Genetics of the nervous system articles within Nature

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  • Perspective |

    Technical developments and large collaborative research networks in neurogenomics promise rapid progress in neuroscience, but translation of results from model systems to human brains is limited by sample availability, technical challenges and ethical issues.

    • Genevieve Konopka
    •  & Aparna Bhaduri

  • Article
    | Open Access

    An in vivo single-cell CRISPR screening method identifies transcriptional phenotypes of 22q11.2 deletion syndrome associated with a broad dysregulation of a class of disease susceptibility genes that are important for RNA processing and synaptic function.

    • Antonio J. Santinha
    • , Esther Klingler
    •  & Randall J. Platt

  • Article
    | Open Access

    Transcriptomic analysis following epidural electrical stimulation of the lumbar spinal cord during neurorehabilitation in mice identifies a population of neurons that orchestrates the restoration of walking following paralysis.

    • Claudia Kathe
    • , Michael A. Skinnider
    •  & Grégoire Courtine

  • Article
    | Open Access

    RNA sequencing reveals widespread transcriptomic changes across the cerebral cortex in autism spectrum disorder, including primary sensory regions, in addition to association regions, as well as an attenuation of regional identity.

    • Michael J. Gandal
    • , Jillian R. Haney
    •  & Daniel H. Geschwind

  • Article |

    A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

    • Vassily Trubetskoy
    • , Antonio F. Pardiñas
    •  & Jim van Os

  • Article
    | Open Access

    A new technique called immunoGAM, which combines genome architecture mapping (GAM) with immunoselection, enabled the discovery of specialized chromatin conformations linked to gene expression in specific cell populations from mouse brain tissues.

    • Warren Winick-Ng
    • , Alexander Kukalev
    •  & Ana Pombo

  • Article |

    The human-specific gene duplication SRGAP2C is identified as a modifier of structural and functional features of cortical circuits leading to improved behavioural performance that may have allowed the emergence of cognitive properties characterizing the human brain.

    • Ewoud R. E. Schmidt
    • , Hanzhi T. Zhao
    •  & Franck Polleux

  • Article
    | Open Access

    A combination of genetic strategies and tools is used to define and fate-map different subtypes of glutamatergic pyramidal neurons according to their developmental and molecular programs, providing insight into the assembly of cortical processing networks.

    • Katherine S. Matho
    • , Dhananjay Huilgol
    •  & Z. Josh Huang

  • Article
    | Open Access

    An examination of motor cortex in humans, marmosets and mice reveals a generally conserved cellular makeup that is likely to extend to many mammalian species, but also differences in gene expression, DNA methylation and chromatin state that lead to species-dependent specializations.

    • Trygve E. Bakken
    • , Nikolas L. Jorstad
    •  & Ed S. Lein

  • Article |

    The transcriptional programs and chromatin accessibility changes that cause two related interneuronal subtypes to diverge from common developmental origins and acquire specialized properties are elucidated.

    • Kathryn C. Allaway
    • , Mariano I. Gabitto
    •  & Gord Fishell

  • Article |

    Genomic integration of an adeno-associated virus vector in a mouse model of Angelman syndrome unsilences paternal Ube3a and rescues anatomical and behavioural phenotypes, suggesting a pathway towards the treatment of this neurodevelopmental disorder.

    • Justin M. Wolter
    • , Hanqian Mao
    •  & Mark J. Zylka

  • Article |

    Single-nucleus RNA-sequencing analyses of brain from humans, macaques, marmosets, mice and ferrets reveal diverse ways that interneuron populations have changed during evolution.

    • Fenna M. Krienen
    • , Melissa Goldman
    •  & Steven A. McCarroll

  • Article |

    Genome-wide analysis of tandem DNA repeats in the genomes of individuals with autism spectrum disorder and control participants reveals a strong contribution of tandem repeat expansions to the genetic aetiology and phenotypic complexity of autism spectrum disorder.

    • Brett Trost
    • , Worrawat Engchuan
    •  & Ryan K. C. Yuen

  • Article
    | Open Access

    Genome-wide association studies of brain imaging data from 8,428 individuals in UK Biobank show that many of the 3,144 traits studied are heritable, and genes associated with individual phenotypes are identified.

    • Lloyd T. Elliott
    • , Kevin Sharp
    •  & Stephen M. Smith

  • Article |

    Natural isolates of Caenorhabditis elegans nematodes differ in their sensitivity to the anti-exploratory pheromone icas#9, yielding two distinct foraging strategies that possess different survival advantages depending on environmental conditions such as food distribution.

    • Joshua S. Greene
    • , Maximillian Brown
    •  & Cornelia I. Bargmann

  • Article |

    A high-resolution gene expression atlas of prenatal and postnatal brain development of rhesus monkey charts global transcriptional dynamics in relation to brain maturation, while comparative analysis reveals human-specific gene trajectories; candidate risk genes associated with human neurodevelopmental disorders tend to be co-expressed in disease-specific patterns in the developing monkey neocortex.

    • Trygve E. Bakken
    • , Jeremy A. Miller
    •  & Ed S. Lein

  • Article
    | Open Access

    The draft genome of the ctenophore Pleurobrachia bachei (Pacific sea gooseberry) is presented, together with ten other ctenophore transcriptomes — these genomes have a very different neurogenic, immune and developmental gene content when compared with other animal genomes, and it is proposed that ctenophore neural systems, and possibly muscle specification, evolved independently from those in other animals.

    • Leonid L. Moroz
    • , Kevin M. Kocot
    •  & Andrea B. Kohn

  • Article |

    Sexual experience brings radical changes in how male mice behave with pups—virgin males attack them whereas mature fathers display parental care; here the authors identify a subset of hypothalamic neurons whose ablation leads to parental deficits in both males and females, and whose activation in virgin males suppresses aggression and induces pup grooming.

    • Zheng Wu
    • , Anita E. Autry
    •  & Catherine G. Dulac

  • Article |

    The authors report the largest family-trio exome sequencing study of schizophrenia to date; mutations are overrepresented in genes for glutamatergic synaptic proteins and also genes mutated in autism and intellectual disability, providing insights into aetiological mechanisms and pathopshyisology shared with other neurodevelopmental disorders.

    • Menachem Fromer
    • , Andrew J. Pocklington
    •  & Michael C. O’Donovan

  • Article |

    Laser microdissection and microarrays are used to assess 900 precise subdivisions of the brains from three healthy men with 60,000 gene expression probes; the resulting atlas allows comparisons between humans and other animals, and will facilitate studies of human neurological and psychiatric diseases.

    • Michael J. Hawrylycz
    • , Ed S. Lein
    •  & Allan R. Jones

  • Letter
    | Open Access

    A premature stop codon in the DMRT3 gene has a major effect on the pattern of locomotion in horses, and the Dmrt3 transcription factor is critical in the development of a coordinated locomotor network in mice, suggesting that it has an important role in configuring the spinal circuits that control stride.

    • Lisa S. Andersson
    • , Martin Larhammar
    •  & Klas Kullander

  • Article |

    This study shows that nematodes without a germ line re-allocate resources to the soma, resulting in elevated proteasome activity, clearance of damaged proteins and increased longevity; this activity is associated with the increased expression of rpn-6 mediated by the transcription factor DAF-16.

    • David Vilchez
    • , Ianessa Morantte
    •  & Andrew Dillin

  • Article |

    Disruption of the lactate transporter monocarboxylate transporter 1 (MCT1), which is highly enriched within oligodendroglia and reduced in patients with amyotrophic lateral sclerosis (ALS), causes axon damage and neurodegeneration in animal and cell culture models, suggesting a fundamental role for MCT1 in metabolic support of axons and ALS pathogenesis.

    • Youngjin Lee
    • , Brett M. Morrison
    •  & Jeffrey D. Rothstein

  • News & Views |

    Several genes were duplicated during human evolution. It seems that one such duplication gave rise to a gene that may have helped to make human brains bigger and more adaptable than those of our ancestors.

    • Daniel H. Geschwind
    •  & Genevieve Konopka

  • Letter |

    Overexpression of all 29 human transcripts of a region of the 16p11.2 chromosome in zebrafish embryos identifies KCTD13 as the message inducing the microcephaly phenotype associated with 16p11.2 duplication, whereas its suppression yields the macrocephalic phenotype associated with the reciprocal deletion, suggesting that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 copy number variants.

    • Christelle Golzio
    • , Jason Willer
    •  & Nicholas Katsanis

  • Letter |

    Altered glutamatergic neurotransmission can lead to the core symptoms of autism, and ProSAP1/Shank2 and ProSAP2/Shank3 proteins seem to serve different interrelated functions at excitatory synapses, especially in glutamate receptor targeting/assembly.

    • Michael J. Schmeisser
    • , Elodie Ey
    •  & Tobias M. Boeckers

  • Letter |

    Exome sequencing on a large cohort of parent–child trios with sporadic autism spectrum disorders shows that de novo point mutations are mainly paternal in origin and positively correlate with paternal age, and identifies a highly interconnected network formed from the products of the most severe mutations.

    • Brian J. O’Roak
    • , Laura Vives
    •  & Evan E. Eichler

  • Letter |

    Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those that do are distributed across many genes and are incompletely penetrant, further supporting extreme genetic heterogeneity of this spectrum disorder.

    • Benjamin M. Neale
    • , Yan Kou
    •  & Mark J. Daly

  • Letter |

    The nuclear receptors REV-ERB-α and REV-ERB-β are indispensible for the coordination of circadian rhythm and metabolism; mice without these nuclear receptors show disrupted circadian expression of core circadian clock and lipid homeostatic gene networks.

    • Han Cho
    • , Xuan Zhao
    •  & Ronald M. Evans

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