Molecular mechanisms of environmental exposures and human disease

Nature Reviews Genetics, Published online: 30 January 2023; doi:10.1038/s41576-022-00569-3Environmental pollutants have been shown to disrupt molecular mechanisms underlying common complex diseases. The authors review the interplay of environmental stressors with the human genome and epigenome as well as other molecular processes, such as production...

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Exon junction complex modulates m⁶A distribution

Nature Reviews Genetics, Published online: 30 January 2023; doi:10.1038/s41576-023-00581-1Two studies have revealed that the characteristic distribution of N6-methyladenosine (m6A) — an RNA modification known to be functionally important for mRNA metabolism among other processes — in mRNA is shaped by the exon junction complex during splicing.

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Pharmacogenomics: current status and future perspectives

Nature Reviews Genetics, Published online: 27 January 2023; doi:10.1038/s41576-022-00572-8In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice....

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Optical filament recording of cellular events

Nature Reviews Genetics, Published online: 25 January 2023; doi:10.1038/s41576-023-00579-9Two new studies in Nature Biotechnology describe cellular recording systems that incorporate time-resolved optical signals into self-assembling protein filaments.

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Stem cell-derived organoid models: defying the Hayflick limit

Nature Reviews Genetics, Published online: 25 January 2023; doi:10.1038/s41576-023-00577-xIn this Journal club, Meritxell Huch recalls a dogma postulated by Hayflick in 1961, that the capacity for propagating primary epithelial cells with normal ploidy is limited — a theory that persisted until the advent of organoid cultures.

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Navigating the pitfalls of mapping DNA and RNA modifications

Nature Reviews Genetics, Published online: 18 January 2023; doi:10.1038/s41576-022-00559-5The ability to map DNA and RNA modifications has improved our understanding of these marks, but in some cases inconsistent results have been problematic. Here, Kong et al. discuss how to recognize and resolve issues associated with commonly used sequencing-based...

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Mapping the minutiae of the human methylome

Nature Reviews Genetics, Published online: 16 January 2023; doi:10.1038/s41576-023-00576-yA study in Nature reports comprehensive, genome-wide mapping of the human methylome that provides mechanistic insights into gene regulation and offers great potential for analysis of cell-free DNA.

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Prioritizing the detection of rare pathogenic variants in population screening

Nature Reviews Genetics, Published online: 13 January 2023; doi:10.1038/s41576-022-00571-9Lacaze et al. caution against the use of polygenic scores alone for population screening in the absence of monogenic testing.

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Advances of aneuploidy research in the maternal germline

Nature Reviews Genetics, Published online: 12 January 2023; doi:10.1038/s41576-022-00573-7Sérgio Pena discusses a 2019 study by Gruhn et al., which showed that meiotic chromosome segregation errors originating in oocytes determine the curve of female fertility in humans.

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Down memory lane — unravelling the puzzle of gene regulation

Nature Reviews Genetics, Published online: 12 January 2023; doi:10.1038/s41576-023-00575-zSelene Fernandez-Valverde recalls a seminal publication by Jacob and Monod to showcase how thoughtful reasoning and extrapolation of limited observations can provide meaningful insights into complex systems.

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