Single-neuron and genetic correlates of autistic behavior in macaque

被引:46
作者
Yoshida, Kyoko [1 ,2 ,3 ]
Go, Yasuhiro [4 ,5 ,6 ]
Kushima, Itaru [7 ,8 ]
Toyoda, Atsushi [9 ,10 ]
Fujiyama, Asao [9 ,10 ,11 ]
Imai, Hiroo [12 ]
Saito, Nobuhito [2 ]
Iriki, Atsushi [3 ]
Ozaki, Norio [8 ]
Isoda, Masaki [3 ,5 ,6 ,13 ,14 ,15 ]
机构
[1] Japan Community Healthcare Org, Yugawara Hosp, Yugawara, Kanagawa, Japan
[2] Univ Tokyo, Grad Sch Med, Dept Neurosurg, Tokyo, Japan
[3] RIKEN, Brain Sci Inst, Lab Symbol Cognit Dev, Wako, Saitama, Japan
[4] Natl Inst Nat Sci, Ctr Novel Sci Initiat, Dept Brain Sci, Okazaki, Aichi, Japan
[5] Natl Inst Physiol Sci, Dept Syst Neurosci, Okazaki, Aichi, Japan
[6] SOKENDAI, Dept Physiol Sci, Sch Life Sci, Okazaki, Aichi, Japan
[7] Nagoya Univ, Inst Adv Res, Nagoya, Aichi, Japan
[8] Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi, Japan
[9] Natl Inst Genet, Comparat Genom Lab, Mishima, Shizuoka, Japan
[10] Natl Inst Genet, Adv Genom Ctr, Mishima, Shizuoka, Japan
[11] SOKENDAI, Sch Life Sci, Dept Genet, Mishima, Shizuoka, Japan
[12] Kyoto Univ, Primate Res Inst, Mol Biol Sect, Inuyama, Aichi, Japan
[13] Kansai Med Univ, Sch Med, Dept Physiol, Hirakata, Osaka, Japan
[14] Japan Sci & Technol Agcy, Precursory Res Embryon Sci & Technol, Kawaguchi, Saitama, Japan
[15] Okinawa Inst Sci & Technol, Unit Neural Syst & Behav, Onna, Okinawa, Japan
基金
日本学术振兴会;
关键词
SUPERIOR TEMPORAL SULCUS; RECEPTOR MESSENGER-RNA; 5-HT2C RECEPTOR; SEROTONIN RECEPTOR; CORTICAL ACTIVATION; PREFRONTAL CORTEX; CHOROID-PLEXUS; SCHIZOPHRENIA; MIRROR; ASSOCIATION;
D O I
10.1126/sciadv.1600558
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Atypical neurodevelopment in autism spectrum disorder is a mystery, defying explanation despite increasing attention. We report on a Japanese macaque that spontaneously exhibited autistic traits, namely, impaired social ability as well as restricted and repetitive behaviors, along with our single-neuron and genomic analyses. Its social ability was measured in a turn-taking task, where two monkeys monitor each other's actions for adaptive behavioral planning. In its brain, the medial frontal neurons responding to others' actions, abundant in the controls, were almost nonexistent. In its genes, whole-exome sequencing and copy number variation analyses identified rare coding variants linked to human neuropsychiatric disorders in 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C) and adenosine triphosphate (ATP)-binding cassette subfamily A13 (ABCA13). This combination of systems neuroscience and cognitive genomics in macaques suggests a new, phenotype-to-genotype approach to studying mental disorders.
引用
收藏
页数:12
相关论文
共 101 条
[41]   Neural representation for the perception of the intentionality of actions [J].
Jellema, T ;
Baker, CI ;
Wicker, B ;
Perrett, DI .
BRAIN AND COGNITION, 2000, 44 (02) :280-302
[42]   Variations in myelin and oligodendrocyte-related gene expression across multiple brain regions in schizophrenia: A gene ontology study [J].
Katsel, P ;
Davis, KL ;
Haroutunian, V .
SCHIZOPHRENIA RESEARCH, 2005, 79 (2-3) :157-173
[43]   The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C [J].
Kishore, S ;
Stamm, S .
SCIENCE, 2006, 311 (5758) :230-232
[44]   A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression [J].
Knight, Helen M. ;
Pickard, Benjamin S. ;
Maclean, Alan ;
Malloy, Mary P. ;
Soares, Dinesh C. ;
McRae, Allan F. ;
Condie, Alison ;
White, Angela ;
Hawkins, William ;
McGhee, Kevin ;
van Beck, Margaret ;
MacIntyre, Donald J. ;
Starr, John M. ;
Deary, Ian J. ;
Visscher, Peter M. ;
Porteous, David J. ;
Cannon, Ronald E. ;
St Clair, David ;
Muir, Walter J. ;
Blackwood, Douglas H. R. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) :833-846
[45]  
Langmead B, 2012, NAT METHODS, V9, P357, DOI [10.1038/NMETH.1923, 10.1038/nmeth.1923]
[46]   IDENTIFICATION, EXPRESSION, AND PHARMACOLOGY OF A CYS(23)-SER(23) SUBSTITUTION IN THE HUMAN 5-HT2C RECEPTOR GENE (HTR2C) [J].
LAPPALAINEN, J ;
ZHANG, L ;
DEAN, M ;
OZ, M ;
OZAKI, N ;
YU, DH ;
VIRKKUNEN, M ;
WEIGHT, F ;
LINNOILA, M ;
GOLDMAN, D .
GENOMICS, 1995, 27 (02) :274-279
[47]   Waved aCGH: to smooth or not to smooth [J].
Lepretre, F. ;
Villenet, C. ;
Quief, S. ;
Nibourel, O. ;
Jacquemin, C. ;
Troussard, X. ;
Jardin, F. ;
Gibson, F. ;
Kerckaert, J. P. ;
Roumier, C. ;
Figeac, M. .
NUCLEIC ACIDS RESEARCH, 2010, 38 (07) :e94
[48]   Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder [J].
Lerer, B ;
Macciardi, F ;
Segman, RH ;
Adolfsson, R ;
Blackwood, D ;
Blairy, S ;
Del Favero, J ;
Dikeos, DG ;
Kaneva, R ;
Lilli, R ;
Massat, I ;
Milanova, V ;
Muir, W ;
Noethen, M ;
Oruc, L ;
Petrova, T ;
Papadimitriou, GN ;
Rietschel, M ;
Serretti, A ;
Souery, D ;
Van Gestel, S ;
Van Broeckhoven, C ;
Mendlewicz, J .
MOLECULAR PSYCHIATRY, 2001, 6 (05) :579-585
[49]   Fast and accurate short read alignment with Burrows-Wheeler transform [J].
Li, Heng ;
Durbin, Richard .
BIOINFORMATICS, 2009, 25 (14) :1754-1760
[50]   Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2 [J].
Liu, Zhen ;
Li, Xiao ;
Zhang, Jun-Tao ;
Cai, Yi-Jun ;
Cheng, Tian-Lin ;
Cheng, Cheng ;
Wang, Yan ;
Zhang, Chen-Chen ;
Nie, Yan-Hong ;
Chen, Zhi-Fang ;
Bian, Wen-Jie ;
Zhang, Ling ;
Xiao, Jianqiu ;
Lu, Bin ;
Zhang, Yue-Fang ;
Zhang, Xiao-Di ;
Sang, Xiao ;
Wu, Jia-Jia ;
Xu, Xiu ;
Xiong, Zhi-Qi ;
Zhang, Feng ;
Yu, Xiang ;
Gong, Neng ;
Zhou, Wen-Hao ;
Sun, Qiang ;
Qiu, Zilong .
NATURE, 2016, 530 (7588) :98-+