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Nature Reviews Genetics Profile picture
@NatureRevGenet
Feb 6, 2023 • 4 tweets • 3 min read • Read on X
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution go.nature.com/3JLDI2I #Review by @Lab_Pollen, @KlkUmut, Craig B. Lowe & @GrayCampLab
@UCSF @UniBasel_en @DukeU
In this Review, the authors discuss our latest understanding of evolutionary genetic changes that are specific to humans, which might endow uniquely human traits and capabilities Image
They describe how new cellular and molecular approaches are helping to decipher the functional implications of these human-specific changes Image
Free to read here: rdcu.be/c4Pno

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Nature Reviews Genetics Profile picture
Apr 18, 2023
Primary cilia as dynamic and diverse signalling hubs in development and disease go.nature.com/3GXbr6T #Review by @Mill_lab, @t_soren & @LottePedersen12
Primary cilia are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting primary cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Image
Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group Image
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Lineage tracing meets single-cell omics: opportunities and challenges go.nature.com/2UPu2cl Our 2020 #Review by @danwagnerlab and @KleinLabHMS
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Apr 25, 2022
Organization and expression of the mammalian mitochondrial genome go.nature.com/3MqLEV0 #Review by @TheRackhamLab & @FilipovskaLab
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Jan 10, 2022
From systems to structure — using genetic data to model protein structures go.nature.com/3ncLCWC #Review by @HannesBraberg, @ig_ech, @rmkaake, @salilab_ucsf & @KroganLab
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Recent technologies use large-scale genetic and evolutionary datasets to model the structures of proteins and their complexes
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Nature Reviews Genetics Profile picture
Jun 24, 2020
Measuring and interpreting transposable element expression go.nature.com/3epDxrb #Review by @sophie_lanciano and @retrogenomics @ircaninstitute @uca_research @inserm @INSB_CNRS
Computational tools to analyse RNA-seq data often discard reads derived from transposable elements (TE) but measuring TE expression helps to understand when and where TE mobilization occurs and how it alters gene expression, chromatin accessibility or cellular signalling pathways
Measuring TE expression is not straightforward; not only are TEs highly repeated in their host genome but insertional polymorphisms (presence/absence) and internal sequence polymorphisms between individuals complicate their identification
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Jan 28, 2020
#Free for 1 month: Towards a comprehensive catalogue of validated and target-linked human enhancers go.nature.com/2O6ezSC #Review by @MollyGasp, Jacob Tome & @JShendure
This Review discusses the evolving definitions of transcriptional enhancers and the modern experimental tools to identify, characterize and validate them.
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