287
Views
5
CrossRef citations to date
0
Altmetric
Research Articles

A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis

, , , , , & show all
Pages 588-600 | Received 07 Mar 2014, Accepted 03 Jun 2014, Published online: 10 Jul 2014

References

  • Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012; 124:339–52.
  • Ludolph AC, Brettschneider J, Weishaupt JH. Amyotrophic lateral sclerosis. Curr Opin Neurol. 2012;25:530–5.
  • Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008;70:144–52.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med. 1991;324:1381–4.
  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol. 2011;7:603–15.
  • Swarup V, Julien JP. ALS pathogenesis: recent insights from genetics and mouse models. Progress in Neuro- Psychopharmacology and Biological Psychiatry. 2011;35: 363–9.
  • Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9orf72. Brain. 2012;135:751–64.
  • Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science. 1993; 261:1047–51.
  • Brown RH Jr, Robberecht W. Amyotrophic lateral sclerosis: pathogenesis. Semin Neurol. 2001;21:131–9.
  • Cleveland DW, Rothstein JD. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci. 2001;2:806–19.
  • Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet. 1998;7:2045–50.
  • Camu W, Khoris J, Moulard B, Salachas F, Briolotti V, Rouleau GA, et al. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J Neurol Sci. 1999;165 (Suppl 1):S21–6.
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, et al. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging. 2013;34:357.
  • Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One. 2012;7:e35333.
  • Bruijn LI, Becher MW, Lee MK, Anderson KL, Jenkins NA, Copeland NG, et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron. 1997;18:327–38.
  • Cleveland DW. From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron. 1999; 24:515–20.
  • Gurney ME, Pu H, Chiu AY, dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human Cu/Zn superoxide dismutase mutation. Science. 1994;264:1772–5.
  • Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 1995;92: 689–93.
  • Wang J, Xu G, Slunt HH, Gonzales V, Coonfield M, Fromholt D, et al. Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA. Neurobiol Dis. 2005;20:943–52.
  • dal Canto MC, Gurney ME. Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu/Zn SOD, and in mice overexpressing wild-type human SOD: a model of familial amyotrophic lateral sclerosis (FALS). Brain Res. 1995;676:25–40.
  • dal Canto MC, Gurney ME. A low expressor line of transgenic mice carrying a mutant human Cu/Zn superoxide dismutase (SOD1) gene develops pathological changes that most closely resemble those in human amyotrophic lateral sclerosis. Acta Neuropathol (Berl). 1997;93:537–50.
  • Ozdinler PH, Benn S, Yamamoto TH, Guzel M, Brown RH Jr, Macklis JD. Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G(9)(3)A transgenic ALS mice. J Neurosci. 2011;31:4166–77.
  • Gurney ME, Cutting FB, Zhai P, Doble A, Taylor CP, Andrus PK, et al. Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol. 1996;39:147–57.
  • Heiman-Patterson TD, Sher RB, Blankenhorn EA, Alexander G, Deitch JS, Kunst CB, et al. Effect of Genetic Background on Phenotype Variability in Transgenic Mouse Models of Amyotrophic Lateral Sclerosis A window of opportunity in the search for genetic modifiers. Amyotroph Lateral Scler. 2011;12:79–86.
  • Wooley CM, Sher RB, Kale A, Frankel WN, Cox GA, Seburn KL. Gait analysis detects early changes in transgenic SOD1-G93A mice. Muscle Nerve. 2005;32:43–50.
  • Alexander GM, Erwin KL, Byers N, Deitch JS, Augelli BJ, Blankenhorn EP, et al. Effect of transgene copy number on survival in the G93A-SOD1 transgenic mouse model of ALS. Brain Res Mol Brain Res. 2004;130:7–15.
  • SAS. JMP Statistics and Graphics Guide, Version 5.1.2. Cary, North Carolina: SAS Institute, Inc.; 2004.
  • Sen S, Churchill GA. A statistical framework for quantitative trait mapping. Genetics. 2001;159:371–87.
  • Doerge RW, Churchill GA. Permutation tests for multiple loci affecting a quantitative character. Genetics. 1996;142: 285–94.
  • Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11:241–7.
  • Broman KW, Wu H, Sen S, Churchill GA. R/qtl: QTL mapping in experimental crosses. Bioinformatics. 2003; 19:889–90.
  • Heiman-Patterson TD, Deitch JS, Blankenhorn EP, Erwin KL, Perreault MJ, Alexander BK, et al. Background and gender effects on survival in the TgN(SOD1-G93A)1Gur mouse model of ALS. J Neurol Sci. 2005;236:1–7.
  • Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, et al. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet. 1999;23:141–2.
  • Blankenhorn EP, Butterfield R, Case LK, Wall EH, del Rio R, Diehl SA, et al. Genetics of experimental allergic encephalomyelitis supports the role of T helper cells in multiple sclerosis pathogenesis. Ann Neurol. 2011; 70:887–96.
  • Manly KF. A Macintosh program for storage and analysis of experimental genetic mapping data. Mammalian Genome. 1993;4:303–13.
  • Kunst CB, Messer L, Gordon J, Haines J, Patterson D. Genetic mapping of a mouse modifier gene that can prevent ALS onset. Genomics. 2000;70:181–9.
  • Cox GA, Mahaffey CL, Frankel WN. Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron. 1998;21: 1327–37.
  • de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Human Molecular Genetics. 2009;18:2115–26.
  • Le Corvoisier P, Park HY, Carlson KM, Marchuk DA, Rockman HA. Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum Mol Genet. 2003;12:3097–107.
  • Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007;6:322–8.
  • Linder CC. Genetic variables that influence phenotype. Ilar J. 2006;47:132–40.
  • Altar CA, Vawter MP, Ginsberg SD. Target identification for CNS diseases by transcriptional profiling. Neuropsychopharmacology. 2009;34:18–54.
  • Hilbush BS, Morrison JH, Young WG, Sutcliffe JG, Bloom FE. New prospects and strategies for drug target discovery in neurodegenerative disorders. NeuroRx. 2005; 2:627–37.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.