Genetic background modulates the phenotype of a mouse model of dyt1 dystonia

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Tanabe, Lauren M ^a   Martin, Caitlin ^b   Dauer, William T ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ASPARTIC ACID; HISTIDINE; TORSIN A; UNCLASSIFIED DRUG; CHAPERONE; DYT1 PROTEIN, MOUSE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSTONIA; DYT1 GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; LIFE EXPECTANCY; LIFESPAN; MALE; MODIFIER GENE; MOTOR DYSFUNCTION; MOUSE; MUTATOR GENE; NONHUMAN; PHENOTYPE; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; ANIMAL; ANIMAL BEHAVIOR; BIOLOGICAL MODEL; BODY EQUILIBRIUM; C57BL MOUSE; CROSS BREEDING; DBA MOUSE; DISEASE MODEL; GENETICS; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; TIME;

ANIMALIA; MUS;

ANIMALS; BEHAVIOR, ANIMAL; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DYSTONIA; GENOTYPE; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED DBA; MODELS, GENETIC; MOLECULAR CHAPERONES; PHENOTYPE; POSTURAL BALANCE; TIME FACTORS;

EID: 84857678883     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032245     Document Type: Article

References (31)

1. Tanabe LM, Kim CE, Alagem N, Dauer WT, (2009) Primary dystonia: molecules and mechanisms. Nat Rev Neurol 5: 598-609.
2. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, et al. (1989) Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2: 1427-1434.
3. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, et al. (1999) The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62: 377-384.
4. Eidelberg D, Moeller JR, Antonini A, Kazumata K, Nakamura T, et al. (1998) Functional brain networks in DYT1 dystonia. Ann Neurol 44: 303-312.
5. Trost M, Carbon M, Edwards C, Ma Y, Raymond D, et al. (2002) Primary dystonia: is abnormal functional brain architecture linked to genotype? Ann Neurol 52: 853-856.
6. Argyelan M, Carbon M, Niethammer M, Ulug AM, Voss HU, et al. (2009) Cerebellothalamocortical connectivity regulates penetrance in dystonia. J Neurosci 29: 9740-9747.
7. Niethammer M, Carbon M, Argyelan M, Eidelberg D, (2011) Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging. Neurobiol Dis 42: 202-209.
8. Nadeau JH, (2005) Listening to genetic background noise. N Engl J Med 352: 1598-1599.
9. Kim CE, Perez A, Perkins G, Ellisman MH, Dauer WT, (2010) A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A 107: 9861-9866.
10. Goodchild RE, Dauer WT, (2005) The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol 168: 855-862.
11. Giles LM, Li L, Chin LS, (2009) Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. J Biol Chem 284: 21765-21775.
12. Sharma N, Baxter MG, Petravicz J, Bragg DC, Schienda A, et al. (2005) Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci 25: 5351-5355.
13. Shashidharan P, Sandu D, Potla U, Armata IA, Walker RH, et al. (2005) Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet 14: 125-133.
14. Grundmann K, Reischmann B, Vanhoutte G, Hubener J, Teismann P, et al. (2007) Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis 27: 190-206.
15. Dang MT, Yokoi F, McNaught KS, Jengelley TA, Jackson T, et al. (2005) Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol 196: 452-463.
16. Goodchild RE, Kim CE, Dauer WT, (2005) Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48: 923-932.
17. Cookson MR, Clarimon J, (2005) Dystonia and the nuclear envelope. Neuron 48: 875-877.
18. Crawley JN, Belknap JK, Collins A, Crabbe JC, Frankel W, et al. (1997) Behavioral phenotypes of inbred mouse strains: implications and recommendations for molecular studies. Psychopharmacology (Berl) 132: 107-124.
19. Kearney JA, (2011) Genetic modifiers of neurological disease. Curr Opin Genet Dev 21: 349-353.
20. Shakkottai VG, do Carmo Costa M, Dell'Orco JM, Sankaranarayanan A, Wulff H, et al. (2011) Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3. J Neurosci 31: 13002-13014.
21. Beck JA, Lloyd S, Hafezparast M, Lennon-Pierce M, Eppig JT, et al. (2000) Genealogies of mouse inbred strains. Nat Genet 24: 23-25.
22. Bressman SB, (2007) Genetics of dystonia: an overview. Parkinsonism Relat Disord 13 (Suppl 3): S347-355.
23. Risch NJ, Bressman SB, Senthil G, Ozelius LJ, (2007) Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 80: 1188-1193.
24. Pisani A, Martella G, Tscherter A, Bonsi P, Sharma N, et al. (2006) Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol Dis 24: 318-325.
25. Martella G, Tassone A, Sciamanna G, Platania P, Cuomo D, et al. (2009) Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. Brain 132: 2336-2349.
26. Napolitano F, Bonito-Oliva A, Federici M, Carta M, Errico F, et al. (2010) Role of aberrant striatal dopamine D1 receptor/cAMP/protein kinase A/DARPP32 signaling in the paradoxical calming effect of amphetamine. J Neurosci 30: 11043-11056.
27. Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, et al. (2001) Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3: 133-143.
28. Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, et al. (2005) Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 57: 765-767.
29. Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, et al. (2006) Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67: 1857-1859.
30. Ulug AM, Vo A, Argyelan M, Tanabe L, Schiffer WK, et al. (2011) Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. Proc Natl Acad Sci U S A 108: 6638-6643.
31. Carbon M, Su S, Dhawan V, Raymond D, Bressman S, et al. (2004) Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology 62: 1384-1390.