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Mosaicism is the occurrence in an organism of two or more genetically distinct cell populations derived from the same individual. In human genetics, the consequences of aneuploidy or gene mutation can be less severe if the affected individual also contains some normal cells.
Horitani, Chavkin et al. report that the loss of the Y chromosome in macrophages from failing human hearts correlates with cardiac fibroblast activation and that the deficiency of a single Y chromosome gene, Uty, triggers an epigenetic rewiring in macrophages toward a profibrotic phenotype and increases cardiac fibrosis and dysfunction that can be prevented by TGFβ-neutralizing antibodies.
Genomic analysis of products of conception collected after spontaneous pregnancy loss in the first trimester reveals previously undetected chromosomal aberrations and a higher degree of mosaic chromosomal imbalances.
Population-specific patterns of genomic mutations and selection of haematopoietic clones in Japanese and European participants predict the divergent rates of chronic lymphocytic leukaemia and T cell leukaemia in these populations.
We usually think of an individual's cells as sharing the same genome. Challenging this notion, two new studies show that somatic mosaicism is common and can be an early herald of cancer.
Two papers inNature Geneticsshow that the isocitrate dehydrogenases IDH1 and IDH2 are mutated in two subtypes of the cancer-prone enchondromatosis syndrome.
