Polyglutamine neurodegeneration: Expanded glutamines enhance native functions

Current Opinion in Genetics and Development

Volumn 22, Issue 3, 2012, Pages 251-255

  Orr, Harry T ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANDROGEN RECEPTOR; ATAXIN 1; CYTOSINE; GLUTAMINE; GUANINE; HUNTINGTIN; POLYGLUTAMINE; RNA BINDING PROTEIN;

ATXN1 GENE; CAG REPEAT; DEGENERATIVE DISEASE; DISEASE SEVERITY; GAIN OF FUNCTION MUTATION; HTT GENE; HUMAN; HUNTINGTON CHOREA; KENNEDY DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; REVIEW; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ANIMALS; AUTOANTIGENS; CELL CYCLE PROTEINS; CELL NUCLEUS; CILIA; GLUTAMINE; HUMANS; HUNTINGTON DISEASE; NERVE TISSUE PROTEINS; PEPTIDES; PHOSPHORYLATION; RECEPTORS, ANDROGEN; SPINOCEREBELLAR ATAXIAS; STRUCTURE-ACTIVITY RELATIONSHIP; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84862501578     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2012.01.001     Document Type: Review

References (35)

1. La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
2. Orr H.T., Zoghbi H.Y. Trinucleotide repeat disorders. Annu Rev Neurosci 2007, 30:575-621.
3. Gatxhel J.R., Zoghbi H.Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005, 6:743-755.
4. Kennedy W.R., Alter M., Sung J.H. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968, 18:671-680.
5. Schmidt B.J., Greenber C.R., Allingham-Hawkins D.J., Spriggs E.L. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 2002, 59:770-772.
6. Katsuno M., Adachi H., Kume A., Li M., Nakagomi Y., Niwa H., Sang C., Kobasyashi Y., Doyu M., Sobue G. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 2002, 35:843-854.
7. Takeyama K., Ito S., Yamamoto A., Tanimoto H., Furutani T., Kanuka H., Miura M., Tabata T., Kato S. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002, 35:855-864.
8. Nedelsky N.B., Pennuto M., Smith R.B., Palazzolo I., Moore J., Nie Z., Neale G., Taylor J.P. Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 2010, 67:936-952.
9. Orr H.T., Chung M.Y., Banfi S., Kwiatkowski T.J., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993, 4:221-226.
10. Chen Y.W., Allen M.D., Veprintsev D.B., Lowe J., Bycroft M. The structure of the AXH domain of spinocerebellar ataxin-1. J Biol Chem 2004, 279:3758-3765.
11. Klement I.A., Skinner P.J., Kaytor M.D., Yi H., Hersch S.M., Clark H.B., Zoghbi H.Y., Orr H.T. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998, 95:41-53.
12. Chen H.K., Fernandez-Funez P., Acevedo S.F., Lam Y.C., Kaytor M.D., Fernandez M.H., Aitken A., Skoulakis E.M., Orr H.T., Botas J., Zoghbi H.Y. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell 2003, 113:457-468.
13. de Chiara C., Menon R.P., Strom M., Gibson T.J., Pastore A. Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors. PLoS ONE 2009, 4:e8372.
14. Lim J., Crespo-Barreto J., Jafar-Nejad P., Bowman A.B., Richman R., Hill D.E., Orr H.T., Zoghbi H.Y. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature 2008, 452:713-719.
15. Lam Y.C., Bowman A.B., Jafar-Nejad P., Lim J., Richman R., Fryer J.D., Hyun E., Duvick L.A., Orr H.T., Botas J., Zoghbi H.Y. Mutant ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell 2006, 127:1335-1347.
16. Fryer J.D., Yu P., Kang H., Mandel-Brehm C., Carter A., Crespo-Barreto J., Gao Y., Flora A., Shaw C., Orr H., Zoghbi H.Y. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science 2011, 334:690-693.
17. Emamian E.S., Kaytor M.D., Duvick L.A., Zu T., Tousey S.K., Zoghbi H.Y., Clark H.B., Orr H.T. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron 2003, 38:375-387.
18. Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R., Beausoleil S.A., Villén J., Haas W., Sowa M.E., Gygi S.P. A tissue-specific atlas of mouse protein phosphorylation and expression. Cell 2010, 143:1174-1189.
19. Lai S., O'Callaghan B., Zoghbi H.Y., Orr H.T. 14-3-3 binding to ataxin-1(ATXN1) regulates its dephosphorylation at S776 and transport to the nucleus. J Biol Chem 2011, 286:34606-34616.
20. Duvick L., Barnes J., Ebner B., Agrawal S., Andresen M., Lim J., Giesler G.J., Zoghbi H.Y., Orr H.T. SCA1-like disease in mice expressing wild type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron 2010, 67:929-935.
21. Jafar-Nejad P., Ward C.S., Richman R., Orr H.T., Zoghbi H.Y. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3{epsilon} haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci USA 2011, 108:2142-2147.
22. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983. HD Collaborative Research Group.
23. Zuccato C., Valenza M., Cattaneo E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol Rev 2010, 9:905-981.
24. Harjes P., Wanker E.E. The hunt for huntingtin function: interaction partners tell many different stories. Trends Biochem Sci 2003, 28:425-433.
25. Li X.-J., Li S.-H., Sharp A.H., Nucifora F.C., Schilling G., Lanahan A., Worley P., Snyder S.H., Ross C.A. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995, 378:398-402.
26. Engelender S., Sharp A.H., Colomer V., Tokito M.K., Lanahan A., Worley P., Holzbaur E.L.F., Ross C.A. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. Hum Mol Genet 1997, 6:2205-2212.
27. Keryer G., Pineda J.R., Liot G., Kim J., Dietrich P., Benstaali C., Smith K., Cordelières F.P., Spassky N., Ferrante R.J., et al. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest 2011, 121:4372-4382.
28. Ibanez-Tallion I., Gorokhova S., Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet 2002, 11:715-721.
29. Millen K.J., Gleeson J.G. Cerebellar development and disease. Curr Opin Neurobiol 2008, 18:12-19.
30. Nopoulos P.C., Aylward E.C., Ross C.A., Mills J.A., Langbehn D.R., Johnson H.J., Magnotta V.A., Pierson R.K., Beglinger L.J., Nance M.A., et al. Smaller intracranial volume in prodromal Huntington disease: evidence for abnormal neurodevelopment. Brain 2011, 134:137-142.
31. Serra H.G., Duvick L., Zu T., Carlson K., Stevens S., Jorgensen N., Lysholm A., Burright E., Zoghbi H.Y., Clark H.B., et al. RORa-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell 2006, 127:697-708.
32. Rovelet-Lecrux A., Hannequin D., Raux G., Le Meur N., Laquerriere A., Vital A., Dumanchin C., Feuillette S., Brice A., Vercelletto M., et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006, 38:24-26.
33. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., et al. Alpha-synuclein locus triplication causes Parkinson's disease. Science 2003, 302:841.
34. Kratter I.H., Finkbeiner S. PolyQ diseases; too many Qs, too much function. Neuron 2010, 67:897-899.
35. Kim M.W., Chelliah Y., Kim S.W., Otwinowski Z., Bezprozvanny I. Secondary structure of Huntingtin amino-terminal region. Structure 2009, 17:1205-1212.