A series of N-terminal epitope tagged Hdh knock-in alleles expressing normal and mutant huntingtin: Their application to understanding the effect of increasing the length of normal huntingtins polyglutamine stretch on CAG140 mouse model pathogenesis

Molecular Brain

Volumn 5, Issue 1, 2012, Pages

  Zheng, Shuqiu ^a   Ghitani, Nima ^a,b   Blackburn, Jessica S ^a,c   Liu, Jeh Ping ^a   Zeitlin, Scott O ^a  

^a UNIVERSITY OF VIRGINIA   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Epitope tag; Huntingtin; Huntingtons disease; Knock in; Polyglutamine; Proline rich region; Sequestration

Indexed keywords

EPITOPE; HEMAGGLUTININ; HUNTINGTIN; LIPOFUSCIN; POLYGLUTAMINE;

ALLELE; AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; GLIOSIS; HUNTINGTON CHOREA; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; IN VIVO STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BRAIN; CHI-SQUARE DISTRIBUTION; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; EPITOPES; EXONS; FEMALE; GLIOSIS; HEMIZYGOTE; HETEROZYGOTE; HUMANS; HUNTINGTON DISEASE; LIPOFUSCIN; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEPTIDES; PROTEIN BINDING; TRINUCLEOTIDE REPEAT EXPANSION;

MUS;

EID: 84864943033     PISSN: None     EISSN: 17566606     Source Type: Journal    
DOI: 10.1186/1756-6606-5-28     Document Type: Article

References (54)

1. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Huntingtos Disease Collaborative Research Group, Cell 1993 72 971 983 10.1016/0092-8674(93)90585-E 8458085 (Pubitemid 23110238)
2. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Zuccato C, Valenza M, Cattaneo E, Physiol Rev 2010 90 905 981 10.1152/physrev.00041.2009 20664076
3. Huntington disease. Vonsattel JP, DiFiglia M, J Neuropathol Exp Neurol 1998 57 369 384 10.1097/00005072-199805000-00001 9596408 (Pubitemid 28237321)
4. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP, Cell 1997 90 537 548 10.1016/S0092-8674(00)80513-9 9267033 (Pubitemid 27347243)
5. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N, Science 1997 277 1990 1993 10.1126/science.277.5334. 1990 9302293 (Pubitemid 27449140)
6. Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. Gutekunst CA, Li SH, Yi H, Mulroy JS, Kuemmerle S, Jones R, Rye D, Ferrante RJ, Hersch SM, Li XJ, J Neurosci 1999 19 2522 2534 10087066 (Pubitemid 29162401)
7. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Saudou F, Finkbeiner S, Devys D, Greenberg ME, Cell 1998 95 55 66 10.1016/S0092-8674(00)81782-1 9778247 (Pubitemid 28458024)
8. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S, Nature 2004 431 805 810 10.1038/nature02998 15483602 (Pubitemid 39434070)
9. Quantitative relationships between huntingtin levels, polyglutamine length, inclusion body formation, and neuronal death provide novel insight into huntington's disease molecular pathogenesis. Miller J, Arrasate M, Shaby BA, Mitra S, Masliah E, Finkbeiner S, J Neurosci 2010 30 10541 10550 10.1523/JNEUROSCI.0146-10.2010 20685997
10. Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Slow EJ, Graham RK, Osmand AP, Devon RS, Lu G, Deng Y, Pearson J, Vaid K, Bissada N, Wetzel R, Leavitt BR, Hayden MR, Proc Natl Acad Sci U S A 2005 102 11402 11407 10.1073/pnas.0503634102 16076956 (Pubitemid 41153832)
11. CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse. Dragatsis I, Goldowitz D, Del Mar N, Deng YP, Meade CA, Liu L, Sun Z, Dietrich P, Yue J, Reiner A, Neurobiol Dis 2009 33 315 330 10.1016/j.nbd.2008.10.009 19027857
12. Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis. Chai Y, Shao J, Miller VM, Williams A, Paulson HL, Proc Natl Acad Sci U S A 2002 99 9310 9315 10.1073/pnas.152101299 12084819 (Pubitemid 34764610)
13. Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF, Somat Cell Mol Genet 1998 24 217 233 10410676 (Pubitemid 29316230)
14. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCutcheon K, Singaraja R, Kazemi-Esfarjani P, Devon R, Kim SU, Bredesen DE, Tufaro F, Hayden MR, Nat Genet 1998 18 150 154 10.1038/ng0298-150 9462744 (Pubitemid 28082462)
15. Evidence for a recruitment and sequestration mechanism in Huntington's disease. Preisinger E, Jordan BM, Kazantsev A, Housman D, Philos Trans R Soc Lond B Biol Sci 1999 354 1029 1034 10.1098/rstb.1999.0455 10434302 (Pubitemid 29477964)
16. Normal-repeat-length polyglutamine peptides accelerate aggregation nucleation and cytotoxicity of expanded polyglutamine proteins. Slepko N, Bhattacharyya AM, Jackson GR, Steffan JS, Marsh JL, Thompson LM, Wetzel R, Proc Natl Acad Sci U S A 2006 103 14367 14372 10.1073/pnas.0602348103 16980414 (Pubitemid 44484756)
17. Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Dragatsis I, Levine MS, Zeitlin S, Nat Genet 2000 26 300 306 10.1038/81593 11062468
18. Wild-type huntingtin protects from apoptosis upstream of caspase-3 [In Process Citation]. Rigamonti D, Bauer JH, De-Fraja C, Conti L, Sipione S, Sciorati C, Clementi E, Hackam A, Hayden MR, Li Y, Cooper JK, Ross CA, Govoni S, Vincenz C, Cattaneo E, J Neurosci 2000 20 3705 3713 10804212 (Pubitemid 30266233)
19. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Gauthier LR, Charrin BC, Borrell-Pages M, Dompierre JP, Rangone H, Cordelieres FP, De Mey J, MacDonald ME, Lessmann V, Humbert S, Saudou F, Cell 2004 118 127 138 10.1016/j.cell.2004. 06.018 15242649 (Pubitemid 38902819)
20. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Gunawardena S, Her LS, Brusch RG, Laymon RA, Niesman IR, Gordesky-Gold B, Sintasath L, Bonini NM, Goldstein LS, Neuron 2003 40 25 40 10.1016/S0896-6273(03)00594-4 14527431 (Pubitemid 37222462)
21. Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis. Godin JD, Colombo K, Molina-Calavita M, Keryer G, Zala D, Charrin BC, Dietrich P, Volvert ML, Guillemot F, Dragatsis I, Bellaiche Y, Saudou F, Nguyen L, Humbert S, Neuron 2010 67 392 406 10.1016/j.neuron.2010.06.027 20696378
22. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. Keryer G, Pineda JR, Liot G, Kim J, Dietrich P, Benstaali C, Smith K, Cordelieres FP, Spassky N, Ferrante RJ, Dragatsis I, Saudou F, J Clin Invest 2011 121 4372 4382 10.1172/JCI57552 21985783
23. Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Leavitt BR, Guttman JA, Hodgson JG, Kimel GH, Singaraja R, Vogl AW, Hayden MR, Am J Hum Genet 2001 68 313 324 10.1086/318207 11133364 (Pubitemid 32147802)
24. Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease. Van Raamsdonk JM, Pearson J, Murphy Z, Hayden MR, Leavitt BR, BMC Neurosci 2006 7 80 10.1186/1471-2202-7-80 17147801 (Pubitemid 46178874)
25. Huntingtin gene evolution in Chordata and its peculiar features in the ascidian Ciona genus. Gissi C, Pesole G, Cattaneo E, Tartari M, BMC Genomics 2006 7 288 10.1186/1471-2164-7-288 17092333 (Pubitemid 44774165)
26. Flanking polyproline sequences inhibit beta-sheet structure in polyglutamine segments by inducing PPII-like helix structure. Darnell G, Orgel JP, Pahl R, Meredith SC, J Mol Biol 2007 374 688 704 10.1016/j.jmb.2007.09.023 17945257 (Pubitemid 350027728)
27. Critical role of the proline-rich region in Huntingtin for aggregation and cytotoxicity in yeast. Dehay B, Bertolotti A, J Biol Chem 2006 281 35608 35615 10.1074/jbc.M605558200 16973603 (Pubitemid 46041291)
28. Abnormal proteins can form aggresome in yeast: aggresome-targeting signals and components of the machinery. Wang Y, Meriin AB, Zaarur N, Romanova NV, Chernoff YO, Costello CE, Sherman MY, FASEB J 2009 23 451 463 18854435
29. Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction. Qin ZH, Wang Y, Sapp E, Cuiffo B, Wanker E, Hayden MR, Kegel KB, Aronin N, DiFiglia M, J Neurosci 2004 24 269 281 10.1523/JNEUROSCI.1409-03.2004 14715959 (Pubitemid 38181691)
30. The composition of the polyglutamine-containing proteins influences their co-aggregation properties. Bak D, Milewski M, Cell Biol Int 2010 34 933 942 10.1042/CBI20090474 20515443
31. A network of protein interactions determines polyglutamine toxicity. Duennwald ML, Jagadish S, Giorgini F, Muchowski PJ, Lindquist S, Proc Natl Acad Sci U S A 2006 103 11051 11056 10.1073/pnas.0604548103 16832049 (Pubitemid 44148416)
32. Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. Menalled LB, Sison JD, Dragatsis I, Zeitlin S, Chesselet MF, J Comp Neurol 2003 465 11 26 10.1002/cne.10776 12926013 (Pubitemid 37075677)
33. Native mutant huntingtin in human brain: evidence for prevalence of full-length monomer. Sapp E, Valencia A, Li X, Aronin N, Kegel KB, Vonsattel JP, Young AB, Wexler N, DiFiglia M, J Biol Chem 2012 287 13487 13499 10.1074/jbc.M111.286609 22375012
34. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, Bates GP, Davies SW, Lehrach H, Wanker EE, Cell 1997 90 549 558 10.1016/S0092-8674(00)80514-0 9267034 (Pubitemid 27347244)
35. Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease. Wang CE, Tydlacka S, Orr AL, Yang SH, Graham RK, Hayden MR, Li S, Chan AW, Li XJ, Hum Mol Genet 2008 17 2738 2751 10.1093/hmg/ddn175 18558632
36. Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtin. Tanaka Y, Igarashi S, Nakamura M, Gafni J, Torcassi C, Schilling G, Crippen D, Wood JD, Sawa A, Jenkins NA, Copeland NG, Borchelt DR, Ross CA, Ellerby LM, Neurobiol Dis 2006 21 381 391 10.1016/j.nbd.2005.07.014 16150600 (Pubitemid 43099861)
37. Modulation of mutant huntingtin N-terminal cleavage and its effect on aggregation and cell death. Juenemann K, Weisse C, Reichmann D, Kaether C, Calkhoven CF, Schilling G, Neurotox Res 2011 20 120 133 10.1007/s12640-010-9227- 6 21116768
38. Formic acid dissolves aggregates of an N-terminal huntingtin fragment containing an expanded polyglutamine tract: applying to quantification of protein components of the aggregates. Hazeki N, Tukamoto T, Goto J, Kanazawa I, Biochem Biophys Res Commun 2000 277 386 393 10.1006/bbrc.2000.3682 11032734
39. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Lunkes A, Lindenberg KS, Ben-Haiem L, Weber C, Devys D, Landwehrmeyer GB, Mandel JL, Trottier Y, Mol Cell 2002 10 259 269 10.1016/S1097-2765(02)00602-0 12191472 (Pubitemid 35007341)
40. Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease. Landles C, Sathasivam K, Weiss A, Woodman B, Moffitt H, Finkbeiner S, Sun B, Gafni J, Ellerby LM, Trottier Y, Richards WG, Osmand A, Paganetti P, Bates GP, J Biol Chem 2010 285 8808 8823 10.1074/jbc.M109.075028 20086007
41. Imaging polyglutamine deposits in brain tissue. Osmand AP, Berthelier V, Wetzel R, Methods Enzymol 2006 412 106 122 17046655 (Pubitemid 44548577)
42. Recent advances in understanding the pathogenesis of Huntington's disease. Reddy PH, Williams M, Tagle DA, Trends Neurosci 1999 22 248 255 10.1016/S0166-2236(99)01415-0 10354600 (Pubitemid 29259990)
43. Studies on brain biopsies of patients with Huntington's chorea. Tellez-Nagel I, Johnson AB, Terry RD, J Neuropathol Exp Neurol 1974 33 308 332 10.1097/00005072-197404000-00008 4150800
44. Extensive early motor and non-motor behavioral deficits are followed by striatal neuronal loss in knock-in Huntington's disease mice. Hickey MA, Kosmalska A, Enayati J, Cohen R, Zeitlin S, Levine MS, Chesselet MF, Neuroscience 2008 157 280 295 10.1016/j.neuroscience.2008.08.041 18805465
45. From neuronal inclusions to neurodegeneration: neuropathological investigation of a transgenic mouse model of Huntington's disease. Davies SW, Turmaine M, Cozens BA, Raza AS, Mahal A, Mangiarini L, Bates GP, Philos Trans R Soc Lond B Biol Sci 1999 354 981 989 10.1098/rstb.1999.0449 10434296
46. Deletion of the huntingtin polyglutamine stretch enhances neuronal autophagy and longevity in mice. Zheng S, Clabough EB, Sarkar S, Futter M, Rubinsztein DC, Zeitlin SO, PLoS Genet 2010 6 1000838 10.1371/journal.pgen. 1000838 20140187
47. Lipofuscin and aging: a matter of toxic waste. Gray DA, Woulfe J, Sci Aging Knowledge Environ 2005 2005 e1 10.1126/sageke.2005.5.re1 15689603
48. Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein. Li W, Serpell LC, Carter WJ, Rubinsztein DC, Huntington JA, J Biol Chem 2006 281 15916 15922 10.1074/jbc.M511007200 16595690 (Pubitemid 43848484)
49. Huntingtin facilitates polycomb repressive complex 2. Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, Macdonald ME, Hum Mol Genet 2010 19 573 583 10.1093/hmg/ddp524 19933700
50. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH, Am J Med Genet A 2003 119 279 282 (Pubitemid 37063854)
51. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Aziz NA, Jurgens CK, Landwehrmeyer GB, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA, Neurology 2009 73 1280 1285 10.1212/WNL.0b013e3181bd1121 19776381
52. The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease. Klempir J, Zidovska J, Stochl J, Ing VK, Uhrova T, Roth J, Mov Disord 2011 26 125 129 10.1002/mds.23436 21322024
53. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, et al. Neurology 2012 78 690 695 10.1212/WNL.0b013e318249f683 22323755
54. Flanking sequences profoundly alter polyglutamine toxicity in yeast. Duennwald ML, Jagadish S, Muchowski PJ, Lindquist S, Proc Natl Acad Sci U S A 2006 103 11045 11050 10.1073/pnas.0604547103 16832050 (Pubitemid 44148415)