We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some...
experimentally defined boundary regions, including from ChIP-seq data for other structural DNA-binding proteins and chromosome conformation capture experiments (see below). LSD scans these regulatory landscapes using a 150 bp sliding window, in 50 bp steps. This process returns a pool of putative...
study of AD onset convincingly demonstrated that transcription factor (TF) PU.1 encoded bySPI1is a key regulator for the development and function of myeloid cells and lowerSPI1expression delays the onset of AD by regulating gene expression in myeloid cells [43]. However, genetic covariance of A...
Functional variants in promoters have also been identified that are associated with disease. These include the extreme situation in which a gain-of-function regulatory SNV created a new promoter-like element that recruits GATA1 and interferes with expression of downstream α-globin-like genes, resultin...
In particular, we focus on cases of unequal redundancy, where the absence of a mutant phenotype in loss-of-function mutants of one gene contrasts with a strong phenotype in mutants of its homolog. In the double mutants, this phenotype is strongly enhanced. Possible explanations for such ...
Small effective population sizes due to historical bottleneck events could expose endangered species to inbreeding and loss of genetic variation [15]. Historical climatological events and geophysical barriers can alter range shifts, determine dispersal patterns and restrict gene flow, leading to significant...
loss of crucial X-linked genes, such as the Short-stature homeobox(SHOX) gene [18]. Normal ovarian function hinges on the presence of two copies of X-linked genes; the loss of one copy manifests as TS-related phenotypes. Recent research has additionally implicated telomere function, length,...
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387–389 (2009). Article ADS CAS PubMed PubMed Central Google Scholar Emdin, C. A. et al. Analysis of predicted loss-of-function variants in UK Biobank identifies variants ...
For each gene, pLI (probability of loss-of-function intolerance) was obtained from Lek et al. 2016 Nature and shet (selection against protein-truncating variants) was obtained from Cassa et al. 2017 Nature Genetics. Extended Data Fig. 6 \(h_{med}^{2}\) enrichment estimates for all 10 ...
R26RDTA/+mice essentially stops formation of differentiated muscle by E12.5, but these mice also have a loss ofMyf5-expressing progenitors, showing that virtually all myogenic progenitors also transition though aMyoD-expressing phase[59]. Thus, it seems likely that the vast majority of myogenic pro...