Genetics, Gene Therapy & Genetic Disease
multicrispr: gRNA design for prime editing and parallel targeting of thousands of targetsA bioinformatics R package for a fast and generic guideRNA design, optimized for large-scale perturbation assays.
Biochemical and functional characterization of a meiosis-specific Pch2/ORC AAA+ assemblyThe AAA+ protein Pch2 forms a biochemical complex with Orc1/ORC to suppress DNA break formation in the meiotic G2/prophase.
DDX5 promotes oncogene C3 and FABP1 expressions and drives intestinal inflammation and tumorigenesisIn intestinal epithelial cells (IECs), DDX5 promotes the expression of immune response genes and oncogenes posttranscriptionally and is a novel therapeutic target for treating colitis and intestinal cancers.
Small molecule inhibitors and a kinase-dead expressing mouse model demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cellsThe study use small molecule inhibitors and a kinase-dead expressing mouse model to demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cells.
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levelsThe work highlights the link between dysfunction of the RNA exosome, ribosome biogenesis, p53-dependent signalling, and apoptosis. Pontocerebellar hypoplasia caused by mutations of the exosome subunits could be classified as a ribosomopathy.
CDKL3 promotes osteosarcoma progression by activating Akt/PKBThis study demonstrates that CDKL3 regulates Akt activation and its downstream targets to promote OS progression, creating a therapeutically targetable vulnerability in treatment of OS.
MagnEdit—interacting factors that recruit DNA-editing enzymes to single base targetsThis study reports a new, non-covalent strategy—called MagnEdit—that attracts the DNA cytosine deaminase APOBEC3B to a Cas9-directed site for C-to-T editing.
The iron–sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activationThe iron–sulfur cluster helicase DDX11 promotes the generation of ssDNA and the phosphorylation of CHK1 at serine-345, possibly by unwinding replication-dependent DNA secondary structures.
Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2This study reveals a role for the cohesin modifier ESCO2 for maintenance of sister chromatid cohesion in mammalian meiosis and a specific weakness of cohesion within male sex chromosome chromatin
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasisThis study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism