Steven P. Djordjevic, Veronica M. Jarocki, Torsten Seemann, Max L. Cummins, Anne E. Watt, Barbara Drigo, Ethan R. Wyrsch, Cameron J. Reid, Erica Donner, Benjamin P. Howden
{"title":"Genomic surveillance for antimicrobial resistance — a One Health perspective","authors":"Steven P. Djordjevic, Veronica M. Jarocki, Torsten Seemann, Max L. Cummins, Anne E. Watt, Barbara Drigo, Ethan R. Wyrsch, Cameron J. Reid, Erica Donner, Benjamin P. Howden","doi":"10.1038/s41576-023-00649-y","DOIUrl":"10.1038/s41576-023-00649-y","url":null,"abstract":"Antimicrobial resistance (AMR) — the ability of microorganisms to adapt and survive under diverse chemical selection pressures — is influenced by complex interactions between humans, companion and food-producing animals, wildlife, insects and the environment. To understand and manage the threat posed to health (human, animal, plant and environmental) and security (food and water security and biosecurity), a multifaceted ‘One Health’ approach to AMR surveillance is required. Genomic technologies have enabled monitoring of the mobilization, persistence and abundance of AMR genes and mutations within and between microbial populations. Their adoption has also allowed source-tracing of AMR pathogens and modelling of AMR evolution and transmission. Here, we highlight recent advances in genomic AMR surveillance and the relative strengths of different technologies for AMR surveillance and research. We showcase recent insights derived from One Health genomic surveillance and consider the challenges to broader adoption both in developed and in lower- and middle-income countries. Antimicrobial resistance (AMR) is an important public health issue that affects human, animal and environmental sectors worldwide. The authors review the role of genomics in AMR surveillance using a One Health approach, and how genomic approaches can help mitigate the spread of AMR to improve global health.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 2","pages":"142-157"},"PeriodicalIF":42.7,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41141979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sequencing to save the Kākāpō","authors":"Michael Attwaters","doi":"10.1038/s41576-023-00661-2","DOIUrl":"10.1038/s41576-023-00661-2","url":null,"abstract":"Guhlin et al. sequenced the genomes of almost the entire extant population of the critically-endangered kākāpō, revealing genetic variants for fitness-related traits that can inform conservation strategies.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 11","pages":"736-736"},"PeriodicalIF":42.7,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41154692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martha L. Bulyk, Jacques Drouin, Melissa M. Harrison, Jussi Taipale, Kenneth S. Zaret
{"title":"Pioneer factors — key regulators of chromatin and gene expression","authors":"Martha L. Bulyk, Jacques Drouin, Melissa M. Harrison, Jussi Taipale, Kenneth S. Zaret","doi":"10.1038/s41576-023-00648-z","DOIUrl":"10.1038/s41576-023-00648-z","url":null,"abstract":"Pioneer factors are a group of transcription factors with important roles in gene regulation during development. Their unique ability to bind to compacted chromatin, promoting its remodelling for gene expression, sets them apart from other regulatory proteins and makes them essential players in cellular differentiation, fate determination and reprogramming. Here, we have tasked five experts with discussing our current understanding of pioneer factors and their functions to showcase why exploring these proteins offers unique insights into gene regulation and cellular identity. Five leading researchers provide their perspectives on our current understanding of pioneer factors and their important gene regulatory roles in cell differentiation, cell fate determination and reprogramming.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 12","pages":"809-815"},"PeriodicalIF":42.7,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41128362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Predicting the effects of multigene perturbations","authors":"Henry Ertl","doi":"10.1038/s41576-023-00659-w","DOIUrl":"10.1038/s41576-023-00659-w","url":null,"abstract":"Roohani et al. have developed a deep learning tool called GEARS that predicts the effects of multigene perturbations.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 11","pages":"736-736"},"PeriodicalIF":42.7,"publicationDate":"2023-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41134713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"More than a decade of genetic research on the Denisovans","authors":"Stéphane Peyrégne, Viviane Slon, Janet Kelso","doi":"10.1038/s41576-023-00643-4","DOIUrl":"10.1038/s41576-023-00643-4","url":null,"abstract":"Denisovans, a group of now extinct humans who lived in Eastern Eurasia in the Middle and Late Pleistocene, were first identified from DNA sequences just over a decade ago. Only ten fragmentary remains from two sites have been attributed to Denisovans based entirely on molecular information. Nevertheless, there has been great interest in using genetic data to understand Denisovans and their place in human history. From the reconstruction of a single high-quality genome, it has been possible to infer their population history, including events of admixture with other human groups. Additionally, the identification of Denisovan DNA in the genomes of present-day individuals has provided insights into the timing and routes of dispersal of ancient modern humans into Asia and Oceania, as well as the contributions of archaic DNA to the physiology of present-day people. In this Review, we synthesize more than a decade of research on Denisovans, reconcile controversies and summarize insights into their population history and phenotype. We also highlight how our growing knowledge about Denisovans has provided insights into our own evolutionary history. Ancient DNA studies over the past decade have yielded a plethora of insights into the Denisovan archaic hominin group. The authors review our understanding of Denisovan population history and their interactions with other human groups, insights from studies of Denisovan ancestry in modern humans, what we know about the Denisovan phenotype and their impact on our own evolutionary history.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 2","pages":"83-103"},"PeriodicalIF":42.7,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10308551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Unequal global implementation of genomic newborn screening","authors":"Ahmad N. Abou Tayoun","doi":"10.1038/s41576-023-00654-1","DOIUrl":"10.1038/s41576-023-00654-1","url":null,"abstract":"Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening. In this Comment, Ahmad Abou Tayoun advocates for studies inclusive of historically under-represented populations to ensure equitable global access to genomic newborn screening.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 12","pages":"801-802"},"PeriodicalIF":42.7,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10308545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Transposable elements: McClintock’s legacy revisited","authors":"Cédric Feschotte","doi":"10.1038/s41576-023-00652-3","DOIUrl":"10.1038/s41576-023-00652-3","url":null,"abstract":"In 1983, Barbara McClintock was awarded the Nobel Prize in Physiology or Medicine for her discovery of transposable elements. This discovery was rooted in meticulous work on maize mutants that she had carried out 40 years earlier. Over this time frame, our perception of transposable elements has undergone important paradigm shifts, with profound implications for our understanding of genome function and evolution. In commemoration of this milestone, I revisit the legacy of this iconic scientist through the kaleidoscopic history of genetics and reflect on her achievements and the hurdles she faced in her career. Commemorating the 40th anniversary of Barbara McClintock’s Nobel Prize in Physiology or Medicine for her discovery of transposable elements, Cédric Feschotte reflects on McClintock’s life and legacy and how her work has shaped and defined the field of genetics.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 11","pages":"797-800"},"PeriodicalIF":42.7,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10314085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Illuminating the human yolk sac through single-cell omics","authors":"Kirsty Minton","doi":"10.1038/s41576-023-00658-x","DOIUrl":"10.1038/s41576-023-00658-x","url":null,"abstract":"A paper in Science reports a time-resolved multiomic atlas of the human yolk sac, expanding knowledge of this poorly resolved structure in humans.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 11","pages":"735-735"},"PeriodicalIF":42.7,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10262162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rosalind M. John, Matthew J. Higgs, Anthony R. Isles
{"title":"Imprinted genes and the manipulation of parenting in mammals","authors":"Rosalind M. John, Matthew J. Higgs, Anthony R. Isles","doi":"10.1038/s41576-023-00644-3","DOIUrl":"10.1038/s41576-023-00644-3","url":null,"abstract":"Genomic imprinting refers to the parent-of-origin expression of genes, which originates from epigenetic events in the mammalian germ line. The evolution of imprinting may reflect a conflict over resource allocation early in life, with silencing of paternal genes in offspring soliciting increased maternal provision and silencing of maternal genes limiting demands on the mother. Parental caregiving has been identified as an area of potential conflict, with several imprinted genes serendipitously found to directly influence the quality of maternal care. Recent systems biology approaches, based on single-cell RNA sequencing data, support a more deliberate relationship, which is reinforced by the finding that imprinted genes expressed in the offspring influence the quality of maternal caregiving. These bidirectional, reiterative relationships between parents and their offspring are critical both for short-term survival and for lifelong wellbeing, with clear implications for human health. Genomic imprinting — the monoallelic expression of genes based on their parent of origin — may have evolved due to an intragenomic conflict between maternal and paternal genomes within an individual, with differential interests regarding the level of parental caregiving. Here, the authors review the influence of genomic imprinting on parenting behaviour in mammals, with a focus on studies in mice.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 11","pages":"783-796"},"PeriodicalIF":42.7,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10262164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"RNA modifications in physiology and disease: towards clinical applications","authors":"Sylvain Delaunay, Mark Helm, Michaela Frye","doi":"10.1038/s41576-023-00645-2","DOIUrl":"10.1038/s41576-023-00645-2","url":null,"abstract":"The ability of chemical modifications of single nucleotides to alter the electrostatic charge, hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of stable artificial RNAs such as mRNA vaccines and synthetic small RNA molecules — to increase or decrease the expression of therapeutic proteins. Furthermore, naturally occurring biochemical modifications of nucleotides regulate RNA metabolism and function to modulate crucial cellular processes. Studies showing the mechanisms by which RNA modifications regulate basic cell functions in higher organisms have led to greater understanding of how aberrant RNA modification profiles can cause disease in humans. Together, these basic science discoveries have unravelled the molecular and cellular functions of RNA modifications, have provided new prospects for therapeutic manipulation and have led to a range of innovative clinical approaches. Native nucleotide modifications regulate RNA function and metabolism, the study of which has revealed disease mechanisms, offers therapeutic potential and enables innovative clinical strategies. Chemical modifications in RNA are harnessed for clinical use in stable artificial RNAs such as mRNA vaccines and synthetic small RNA molecules.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 2","pages":"104-122"},"PeriodicalIF":42.7,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10317056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}