Genetics, Gene Therapy & Genetic Disease
HR repair pathway plays a crucial role in maintaining neural stem cell fate under irradiation stressMRN complex and the HR repair pathway play a crucial role in the maintenance of neural stem cell fate under irradiation stress.
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and diseaseZ-DNABERT uses the transformer algorithm to map genomic Z-DNA. We validate the approach using chemical footprinting data from live cells. We show the utility of the approach by mapping the Z-flipons discovered to Mendelian disease variants and various quantitative traits.
Rapid and precise genotyping of transgene zygosity in mice using an allele-specific methodA novel, precise, rapid, and generalizable method to determine transgene zygosity in mice by allele-specific restriction enzyme digestion of PCR products from transgenes or homologous endogenous genes.
Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cellsThis study shows that Prpf8 mutations associated with human retinal degeneration in mice alter circRNA expression in cerebellar granule cells and induce their apoptosis.
The role of Limch1 alternative splicing in skeletal muscle functionThis works identifies a novel, alternatively spliced isoform of LIMCH1, that is, developmentally regulated and specific to skeletal muscle. Knocking out the six skeletal muscle–specific exons of LIMCH1 leads to impaired skeletal muscle function in vivo and ex vivo.
A protocol for single nucleus RNA-seq from frozen skeletal muscleThe authors detail a method to isolate nuclei for single nucleus RNA sequencing from frozen, biobanked human skeletal muscle samples.
Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseasescbNIPT by WGS and haplotype analysis predict the inherited genotypes for families with monogenic diseases and provide a potentially better solution for prenatal diagnosis of monogenic diseases.
A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3)This VNTR has a heterozygosity value of 0.93, forms G-tetrads, and is in low linkage disequilibrium with surrounding sequence, making it a new site for genetic analysis.
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceThis study adds insights into FTSJ1 tRNA 2′-O-methylation–associated pathologies in humans and Drosophila by identification of novel FTSJ1 targets and neuron morphology defects.
Meiotic DNA exchanges in C. elegans are promoted by proximity to the synaptonemal complexExchanges between DNA molecules during meiosis are tightly controlled. This work shows that the synaptonemal complex is instrumental in regulating meiotic exchanges both between the parental chromosomes and between the sister chromatids.