A mouse model of ATRX deficiency with cognitive deficits and autistic traits

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annu Rev Genomics Hum Genet. 2014;15:269–93.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: A meta-analysis of population-based studies. Res Dev Disabil. 2011;

Bougeard C, Picarel-Blanchot F, Schmid R, Campbell R, Buitelaar J. Prevalence of Autism Spectrum Disorder and Co-morbidities in Children and Adolescents: A Systematic Literature Review. Front Psychiatry. 2021;

Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008;9:341–55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baio J, Wiggins L, Christensen D, et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 years- Autism and Developmental Disabilities Monitoring Network. MMWR Surveill Summ. 2014;67:1–23.

Article  Google Scholar 

Fitzpatrick SE, Srivorakiat L, Wink LK, Pedapati EV, Erickson CA. Aggression in autism spectrum disorder: presentation and treatment options. Neuropsychiatr Dis Treat. 2016;12:1525–38.

CAS  PubMed  PubMed Central  Google Scholar 

Kas MJ, Glennon JC, Buitelaar J, Ey E, Biemans B, Crawley J, et al. Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: current status and future perspectives. Psychopharmacol(Berl). 2014;231:1125–46. https://doi.org/10.1007/s00213-013-3268-5.

Article  CAS  Google Scholar 

Barrett RM, Malvaez M, Kramar E, Matheos DP, Arrizon A, Cabrera SM, et al. Hippocampal focal knockout of CBP affects specific histone modifications, long-term potentiation, and long-term memory. Neuropsychopharmacology. 2011;36:1545–56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feng J, Zhou Y, Campbell SL, Le T, Li E, Sweatt JD, et al. Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. Nat Neurosci. 2010;13:423–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Levenson JM, Roth TL, Lubin FD, Miller CA, Huang I-C, Desai P, et al. Evidence that DNA (cytosine-5) methyltransferase regulates synaptic plasticity in the hippocampus. J Biol Chem. 2006;281:15763–73.

Article  CAS  PubMed  Google Scholar 

Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, et al. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. Am J Hum Genet. 2016;98:149–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, et al. Mutations in the chromatin-associated protein ATRX. Hum Mutat. 2008;29:796–802.

Article  CAS  PubMed  Google Scholar 

Garrick D, Samara V, McDowell TL, Smith AJH, Dobbie L, Higgs DR, et al. A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain. Gene. 2004;326:23–34.

Article  CAS  PubMed  Google Scholar 

Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 1995;80:837–45.

Article  CAS  PubMed  Google Scholar 

Gibbons RJ, Higgs DR. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet. 2000;97:204–12.

Article  CAS  PubMed  Google Scholar 

Grozeva D, Carss K, Spasic-Boskovic O, Tejada M-I, Gecz J, Shaw M, et al. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat. 2015;36:1197–204.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, et al. Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:830–5.

Article  PubMed  PubMed Central  Google Scholar 

Li J, Wang L, Guo H, Shi L, Zhang K, Tang M, et al. Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry. 2017;22:1282–90.

Article  CAS  PubMed  Google Scholar 

Bérubé NG, Smeenk CA, Picketts DJ. Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association. Hum Mol Genet. 2000;9:539–47.

Article  PubMed  Google Scholar 

Law MJ, Lower KM, Voon HPJ, Hughes JR, Garrick D, Viprakasit V, et al. ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. Cell. 2010;143:367–78.

Article  CAS  PubMed  Google Scholar 

Meyer-Nava S, Torres A, Zurita M, Valadez-Graham V. Molecular effects of dADD1 misexpression in chromatin organization and transcription. BMC Mol Cell Biol. 2020;21:17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, Hannan RD, et al. ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res. 2010;20:351–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Garrick D, Sharpe JA, Arkell R, Dobbie L, Smith AJH, Wood WG, et al. Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. PLoS Genet. 2006;2:e58.

Article  PubMed  PubMed Central  Google Scholar 

Berube NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, et al. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest. 2005;115:258–67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Seah C, Levy MA, Jiang Y, Mokhtarzada S, Higgs DR, Gibbons RJ, et al. Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53. J Neurosci. 2008;28:12570–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Watson LA, Solomon LA, Li JR, Jiang Y, Edwards M, Shin-ya K, et al. Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span. J Clin Invest. 2013;123:2049–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tamming RJ, Dumeaux V, Jiang Y, Shafiq S, Langlois L, Ellegood J, et al. Atrx Deletion in Neurons Leads to Sexually Dimorphic Dysregulation of miR-137 and Spatial Learning and Memory Deficits. Cell Rep. 2020;31:107838.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martin-Kenny N, Bérubé NG. Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice. J Neurodev Disord. 2020;12:17. https://doi.org/10.1186/s11689-020-09319-0.

Article  PubMed  PubMed Central  Google Scholar 

Goebbels S, Bormuth I, Bode U, Hermanson O, Schwab MH, Nave K-A. Genetic targeting of principal neurons in neocortex and hippocampus of NEX-Cre mice. Genesis. 2006;44:611–21.

Article  CAS  PubMed  Google Scholar 

Ross SE, Greenberg ME, Stiles CD. Basic helix-loop-helix factors in cortical development. Neuron. 2003;39:13–25.

Article  CAS  PubMed  Google Scholar 

Dieni C, Chancey J, Overstreet-Wadiche L. Dynamic functions of GABA signaling during granule cell maturation. Front Neural Circuits. 2013:113. https://doi.org/10.3389/fncir.2012.00113.

Mamiya N, Fukushima H, Suzuki A, Matsuyama Z, Homma S, Frankland PW, et al. Brain Region-Specific Gene Expression Activation Required for Reconsolidation and Extinction of Contextual Fear Memory. J Neurosci. 2009;29:402. Available from: http://www.jneurosci.org/content/29/2/402.abstract

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vorhees C, v, Williams MT. Morris water maze: procedures for assessing spatial and related forms of learning and memory. Nat Protoc. 2006;1:848–58.

Article  PubMed  PubMed Central  Google Scholar 

Can A, Dao DT, Arad M, Terrillion CE, Piantadosi SC, Gould TD. The Mouse Forced Swim Test. J Visual Experim. 2011;

Simonoff E, Pickles A, Charman T, Chandler S, Loucas T, Baird G. Psychiatric disorders in children with autism spectrum disorders: Prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry. 2008;47

Luo J, Norris RH, Gordon SL, Nithianantharajah J. Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. Prog Neuropsychopharmacol Biol Psychiatry. Elsevier Inc; 2018. p. 424–39.

Google Scholar 

Davis M. The Mammalian Startle Response. Neural Mechan Startle Behav. 1984;

Sweigert JR, St. John T, Begay KK, Davis GE, Munson J, Shankland E, et al. Characterizing olfactory function in children with autism spectrum disorder and children with sensory processing dysfunction. Brain Sci. 2020:10.

Scott JP. Agonistic behavior of mice and rats: A review. Integr Comp Biol. 1966;6

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association; 2013.

Book  Google Scholar 

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020;180

Hutsler JJ, Love T, Zhang H. Histological and Magnetic Resonance Imaging Assessment of Cortical Layering and Thickness in Autism Spectrum Disorders. Biol Psychiatry. 2007;61:449–57. Available from: https://www.sciencedirect.com/science/article/pii/S0006322306001478

Article  PubMed 

留言 (0)

沒有登入
gif