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Few genetic alterations have been linked to metastasis, during which cancer cells acquire abnormal migratory behavior. A new study sheds light on how loss of NECTIN1 leads to melanoma dissemination after local depletion of IGF1.
The evolutionary benefits of ongoing endogenous retrovirus (ERV) mobility in animals are largely unknown. A new paradigm suggests activation of the ERV family mdg4 at the fruitfly pupal stage may bolster adult antiviral defenses.
Expression of mdg4 retrotransposons during Drosophila metamorphosis activates the antiviral NF-κB factor Relish. Silencing of mdg4 or Relish at the pupal stage leads to an inability to clear exogenous viruses in adulthood.
Mutations in the sodium channel NALCN promote epithelial cell shedding and dissemination independent of oncogenic transformation. This observation suggests that metastasis may not uniformly represent the end stage of carcinogenesis but can occur before oncogenic transformation.
A new study identifies prolyl hydroxylation of histone H3 as a signal for the recruitment of KDM5A, altering H3K4me3 and gene expression. H3P16oh is independent of the HIF hypoxia-sensing pathway and provides a further layer of complexity to oxygen-sensitive chromatin modifications.
EGLN2 hydroxylates histone H3 at proline 16, enhancing the binding of KDM5A to H3K4me3. Genome- and transcriptome-wide analyses show that the EGLN2–KDM5A axis regulates target gene expression in mammalian cells.
Adult human kidney organoids or tubuloids are derived from an epithelial CD24+ subpopulation in the proximal nephron and can be utilized for advanced disease modeling of the most common hereditary kidney disease: autosomal dominant polycystic kidney disease.
Genome sequencing and analysis of public epigenomic data enabled the identification of disease-causing variants in a non-coding regulatory region of hexokinase 1 (HK1) in individuals with congenital hyperinsulinism. These variants caused inappropriate HK1 expression within pancreatic β-cells, which led to increased insulin secretion and hypoglycemia.
De novo variants altering a conserved region in an intron of HK1 cause congenital hyperinsulinism by perturbing the activity of a putative cell type-specific regulatory element.
Whole-genome sequencing of chronic lymphocytic leukemia from 485 patients identifies putative coding and noncoding drivers of disease. Genomically defined subgroups show distinct clinical and biological characteristics.
Ectopic imprinting control regions (ICRs) recapitulate chromatin states of endogenous imprinted loci in mouse embryonic stem cells. ATF7IP and ZMYM2 regulate epigenetic memory at ICRs.
Multi-ancestry genome-wide association analyses identify 124 risk loci for rheumatoid arthritis, of which 34 are novel. A polygenic risk score based on multi-ancestry data showed comparable performance between populations of European and East Asian ancestries.
Cancer cells frequently amplify oncogenes on DNA molecules outside of chromosomes — extrachromosomal DNA. A technique adapted for isolation of extrachromosomal DNA, termed CRISPR-CATCH, enables analyses of its genetic and epigenetic compositions, which provides insights into its origin, structural diversity and mechanism of oncogene activation in cancer.
We present a high-resolution genomic variation map that greatly expands the sequence information for maize and its wild relatives in the Zea genus. Population genetics of Zea spp. provide a vast trove of adaptive alleles that are absent in maize, with the potential for accelerating future breeding by reintroducing genetic diversity.
Genetic risk factors for autism include both rare and common variants. A study shows that rare copy number variants and common variants across 16p that contribute to autism risk functionally converge to downregulate the expression of a large group of neuronally expressed genes in the 16p subtelomeric region.
Adult kidney organoids, or tubuloids, originate from CD24+ epithelial cells. Tubuloids represent a functional kidney tubule and can be used to model autosomal dominant polycystic kidney disease and study drug response.