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A germline variant associated with acute lymphoblastic leukemia activates an enhancer element resulting in increased GATA3 expression, altered chromatin accessibility and changes in three-dimensional genome organization.
Genome-wide association analysis of gut microbial taxa in a single homogenous population-based cohort of 5,959 Finnish individuals identifies 567 independent SNP–taxon associations, including strong associations with LCT, ABO and MED13L.
A genome-wide association study of 207 taxa and 205 pathways representing gut microbial composition and function from 7,738 individuals of the Dutch Microbiome Project identifies genetic associations at the LCT and ABO loci.
Genome-wide association analyses identify 123 susceptibility loci for migraine and implicate neurovascular mechanisms in its pathophysiology. Subtype analyses highlight risk loci specific for migraine with or without aura in addition to shared risk variants.
This Perspective discusses the analytical issues concerning heterogeneity and power encountered in microbial genome-wide association studies and highlights potential future directions for genetic analysis of the microbiome.
Hi-C and live-imaging data show that nucleoprotein complexes containing the transcription factor Rok interact over long distances in the bacterium Bacillus subtilis. Rok-dependent interactions contribute to anchored chromosomal loop formation.
The function of transposable elements present in mammalian genomes remains an enigma. In this issue, Bodega, Abrignani and colleagues show that LINE1-containing transcripts are key regulators of T cell effector function and exhaustion.
A multi-ancestry expression quantitative trait locus meta-analysis of 3,983 RNA-seq samples from 2,119 donors using the multivariate multiple QTL (mmQTL) approach characterizes the genetics of gene expression in the human brain and identifies candidate causal variants for brain-related traits.
Multi-ancestry genome-wide analyses identify variants near UGT2A1 and UGT2A2 associated with COVID-19-related loss of smell or taste. Both genes are expressed in the olfactory epithelium and play a role in metabolizing odorants.
Non-canonical transcripts containing LINE1 transposable elements maintain naive CD4+ T cell quiescence and interfere with gene expression in cis. LINE1-containing transcripts are downregulated upon T cell activation.
Multi-ancestry fine-mapping of the OAS1/2/3 region shows that a splice site variant in OAS1 is likely responsible for the association of this locus with the risk of severe COVID-19.
Complex disease definitions often represent descriptive umbrella terms of symptoms rather than mechanistic entities. A new study shows how network-based approaches can help identify the mechanisms that link genes, cells, tissues and organs in cardiovascular diseases.
We kick off 2022 by noting that the 200th anniversary of Gregor Mendel’s birth will be on 20 July 2022. We look forward to celebrating this milestone and reflecting on how far the genetics field has developed in 200 years. Here are some of the things that we are most excited about for 2022.
The PARTHENOGENESIS (PAR) gene is identified in apomictic dandelion. A dominant allele has a MITE transposon insertion similar to that found in apomictic hawkweed. Expression of dandelion PAR in lettuce induces embryo-like structures without fertilization.
Transcriptomic analyses of 255 primary human microglial samples from 100 individuals highlight brain region, age, sex and disease states as sources of microglial heterogeneity. Molecular quantitative trait locus analyses implicate variants involved in neurological diseases through effects on gene expression and splicing.
Bidirectional Mendelian randomization analyses in 3,432 Chinese individuals identify putative causal relationships between the gut microbiome and blood metabolite levels.
Genome-wide association analyses of DNA methylation in peripheral blood from 3,799 Europeans and 3,195 South Asians identify unique SNP–CpG associations (meQTL), providing insights into molecular mechanisms and the potential links to phenotypic variation.