines close to the amino terminus of the protein encoded by the gene.
2. 2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H et al.: 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, 8:799-906.
3. 3. Fu Y-H, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J et al.: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255:1256-1258.
4. 4. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G et al.: Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992, 255:1253-1255.
5. 5. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A et al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell 1991, 65:905-914.
6. 6. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sulcliffe JS, Richards S et al.: Variation of the CGG repeat at the Fragile X site results in genetic instability: resolution of the Sherman Paradox. Cell 1991, 57:1047-1058.
7. 7 La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fishbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
8. 8. Kawaguchi Y, Okamoto T, Taniwaki A, Aizawa W, Inoue M, Katayama S et al.: CAG expansions in a novel gene for Machado-Joseph Disease at chromosome 14q32.1. Nat Genet 1994, 8:221-227.
9. 9. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K et al.: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994, 6:9-13.
10. 10. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M et al.: Dentatorubral and pallidoluysian atrophy: expansion of an unstable CAG trinucleotide on chromosome 12. Nat Genet 1994, 6:14-18.
11. 11. Orr RT, Chung M-Y, Banfi S, Kwiatkowsky TJ, Servadio A, Beaudet AL et al.: Expansion of the unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993, 4:221-226.
12. 12. Trottier, Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G et al.: Polyglutamine expansion as a pathological epitope in Huntington's Disease and four dominant cerebellar ataxias. Nature 1995, 378:403-406.
13. 13. Néri C. Albanèse V, Lebre A-S, Holbert S, Saada C, Bouguelevet L, Meier-Ewart S: Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders. Hum Mol Genet 1996, 5:1001-1009.
14. 14. Lin B, Nasir J, Macdonald H, Hutchinson G, Graham RK, Rommens JM, Hayden MR: Sequence of the murine Huntington Disease gene: Evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing. Hum Mol Genet 1994, 3:85-92.
15. 15. Baxendale S, Abdulla S, Elgar G, Buck D, Berks M, Micklem G et al.: Comparative sequence analysis of the human and puffer fish Huntington's disease genes. Nat Genet 1995, 10:67-71. This paper shows that the gene which is mutated in Huntington's disease is common to all vertebrates, but that the long CAG repeat is not, suggesting that the long glutamine repeat in the human protein may serve no function.
16. 16. Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM et al.: Inactivation of the mouse Huntington's Disease gene homolog Hdh. Science 1995, 269:407-410.
17. 17. Zeilin S, Liu J-P, Chapman DL, Papaioannou VE, Efstratiadis A: Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 1995, 11:155-163.
18. 18. Sharp AH, Loev SJ, Schilling G, Li S-H, Li X-J, Bao J: Widespread expression of Huntington's Disease gene (IT5) protein product. Neuron 1995, 14:1065-1074.
19. 19. Schilling G, Sharp AH, Loev SJ, Wagster MV, Li S-H, Stine OC et al.: Expression of the Huntington's disease (IT5) protein product in HD patients. Hum Mol Genet 1995, 4:1365-1371.
20. 20. Persichetti F, Ambrose CM, Pei G, McNeil SM, Srinidhi J, Anderson MA, Jenkins B et al.: Normal and expanded Huntington's disease gene alleles produce distinguishable proteins due to translation across the CAG repeat. Mol Med 1995, 1:374-383.
21. 21. Trottier Y, Devis D, Imbert G, Saudou F, An I, Lutz Y et al.: Cellular localisation of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 1995, 10:104-110.
22. 22. Wood JD, MacMillan JC, Harper PS, Lowenstein PR, Jones AL: Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain. Hum Mol Genet 1996, 5:481-487.
23. 23. De Rooij KE, Dorman JC, Smoor MA, Den Dunnen JT, Van Ommen G-JB: Subcellular localisation of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation. Hum Mol Genet 1996, 5:1093-1099.
24. 24. Harper P: The epidemiology of Huntington's disease. In Huntington's Disease. Edited by Harper P. London: WB Saunder Company Ltd: 1991:251-280.
25. 25. Rubinsztein DC, Amos W, Goodburn S, Rajkumar RR, Old J, Bontrop R et al.: Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994, 7:525-530.
26. 26. Rubinsztein DC, Leggo J, Coetze GA, Irvine RA, Buckley M, Ferguson-Smith MA: Sequence variation and size ranges of CAG repeats in Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor. Hum Mol Genet 1995, 4:1585-1590.
27. 27. Ikeda H, Yamaguchi M, Sugar S, Aze Y, Narumiya S, Kukizuka A: Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996, 13:196-202.
28. 2B. Schmitt I, Epplen JT, Riess O: Predominant neural expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rats. Hum Mol Genet 1995, 4:1619-1624.
29. 29. Tilley WD, Marcelli M, Wilson JD, McPhaul MJ: Characterisation and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci USA 1989, 86:327-331
30. n-expanded neuronopathies. Hum Mol Genet 1995, 4:523-527.
31. 31. Banfi S, Servadio A, Chung M-Y, Kwiatkowski TJ Jr, McCall AE, Duvick LA et al.: Identification and characterisation of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994, 7:513-520.
32. 32. Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT: Evidence for a mechanism predisposing to intergenerational CAG instability in spinocerebellar ataxia type 1. Nat Genet 1993, 5:254-258.
33. 33. Servadio A, Koshy B, Armstrong D, Antalfi B, Orr HT, Zoghbi HY: Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 1995, 10:94-98.
34. 34. Burright EN, Clark BR, Servadio A, Matilla T, Fedderson RM, Yunis WS: SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat Cell 1995, 82:937-948. [Quoting unpublished data from S Banfi and HY Zoghbi.]
35. 35. Rubinsztein DC, Leggo J, Coles R, Almquist E, Biancalana V, Cassiman J-J: Phenotypic characterisation of individuals with 30-40 CAG repeats in the Huntington's disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996, 59:16-22.
36. 36. Streisinger S, Owen J: Mechanism of spontaneous and induced mutation in bacteriophage T4. Genetics 1985, 109:633-659.
37. 37. Farabough PJ, Miller JH: Genetic studies of the lac repressor VIII. On the molecular nature of spontaneous hotspots in the lacl gene of Escherichia coli. J Mol Biol 1978, 126:847-863.
38. 38. Kang S, Ohshimak, Shimuzu M, Amirhaeri A, Wells RD: Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J Biol Chem 1995, 270:27014-27021.
39. 39. Gacy AM, Goellner J, Jurani N, Macura S, McMurray CT: Trinucleotide repeats that expand in human disease from hairpin structures in vitro. Cell 1995, 81:533-540.
40. 40. Mitas M, Yu A, Dill J, Kamp TJ, Chambers EJ, Haworth IS: Hairpin properties of single-stranded DNA containing a GC-rich repeat. Nucleic Acids Res 1995, 23:1050-1059.
41. 41. Zhu I, Chou S-H, Xu J, Reid BR: Structure of single cytidine loop formed by the DNA triplet GCA. Nat Struct Biol 1995, 2:1012-1017.
42. 42. Onoderal O, Roses AD, Tsuji S, Vance JM, Strittmater WJ, Burke JR: Toxicity of expanded polyglutamine domain proteins in Escherichia coli. FEBS Lett 1996, in press.
43. 43. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C et al.: Exon 1 of the Huntington's disease gene containing a highly expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996, in press.
44. 44. Li X-J, Li S-H, Sharp AH, Nuciforn FC Jr, Schilling G, Lanahan A: A Huntington-associated protein enriched in brain with implications for pathology. Nature 1995, 378:398-402.
45. 45. Burke JR, Enghild JJ, Martin ME, Jou Y-S, Myers RM, Roses AD et al.: Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 1996, 2:347-350.
46. 46. Koshi B, Matilla T, Burright EN, Merry DE, Fishbeck KH, Orr HT, Zoghbi HY: Spinocerebellar alaxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet 1996, 5:1311-1318.
47. 47. Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK: Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 1996, 13:442-449.
48. 48. Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC et al.: Huntingtin is ubiquinated and interacts with a specific ubiquity conjugating enzyme. J Biol Chem 1996, in press.
49. 49 Nasir J, Goldberg YP, Haydon MR: Huntington disease: new insights into the relationship between CAG expansion and disease. Hum Mol Genet 1996, 5:1431-1435.
50. 50. Bao J, Sharp AH, Wagster MV, Becker M, Schilling G et al.: Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin. Proc Natl Acad Sci USA 1996, 93:5037-5042.
51. 51. Gerber HP, Seipel K, Giorgiev O, Hofferer M, Hug M, Rusconi S: Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 1994, 263:808-811.
52. 52. Karlin S, Bueger G: Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development Proc Natl Acad Sci USA 1996, 93:1560-1565.
53. 53. Perutz MF, Staden R, Moens L, De Baere I: Polar zippers. Curr Biol 1993, 3:249-253.
54. 54. Perutz MF, Johnston T, Suzuki M, Finch JT: Glutamine repeats as polar zippers: their possible role in neurodegenerative diseases. Proc Natl Acad Sci USA 1994, 91:5355-5358.
55. 55. Stott K, Blackburn JM, Butler PJG, Perutz MF: Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc Natl Acad Sci USA 1995, 92:6509-6513.
56. 56. Bennett MJ, Schlunegger MP, Eisenberg D: 3D domain swapping: a mechanism for oligomer assembly. Protein Sci 1995, 4:2455-2468.
57. 57. Carrell RW, Stein PE: The biostructural pathology of the serpins: critical function of sheet opening mechanism. Biol Chem Hoppe Seyler 1996, 377:1-17.
58. 58. Trottier Y, Lutz Y, Stevanin G, Imbert G, Derys D, Cancel G: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995, 378:403-406. This paper reports the discovery of a monoclonal antibody which recognises specifically expanded glutamine repeats, suggesting that expansion causes a change of structure.
59. 59. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK: Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993, 362:553-557.
60. 60. Holliday R: A mechanism of gene conversion in fungi. Genet Res 1964, 5:282.
61. 61. Potter H, Dressler D. Cold Spring Harbor Symp Quant Biol 1979, 43:973.
62. 62. Stryer L: Biochemistry, edn 4. New York: WH Freeman & Co:820.