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The mountains represent wild-type topologically associating domains (TADs), and the reflection in the water below depicts the rearranged TADs present on Drosophila balancer chromosomes. Although there are many changes in topology (the landscape), these have little effect on gene expression.
Record high temperatures are being seen worldwide, thus placing strains on human health and disrupting the availability of essential resources such as food and water. Aberrant weather patterns in the form of intense storms or prolonged drought have put pressure on our agricultural systems and underscored the need for adaptation to a changing climate across many sectors. Complex problems require complex solutions, and genetic approaches could be a powerful tool for helping to mitigate the effects of climate change.
Chromatin loops and domains are major organizational hallmarks of chromosomes. New work suggests, however, that these topological features of the genome are poor global predictors of gene activity, raising questions about their function.
Genome-wide analyses identify eight independent loci associated with anorexia nervosa. Genetic correlations implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.
Long-read sequencing identifies a GGC repeat expansion in NOTCH2NLC that is associated with neuronal intranuclear inclusion disease, a progressive neurodegenerative disorder. The expansion results in abnormal anti-sense transcripts that could contribute to disease pathogenesis.
Whole-genome sequencing identifies noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and oculopharyngeal myopathy with leukoencephalopathy, three disorders with overlapping clinical features and neuroimaging findings.
Exome sequencing identifies loss-of-function CELA2A mutations in families with early-onset atherosclerosis and metabolic syndrome. Functional studies show that CELA2A is a circulating enzyme that reduces platelet activation, triggers insulin secretion and degradation, and increases insulin sensitivity.
The authors use theoretical justifications coupled with extensive simulations to accurately estimate SNP-heritability for 22 complex traits and diseases from the UK Biobank data, irrespective of the underlying genetic architecture of the trait.
An integrative three-dimensional genomic and transcriptional profiling of four human neural cell types links regulatory elements to their target genes and elucidates the function of noncoding variants in neuropsychiatric disorders.
Removal of boundary and intra-TAD CTCF-binding sites at the Sox9–Kcnj2 locus in mice leads to TAD fusion but no major changes in gene expression. Gene misexpression and disease phenotypes were obtained through inversions and/or repositioning of TAD boundaries.