Marek's Disease (MD), which can result in neurological damage and tumour formation, has large effects on the economy and animal welfare of the poultry industry worldwide. Previously, we mapped autosomal MD QTL regions (QTLRs) by individual genotyping of an F population from a full-sib advanced intercross line. We further mapped MD QTLRs on the chicken Z chromosome (GGZ) using the same F population, and by selective DNA pooling (SDP) of 8 elite egg production lines.
View Article and Find Full Text PDFInversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.
View Article and Find Full Text PDFA single guide RNA (sgRNA) directs Cas9 nuclease for gene-specific scission of double-stranded DNA. High Cas9 activity is essential for efficient gene editing to generate gene deletions and gene replacements by homologous recombination. However, cleavage efficiency is below 50% for more than half of randomly selected sgRNA sequences in human cell culture screens or model organisms.
View Article and Find Full Text PDFJ Clin Child Adolesc Psychol
October 2024
Objective: Self-regulation abilities in childhood are predictive of a range of challenges later in life, making it important to identify difficulties in this area as early as possible. Autistic children and those with attention-deficit/hyperactivity disorder (ADHD) often have difficulties with self-regulation, but little is known about the similarities and differences in such abilities across neurodevelopmental conditions.
Method: We examined self-regulation using a delay of gratification task in 36-month-old autistic children ( = 20), those showing clinically relevant concerns for ADHD (i.
ELAV/Hu RNA-binding proteins are gene-specific regulators of alternative pre-mRNA processing. ELAV/Hu family proteins bind to short AU-rich motifs which are abundant in pre-mRNA, making it unclear how they achieve gene specificity. ELAV/Hu proteins multimerize, but how multimerization contributes to decode degenerate sequence environments remains uncertain.
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