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Nature Reviews Genetics


Genome organization: In the beginning there was order


During the early stages of embryonic development, the zygotic genome acquires a unique chromatin configuration that ensures the adequate expression of the embryonic developmental programme. How and when the zygotic genome adopts its singular chromatin architecture is the focus of two studies published in Nature

Technique: A mosaic of enhancer function in single cells


With more than 2 million predicted enhancers interacting in unique genetic and epigenetic contexts, genome-wide functional assessment of these regulatory elements has lagged behind identification. To overcome this issue, a study in Molecular Cell reports the development of Mosaic-seq — short for mosaic single-cell

Mutations: Dawn of the Human Knockout Project


Genetic knockout model organisms have traditionally provided the bedrock for understanding the role of genes within the context of a living organism. A new study published in Nature uses reverse genetics to identify and characterize hundreds of human knockout mutations.Populations with a high

Evolutionary genetics: Fantastic beasts — cephalopod RNA recoding


Post-transcriptional modifications, such as mRNA editing, have the potential to diversify the proteome. Most animals do not show much mRNA editing that results in a codon change (recoding). However, squid (a member of the cephalopod taxa) were recently shown to have high levels of recoding,

Genetics of coronary artery disease: discovery, biology and clinical translation


Coronary artery disease is the leading global cause of mortality. Long recognized to be heritable, recent advances have started to unravel the genetic architecture of the disease. Common variant association studies have linked approximately 60 genetic loci to coronary risk. Large-scale gene sequencing efforts and

Scaling by shrinking: empowering single-cell 'omics' with microfluidic devices


Recent advances in cellular profiling have demonstrated substantial heterogeneity in the behaviour of cells once deemed 'identical', challenging fundamental notions of cell 'type' and 'state'. Not surprisingly, these findings have elicited substantial interest in deeply characterizing the diversity, interrelationships and plasticity among cellular phenotypes. To

Autism genetics: opportunities and challenges for clinical translation


Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable

The X chromosome in space


Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements