Single-neuron and genetic correlates of autistic behavior in macaque.
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.
Japan Community Healthcare Organization Yugawara Hospital, Yugawara, Kanagawa, Japan.; Department of Neurosurgery, The University of Tokyo Graduate School of Medicine, Hongo, Tokyo, Japan.; Laboratory for Symbolic Cognitive Development, RIKEN Brain Science Institute, Wako, Saitama, Japan.
Kyoko
K
Yoshida
Department of Brain Sciences, Center for Novel Science Initiatives, National Institutes of Natural Sciences, Okazaki, Aichi, Japan.; Department of System Neuroscience, National Institute for Physiological Sciences, Okazaki, Aichi, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi, Japan.
Yasuhiro
Y
Go
Institute for Advanced Research, Nagoya University, Nagoya, Aichi, Japan.; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Itaru
I
Kushima
Comparative Genomics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.; Advanced Genomics Center, National Institute of Genetics, Mishima, Shizuoka, Japan.
Atsushi
A
Toyoda
Comparative Genomics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.; Advanced Genomics Center, National Institute of Genetics, Mishima, Shizuoka, Japan.; Department of Genetics, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Mishima, Shizuoka, Japan.
Asao
A
Fujiyama
Molecular Biology Section, Primate Research Institute, Kyoto University, Inuyama, Aichi, Japan.
Hiroo
H
Imai
Department of Neurosurgery, The University of Tokyo Graduate School of Medicine, Hongo, Tokyo, Japan.
Nobuhito
N
Saito
Laboratory for Symbolic Cognitive Development, RIKEN Brain Science Institute, Wako, Saitama, Japan.
Atsushi
A
Iriki
Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Norio
N
Ozaki
Laboratory for Symbolic Cognitive Development, RIKEN Brain Science Institute, Wako, Saitama, Japan.; Department of System Neuroscience, National Institute for Physiological Sciences, Okazaki, Aichi, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi, Japan.; Department of Physiology, Kansai Medical University School of Medicine, Hirakata, Osaka, Japan.; Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Kawaguchi, Saitama, Japan.; Unit on Neural Systems and Behavior, Okinawa Institute of Science and Technology, Onna, Okinawa, Japan.
Masaki
M
Isoda
Autism; behavioral neuroscience; developmental neuroscience; genomic analysis; neurons
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