Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease

Stem Cells and Development

Volumn 22, Issue 8, 2013, Pages 1198-1205

  Putkhao, Kittiphong ^a,b   Kocerha, Jannet ^a,c   Cho, In Ki ^a,c   Yang, Jinjing ^a,c   Parnpai, Rangsun ^b   Chan, Anthony W S ^a,c  

^a EMORY UNIVERSITY   (United States)

^b SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; HUNTINGTIN; POLYGLUTAMINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CAG REPEAT; CELL NUCLEUS INCLUSION BODY; CONTROLLED STUDY; EMBRYONIC STEM CELL; FEMALE; GAMETE; GERM LINE; HUNTINGTON CHOREA; MALE; MOSAICISM; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; TRANSGENE;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; BASE SEQUENCE; CELLS, CULTURED; DISEASE MODELS, ANIMAL; EMBRYO, MAMMALIAN; EMBRYONIC STEM CELLS; FEMALE; GERM CELLS; GREEN FLUORESCENT PROTEINS; HUMANS; HUNTINGTON DISEASE; IMMUNOHISTOCHEMISTRY; MACACA MULATTA; MALE; MICE; MICE, SCID; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEPTIDES; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRINUCLEOTIDE REPEAT EXPANSION;

ANIMALIA; PRIMATES;

EID: 84876131051     PISSN: 15473287     EISSN: 15578534     Source Type: Journal    
DOI: 10.1089/scd.2012.0469     Document Type: Article

References (38)

1. Yang SH, PH Cheng, H Banta, K Piotrowska-Nitsche, JJ Yang, EC Cheng, B Snyder, K Larkin, J Liu, et al. (2008). Towards a transgenic model of Huntington's disease in a non-human primate. Nature 453:921-924.
2. Telenius H, B Kremer, YP Goldberg, J Theilmann, SE Andrew, J Zeisler, S Adam, C Greenberg, EJ Ives, LA Clarke and MR Hayden. (1994). Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 6:409-414.
3. Telenius H, HP Kremer, J Theilmann, SE Andrew, E Almqvist, M Anvret, C Greenberg, J Greenberg, G Lucotte, et al. (1993). Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 2:1535-1540.
4. Nicolas G, D Devys, A Goldenberg, D Maltete, C Herve, D Hannequin and L Guyant-Marechal. (2011). Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. Am J Med Genet 155A:815-818.
5. Ribai P, K Nguyen, V Hahn-Barma, I Gourfinkel-An, M Vidailhet, A Legout, C Dode, A Brice and A Durr. (2007). Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol 64: 813-819.
6. Langbehn DR, MR Hayden and JS Paulsen. (2010). CAGrepeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches Am J Med Genet B Neuropsychiatr Genet 153B:397-408.
7. Lee JM, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, P Morrison, M Nance, et al. (2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 78:690-695.
8. RI Scahill, NZ Hobbs, MJ Say, N Bechtel, Henley SM, H Hyare, DR Langbehn, R Jones, BR Leavitt, et al. (2011). Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy. Hum Brain Mapp. [Epub ahead of print]; DOI 10.1002/hbm.21449.
9. SJ Tabrizi, R Reilmann, RA Roos, A Durr, B Leavitt, G Owen, R Jones, H Johnson, D Craufurd, et al. (2012). Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: Analysis of 24 month observational data. Lancet Neurol 11:42-53.
10. RG Snell, JC MacMillan, JP Cheadle, I Fenton, LP Lazarou, P Davies, ME MacDonald, JF Gusella, PS Harper and DJ Shaw (1993). Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4:393-397.
11. Geevasinga N, FH Richards, KJ Jones and MM Ryan. (2006). Juvenile Huntington disease. J Paediatr Child Health 42: 552-554.
12. Andrew SE, YP Goldberg, B Kremer, H Telenius, J Theilmann, S Adam, E Starr, F Squitieri, B Lin, et al. (1993). The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4: 398-403.
13. HD iPSC Consortium. (2012). Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeatexpansion-associated phenotypes. Cell Stem Cell 11:264-278.
14. An MC, N Zhang, G Scott, D Montoro, T Wittkop, S Mooney, S Melov and LM Ellerby. (2012). Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells. Cell Stem Cell 11:253-263.
15. Dimos JT, KT Rodolfa, KK Niakan, LM Weisenthal, H Mitsumoto, W Chung, GF Croft, G Saphier, R Leibel, et al. (2008). Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321:1218-1221.
16. Ma L, B Hu, Y Liu, SC Vermilyea, H Liu, L Gao, Y Sun, X Zhang, SC Zhang. (2012). Human embryonic stem cellderived GABA neurons correct locomotion deficits in quinolinic acid-lesioned mice. Cell Stem Cell 10:455-464.
17. Park IH, N Arora, H Huo, N Maherali, T Ahfeldt, A Shimamura, MW Lensch, C Cowan, K Hochedlinger and GQ Daley. (2008). Disease-specific induced pluripotent stem cells. Cell 134:877-886.
18. Perrier A and M Peschanski. (2012). How can human pluripotent stem cells help decipher and cure Huntington's disease? Cell Stem Cell 11:153-161.
19. Carter RL and AW Chan. (2012). Pluripotent stem cells models for Huntington's disease: Prospects and challenges. J Genet Genomics 39:253-259.
20. Chan AWS. (2004). Transgenic nonhuman primates of neurodegenerative diseases. Reprod Biol Endocrinol 2:39.
21. Yang SH and AW Chan. (2011). Transgenic animal models of Huntington's disease. Curr Top Behav Neurosci 7:61-85.
22. Chan AW, KY Chong, C Martinovich, C Simerly and G Schatten. (2001). Transgenic monkeys produced by retroviral gene transfer into mature oocytes. Science 291:309-312.
23. Chan AWS, KY Chong and G Schatten. (2002). Production of transgenic primates. In: Transgenic Animal Technology. Pinkert CA, ed. Academic Press, San Diego, pp. 359-394.
24. Chan AW, PH Cheng, A Neumann and JJ Yang. (2010). Reprogramming Huntington monkey skin cells into pluripotent stem cell. Cell Reprogram 12:509-517.
25. Laowtammathron C, EC Cheng, PH Cheng, BR Snyder, SH Yang, Z Johnson, C Lorthongpanich, HC Kuo, R Parnpai and AW Chan. (2010). Monkey hybrid stem cells develop cellular features of Huntington's disease. BMC Cell Biol 11:12.
26. Bates GP, L Mangiarini and SW Davies. (1998). Transgenic mice in the study of polyglutamine repeat expansion diseases. Brain Pathol 8:699-714.
27. Schilling G, MW Becher, AH Sharp, HA Jinnah, K Duan, JA Kotzuk, HH Slunt, T Ratovitski, JK Cooper, et al. (1999). Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum Mol Genet 8:397-407.
28. Sasaki E, H Suemizu, A Shimada, K Hanazawa, R Oiwa, M Kamioka, I Tomioka, Y Sotomaru, R Hirakawa, et al. (2009). Generation of transgenic non-human primates with germline transmission. Nature 459:523-527.
29. Courtine G, MB Bunge, JW Fawcett, RG Grossman, JH Kaas, R Lemon, I Maier, J Martin, RJ Nudo, et al. (2007). Can experiments in nonhuman primates expedite the translation of treatments for spinal cord injury in humans? Nat Med 13:561-566.
30. Rice J. (2012). Animal models: Not close enough. Nature 484:S9- S9.
31. Tabrizi SJ, RI Scahill, A Durr, RA Roos, BR Leavitt, R Jones, GB Landwehrmeyer, NC Fox, H Johnson, et al. (2011). Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: The 12-month longitudinal analysis. Lancet Neurol 10:31-42.
32. Bachevalier J, CJ Machado and A Kazama. (2011). Behavioral outcomes of late-onset or early-onset orbital frontal cortex (areas 11/13) lesions in rhesus monkeys. Ann N Y Acad Sci 1239:71-86.
33. Bachevalier J, L Malkova and M Mishkin. (2001). Effects of selective neonatal temporal lobe lesions on socioemotional behavior in infant rhesus monkeys (Macaca mulatta). Behav Neurosci 115:545-559.
34. Ewing-Cobbs L, MR Prasad, P Swank, L Kramer, D Mendez, A Treble, C Payne and J Bachevalier. (2012). Social communication in young children with traumatic brain injury: Relations with corpus callosum morphometry. Int J Dev Neurosci 30:247-254.
35. Yang SH, PH Cheng, RT Sullivan, JW Thomas and AW Chan. (2008). Lentiviral integration preferences in transgenic mice. Genesis 46:711-718.
36. Chung MY, LP Ranum, LA Duvick, A Servadio, HY Zoghbi and HT Orr. (1993). Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258.
37. Orr HT, MY Chung, S Banfi, TJ Kwiatkowski, Jr., A Servadio, AL Beaudet, AE McCall, LA Duvick, LP Ranum and HY Zoghbi. (1993). Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226.
38. Takano H, O Onodera, H Takahashi, S Igarashi, M Yamada, M Oyake, T Ikeuchi, R Koide, H Tanaka, K Iwabuchi and S Tsuji. (1996). Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58:1212-1222.