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Chromothripsis, a chromosomal shattering event, can be elicited by micronuclei and chromosome bridges formed by CRISPR–Cas9-generated double-stranded breaks. Extensive chromosomal rearrangements may thus be an on-target effect of genome editing.
Whole-genome resequencing of 445 Lactuca accessions, including major lettuce crop types and wild relative species, provides a comprehensive map of lettuce genome variations and sheds light on the domestication history of cultivated lettuce.
MPHOSPH8 loss inhibits acute myeloid leukemia (AML) development by reactivating LINE-1 retrotransposons. LINE-1 suppression is associated with therapy resistance and poor prognosis in patients with AML.
Single-cell transcriptome profiling of human embryonic sympathoadrenal tissues identifies developmental transitions and suggests that intra-adrenal sympathoblasts arising from Schwann cell precursors are a potential neuroblastoma cell of origin.
H2AK119ub1 and H3K27me3 have different genome-wide dynamics in mouse preimplantation embryos. Loss of H2AK119ub1, but not H3K27me3, causes premature activation of developmental genes during zygotic genome activation.
A multivariate genome-wide association study highlighting loci that influence both face and brain shape suggesting shared developmental axes during early embryogenesis. These loci did not overlap with those governing behavioral–cognitive traits or neuropsychiatric risk indicating divergence between early brain development and cognitive function.
In early mouse embryos, PRC1-mediated H2AK119ub1 deposition precedes H3K27me3. Deficiency in variant PRC1 reduces H2AK119ub1 and leads to gene-selective loss of H3K27me3 in oocytes, which is inherited by embryos.
Extremely conserved 5′ UTRs act as cis-regulatory elements, playing an unsuspected role in translation regulation. A new in-cell mutational method, icM2, shows that these 5′ UTRs adopt alternative structures that depend on RNA helicase activity.
Chromatin conformation is largely independent of dorsoventral gene expression during early embryonic development in Drosophila. Despite tissue-specific differences in chromatin state and gene expression, three-dimensional chromatin organization is maintained across tissues.
Single-cell ATAC-seq analysis of human pancreatic islet cells identifies different cell clusters and transcription factors that underlie lineage- and state-specific regulation and helps prioritize type 2 diabetes risk variants.
Single-cell analysis of Drosophila development with Hi-M suggests that physical proximity between regulatory regions does not necessarily instruct transcriptional states. Multi-way analyses identify the existence of regulatory hubs that emerge before topologically associating domains.
Mutagenesis of 23 ultraconserved enhancers and examination of their activities in transgenic mouse reporter assays show that overall their regulatory properties are robust to mutation. Manipulation of endogenous loci in mice corroborates reporter assay data.
Individuals with SYK gain-of-function variants develop immunodeficiency and systemic inflammation, which are recapitulated in a knock-in mouse model. Treatment of these mice with bone marrow transplantation or with a SYK inhibitor ameliorates disease symptoms, highlighting potential therapeutic strategies for patients with SYK mutations.
A single-cell transcriptomic analysis of neuroblastomas and healthy adrenal glands defines cell types and lineage trajectories during different developmental stages. Comparisons with the transcriptomes of neuroblastoma cells show that their transcriptomes most closely resemble those of developing neuroblasts of the adrenal gland.
A pediatric cancer dependency map generated with genome-scale CRISPR–Cas9 loss-of-function screens in 82 pediatric cancer cell lines highlights genetic dependencies across a range of tumor types.
A high-quality genome assembly of Weining rye sheds new light on gene duplications and their effects on starch biosynthesis genes, gene expression features underlying early heading trait and putative domestication-associated chromosomal regions.
A chromosome-scale genome assembly of rye inbred line ‘Lo7’ provides insights into its incomplete genetic isolation from wild relatives, mechanisms of genome structural evolution and the yield benefits of rye–wheat introgressions.
Human–chimpanzee tetraploid fusions serve as a model to study gene expression differences between these species, allowing for separation of cis- from trans-regulatory effects and analysis of unique craniofacial morphologies.
Genome-wide CRISPR screens for proviral host factors of SARS-CoV-2 and HCoV-229E human coronaviruses show that the lysosomal protein TMEM106B is required for SARS-CoV-2 infection.
Identification of the genetic differences between two different disorders has been hampered by a need for individual-level data from cases of both disorders. CC-GWAS enables the comparison of allele frequencies among cases of two disorders using case–control GWAS summary statistics.