Genetics of the nervous system

Genetics of the nervous system refers to the study of genetics affecting the development, physiology and functions of the nervous system and diseases thereof.

Latest Research and Reviews

  • Research | | open

    Despite the known role of midbrain dopaminergic (mDA) signaling in the homeostatic control of mood and motor functions, little is known about how gene expression in these neurons is regulated. Here, authors develop an in vivo nuclear tagging and capture technique for low-input chromatin accessibility and transcriptome profiling of genetically-defined neuron populations to identify Gmeb1 as a novel transcriptional regulator of mDA neurons, whose loss of function impairs motor control in mice.

    • Luis M. Tuesta
    • , Mohamed N. Djekidel
    • , Renchao Chen
    • , Falong Lu
    • , Wengang Wang
    • , Bernardo L. Sabatini
    •  & Yi Zhang
  • Research | | open

    Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.

    • Atsushi Takata
    • , Mitsuko Nakashima
    • , Hirotomo Saitsu
    • , Takeshi Mizuguchi
    • , Satomi Mitsuhashi
    • , Yukitoshi Takahashi
    • , Nobuhiko Okamoto
    • , Hitoshi Osaka
    • , Kazuyuki Nakamura
    • , Jun Tohyama
    • , Kazuhiro Haginoya
    • , Saoko Takeshita
    • , Ichiro Kuki
    • , Tohru Okanishi
    • , Tomohide Goto
    • , Masayuki Sasaki
    • , Yasunari Sakai
    • , Noriko Miyake
    • , Satoko Miyatake
    • , Naomi Tsuchida
    • , Kazuhiro Iwama
    • , Gaku Minase
    • , Futoshi Sekiguchi
    • , Atsushi Fujita
    • , Eri Imagawa
    • , Eriko Koshimizu
    • , Yuri Uchiyama
    • , Kohei Hamanaka
    • , Chihiro Ohba
    • , Toshiyuki Itai
    • , Hiromi Aoi
    • , Ken Saida
    • , Tomohiro Sakaguchi
    • , Kouhei Den
    • , Rina Takahashi
    • , Hiroko Ikeda
    • , Tokito Yamaguchi
    • , Kazuki Tsukamoto
    • , Shinsaku Yoshitomi
    • , Taikan Oboshi
    • , Katsumi Imai
    • , Tomokazu Kimizu
    • , Yu Kobayashi
    • , Masaya Kubota
    • , Hirofumi Kashii
    • , Shimpei Baba
    • , Mizue Iai
    • , Ryutaro Kira
    • , Munetsugu Hara
    • , Masayasu Ohta
    • , Yohane Miyata
    • , Rie Miyata
    • , Jun-ichi Takanashi
    • , Jun Matsui
    • , Kenji Yokochi
    • , Masayuki Shimono
    • , Masano Amamoto
    • , Rumiko Takayama
    • , Shinichi Hirabayashi
    • , Kaori Aiba
    • , Hiroshi Matsumoto
    • , Shin Nabatame
    • , Takashi Shiihara
    • , Mitsuhiro Kato
    •  & Naomichi Matsumoto
  • Research | | open

    Different classes of human evolved regulatory elements are located in non-coding regions of the genome. The authors connect the expansion of the cortical surface and connectivity with human evolved elements and show that their target genes are involved in neurodevelopmental disease susceptibility.

    • Hyejung Won
    • , Jerry Huang
    • , Carli K. Opland
    • , Chris L. Hartl
    •  & Daniel H. Geschwind
  • Research | | open

    Dopamine dysregulation is centrally linked to major psychosis. Here, the authors characterise the hypomethylation of an enhancer within the insulin-like growth factor 2 gene in neurons of patients with major psychosis and provide evidence that this enhancer targets the tyrosine hydroxylase gene, responsible for dopamine synthesis.

    • Shraddha Pai
    • , Peipei Li
    • , Bryan Killinger
    • , Lee Marshall
    • , Peixin Jia
    • , Ji Liao
    • , Arturas Petronis
    • , Piroska E. Szabó
    •  & Viviane Labrie

News and Comment