Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder

Molecular Psychiatry

Volumn 21, Issue 1, 2016, Pages 118-125

  Tilot, A K ^a,b   Bebek, G ^a,b   Niazi, F ^a   Altemus, J B ^a   Romigh, T ^a   Frazier, T W ^a,b   Eng, C ^a,b,c  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; GLUTAMATE RECEPTOR; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; SEROTONIN RECEPTOR; TRANSCRIPTION FACTOR FOXP2; TRANSCRIPTOME; PTEN PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTISM; CALCIUM SIGNALING; CELL EXPANSION; CELL MATURATION; CONTROLLED STUDY; CYTOPLASM; DENDRITIC CELL; DOWN REGULATION; GENE EXPRESSION; GENETIC SUSCEPTIBILITY; GENOTYPE; GERMLINE MUTATION; GLIA CELL; HISTOLOGY; HUMAN; IDIOPATHIC DISEASE; MALE; MOUSE; NERVOUS SYSTEM INFLAMMATION; NONHUMAN; ONTOLOGY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RNA SEQUENCE; SIGNAL TRANSDUCTION; SOCIAL BEHAVIOR; SYNAPSE; SYNAPTIC TRANSMISSION; UPREGULATION; ANIMAL; BRAIN CORTEX; COHORT ANALYSIS; DISEASE MODEL; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MUTATION; NERVE CELL; PHYSIOLOGY; SEQUENCE ANALYSIS; TRANSGENIC MOUSE;

ANIMALS; AUTISM SPECTRUM DISORDER; CEREBRAL CORTEX; COHORT STUDIES; DISEASE MODELS, ANIMAL; GENE EXPRESSION; MALE; MICE, TRANSGENIC; MUTATION; NEURONS; PTEN PHOSPHOHYDROLASE; SEQUENCE ANALYSIS, RNA; TRANSCRIPTOME;

EID: 84951908929     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2015.17     Document Type: Article

References (38)

1. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007; 12: 2-22.
2. Frazier TW, Youngstrom EA, Speer L, Embacher R, Law P, Constantino J et al. Validation of proposed DSM-5 criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 2012; 51: 28-40 e23.
3. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246-250.
4. Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 2012; 151: 1431-1442.
5. Ben-David E, Shifman S. Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism. Mol psychiatry 2013; 18: 1054-1056.
6. Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A et al. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet 2011; 20: 3366-3375.
7. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
8. Mount RH, Charman T, Hastings RP, Reilly S, Cass H. Features of autism in Rett syndrome and severe mental retardation. J Autism Dev Disord 2003; 33: 435-442.
9. Sandberg AD, Ehlers S, Hagberg B, Gillberg C. The Rett syndrome complex: communicative functions in relation to developmental level and autistic features. Autism 2000; 4: 249-267.
10. Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 2014; 10: 74-81.
11. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318-321.
12. McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res 2010; 3: 137-141.
13. Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 2011; 88: 42-56.
14. Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C. Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. Eur J Hum Genet 2011; 19: 763-768.
15. Tilot AK, Gaugler MK, Yu Q, Romigh T, Yu W, Miller RH et al. Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. Hum Mol Genet 2014; 23: 3212-3227.
16. Trapnell C, Hendrickson DG, Sauvageau M, Goff L, Rinn JL, Pachter L. Differential analysis of gene regulation at transcript resolution with RNA-seq. Nat Biotechnol 2013; 31: 46-53.
17. Trapnell C, Roberts A, Goff L, Pertea G, Kim D, Kelley DR et al. Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks. Nat Protoc 2012; 7: 562-578.
18. Basu SN, Kollu R, Banerjee-Basu S. AutDB: a gene reference resource for autism research. Nucleic Acids Res 2009; 37(Database issue): D832-D836.
19. Zhang B, Horvath S. A general framework for weighted gene co-expression network analysis. Stat Appl Gene Mol Biol 2005; 4, Article17.
20. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474: 380-384.
21. Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 2013; 155: 1008-1021.
22. Kasprzyk A. BioMart: driving a paradigm change in biological data management. Database 2011; 2011: bar049.
23. Crespi B, Stead P, Elliot M. Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proc Natl Acad Sci USA 2010; 107(Suppl 1): 1736-1741.
24. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 2013; 45: 1452-1458.
25. Graham SA, Fisher SE. Decoding the genetics of speech and language. Curr Opin Neurobiol 2013; 23: 43-51.
26. Kerin T, Ramanathan A, Rivas K, Grepo N, Coetzee GA, Campbell DB. A noncoding RNA antisense to moesin at 5p14.1 in autism. Science Transl Med 2012; 4: 128ra140.
27. Sperow M, Berry RB, Bayazitov IT, Zhu G, Baker SJ, Zakharenko SS. Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration. J Physiol 2012; 590(Pt 4): 777-792.
28. Kwon CH, Luikart BW, Powell CM, Zhou J, Matheny SA, Zhang W et al. Pten regulates neuronal arborization and social interaction in mice. Neuron 2006; 50: 377-388.
29. Wen Y, Li W, Choudhury GR, He R, Yang T, Liu R et al. Astroglial PTEN Loss Disrupts Neuronal Lamination by Dysregulating Radial Glia-guided Neuronal Migration. Aging Dis 2013; 4: 113-126.
30. Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol 2005; 57: 67-81.
31. Morgan JT, Chana G, Pardo CA, Achim C, Semendeferi K, Buckwalter J et al. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Biol Psychiatry 2010; 68: 368-376.
32. Garbett K, Ebert PJ, Mitchell A, Lintas C, Manzi B, Mirnics K et al. Immune transcriptome alterations in the temporal cortex of subjects with autism. Neurobiol Dis 2008; 30: 303-311.
33. Bourgeron T. A synaptic trek to autism. Curr Opin Neurobiol 2009; 19: 231-234.
34. Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci 2014; 37: 95-105.
35. Won H, Mah W, Kim E. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. Front Mol Neurosci 2013; 6: 19.
36. Maximo JO, Cadena EJ, Kana RK. The implications of brain connectivity in the neuropsychology of autism. Neuropsychol Rev 2014; 24: 16-31.
37. Rudie JD, Shehzad Z, Hernandez LM, Colich NL, Bookheimer SY, Iacoboni M et al. Reduced functional integration and segregation of distributed neural systems underlying social and emotional information processing in autism spectrum disorders. Cerebral Cortex 2012; 22: 1025-1037.
38. Sgado P, Provenzano G, Dassi E, Adami V, Zunino G, Genovesi S et al. Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders. Mol Autism 2013; 4: 51.