Genetics articles within Nature

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  • Article
    | Open Access

    Latrophilin-3 organizes synapses through a convergent dual-pathway mechanism in which Gαs signalling is activated and phase-separated postsynaptic protein scaffolds are recruited.

    • Shuai Wang
    • , Chelsea DeLeon
    •  & Thomas C. Südhof

  • Article
    | Open Access

    Low-affinity transcription factor binding sites are prevalent across the genome, and single nucleotide changes that increase binding affinity even slightly can cause gain-of-function gene expression and phenotypes (such as polydactyly).

    • Fabian Lim
    • , Joe J. Solvason
    •  & Emma K. Farley

  • News & Views |

    An exploration of more than 1,600 ancient Eurasian genomes suggests that genetic changes that increase autoimmune-disease risk in modern Europeans could have protected ancient Europeans from pathogens.

    • Samira Asgari
    •  & Lionel A. Pousaz

  • Research Briefing |

    An analysis of the genomes of hybrids of distinct swordtail fish species uncovered a lethal incompatibility between certain combinations of nuclear and mitochondrial genes that encode subunits of complex I — a component of the mitochondrial respiratory chain. The evolutionary history of this incompatibility indicates that the genes involved were transferred between the species through hybridization in the past.

  • Article
    | Open Access

    Integrated data, including 100 human genomes from the Mesolithic, Neolithic and Early Bronze Age periods show that two major population turnovers occurred over just 1,000 years in Neolithic Denmark, resulting in dramatic changes in the genes, diet and physical appearance of the local people, as well as the landscape in which they lived.

    • Morten E. Allentoft
    • , Martin Sikora
    •  & Eske Willerslev

  • Article
    | Open Access

    Analysis of naturally hybridizing swordtail fish species reveals a mitonuclear genetic incompatibility among three genes that encode components of mitochondrial respiratory complex I, providing insights into the emergence of hybrid incompatibilities and reproductive barriers.

    • Benjamin M. Moran
    • , Cheyenne Y. Payne
    •  & Molly Schumer

  • Article
    | Open Access

    An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.

    • Morten E. Allentoft
    • , Martin Sikora
    •  & Eske Willerslev

  • Article
    | Open Access

    Analyses of imputed ancient genomes and of samples from the UK Biobank indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.

    • Evan K. Irving-Pease
    • , Alba Refoyo-Martínez
    •  & Eske Willerslev

  • Research Briefing |

    A type of sodium channel previously thought to be specific to neurons is also present in chondrocytes — cells that are crucial for joint health. Despite having low density, the sodium channels have an outsized role in the progression of osteoarthritis, and their genetic deletion or pharmacological inhibition reduced joint damage in mouse models.

  • Article
    | Open Access

    A meta-analysis of associations between human genetic variation and gut microbial structural variations shows that ABO genotype differentially affects the presence of Faecalibacterium prausnitzii strains containing GalNAc utilization pathway in the gut.

    • Daria V. Zhernakova
    • , Daoming Wang
    •  & Jingyuan Fu

  • Article
    | Open Access

    Analysis of the effects of more than 26,000 KRAS mutations on abundance and interactions with six other proteins is used to construct an energy landscape of KRAS and identify allosteric drug target sites.

    • Chenchun Weng
    • , Andre J. Faure
    •  & Ben Lehner

  • News & Views |

    A tool that tags individual cells in a tissue with a unique barcode means that the gene-expression profile of each cell can be plotted in its original location. This allows spatial information to be captured at single-cell resolution.

    • Patrik L. Ståhl

  • News & Views Forum |

    In a huge collaborative effort, millions of cells in the mouse brain have been mapped in detail. Two scientists examine the resulting wealth of insights into gene regulation in brain cells, neuronal connections and how our own brains evolved.

    • Maria Antonietta Tosches
    •  & Heather J. Lee

  • Article
    | Open Access

    Population-scale whole-genome sequencing across four remote Indigenous Australian communities reveals a large fraction of structural variants that are unique to these populations, emphasizing the genetic distinctiveness of and diversity among Indigenous Australians.

    • Andre L. M. Reis
    • , Melissa Rapadas
    •  & Ira W. Deveson

  • News & Views |

    Maternal sensitivity to a hormone produced by the fetus might underlie the risk of severe nausea and vomiting in human pregnancy — a finding that could open up strategies for the treatment of this debilitating condition.

    • Alice E. Hughes
    •  & Rachel M. Freathy

  • Article
    | Open Access

    Analysis of the genomes of 159 individuals from four Indigenous communities in Australia shows a high level of genetic variation and demonstrates the need for greater representation of Indigenous Australians in reference panels and clinical databases.

    • Matthew Silcocks
    • , Ashley Farlow
    •  & Stephen Leslie

  • Article
    | Open Access

    A single-cell multiomics analysis of over 200,000 cells of the primary motor cortex of human, macaque, marmoset and mouse shows that divergence of transcription factor expression corresponds to species-specific epigenome landscapes, and conserved and divergent gene regulatory features are reflected in the evolution of the three-dimensional genome.

    • Nathan R. Zemke
    • , Ethan J. Armand
    •  & Bing Ren

  • Article
    | Open Access

    A study describes the molecular basis of sexual development of Toxoplasma gondii entirely in vitro, demonstrating the role and interaction of AP2XII-1 and AP2XI-2 in the developmental program of this protozoan parasite.

    • Ana Vera Antunes
    • , Martina Shahinas
    •  & Mohamed-Ali Hakimi

  • Article
    | Open Access

    Elevated circulating levels of GDF15 in pregnant women are associated with severe nausea and vomiting, and sensitivity to such symptoms during pregnancy is partly determined by prepregnancy levels of this hormone.

    • M. Fejzo
    • , N. Rocha
    •  & S. O’Rahilly

  • Article
    | Open Access

    This study uses epi-retro-seq to link single-cell epigenomes and cell types to long-distance projections for neurons dissected from different regions projecting to different targets across the whole mouse brain.

    • Jingtian Zhou
    • , Zhuzhu Zhang
    •  & Edward M. Callaway

  • Article
    | Open Access

    Deep learning models were used to design synthetic cell-type-specific enhancers that work in fruit fly brains and human cell lines, an approach that also provides insights into these gene regulatory elements.

    • Ibrahim I. Taskiran
    • , Katina I. Spanier
    •  & Stein Aerts

  • Article |

    A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

    • Siwei Chen
    • , Laurent C. Francioli
    •  & Konrad J. Karczewski

  • Article
    | Open Access

    Using single-cell and spatial transcriptomics, human embryonic limb development across space and time and the diversification and cross-species conservation of cells are demonstrated.

    • Bao Zhang
    • , Peng He
    •  & Sarah A. Teichmann

  • Article |

    Integration of multiomics data with functional analysis of pancreatic tissues from individuals with early-stage type 2 diabetes indicates that the genetic risk converges on RFX6, which regulates chromatin architecture at multiple risk loci.

    • John T. Walker
    • , Diane C. Saunders
    •  & Marcela Brissova

  • Research Briefing |

    Analysis of a massive genomic data set reveals the profound effects that the movement of Bantu-speaking peoples had on Africa’s biological, linguistic and cultural landscape. These findings provide valuable insights for a wide range of disciplines and serve as a comprehensive data set of ancient and modern African individuals for comparative studies.

  • News & Views |

    A transcription factor in immune cells forms an unexpectedly ladder-like complex with two DNA molecules, allowing the expression of genes that these cells need to suppress harmful immune responses.

    • Zhi Liu
    •  & Ye Zheng

  • Article
    | Open Access

    After loss of MSL2, a class of dosage-sensitive genes transitions from biallelic to monoallelic expression, whereby one allele remains active, retaining active histone modifications and transcription factor binding, and the other allele is silenced, exhibiting loss of promoter–enhancer contacts and the acquisition of DNA methylation.

    • Yidan Sun
    • , Meike Wiese
    •  & Asifa Akhtar

  • Article
    | Open Access

    Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.

    • Lukas F. K. Kuderna
    • , Jacob C. Ulirsch
    •  & Kyle Kai-How Farh

  • Article
    | Open Access

    We gathered genetic data for 1,763 individuals from 147 populations across 14 African countries, and 12 Late Iron Age individuals, to trace the expansion of Bantu-speaking peoples over the past 6,000 years.

    • Cesar A. Fortes-Lima
    • , Concetta Burgarella
    •  & Carina M. Schlebusch

  • News & Views |

    Genomic data from ancient humans who lived up to 7,400 years ago, sampled from across California and Mexico, unveil patterns of migration that could explain how some Indigenous languages spread in parts of North America.

    • Alan Izarraras-Gomez
    •  & Diego Ortega-Del Vecchyo

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