Human-specific genetics: new tools to explore the molecular and ...
网页2023年2月3日 · Human-specific gene duplications, in particular, have recently been linked to human traits through overexpression of these genes and detailed reconstruction in animal...
Human-Specific Genes May Offer a Unique Window into Human …
网页2009年9月22日 · We posit that human-specific genes offer an opportunity to understand the evolution of signaling pathways in humans and to identify human-specific biomarkers that may open windows into human disease. From sequencing a range of mammalian genomes, it has been posited that most human genes have orthologs in the genomes of nonprimates ( 1 ).
Effective gene expression prediction from sequence by
网页2021年10月4日 · Here, we report substantially improved gene expression prediction accuracy from DNA sequences through the use of a deep learning architecture, called Enformer, that is able to integrate ...
Mechanisms of tissue and cell-type specificity in heritable ... - Nature
网页2020年1月8日 · Tissue-specific pathogenesis might stem from the involvement of causal genes and risk alleles in pathways and gene modules that are specific to susceptible tissues.
Evolution and cell-type specificity of human-specific genes ... - eLife
网页2018年3月21日 · We show that 15 human-specific genes exhibit such expression, and many of them evolved distinct neural progenitor cell-type expression profiles and levels compared to their ancestral paralogs. Functional studies on one such gene, NOTCH2NL, demonstrate its ability to promote basal progenitor proliferation in mice. An additional 35 human genes ...
Cell type–specific genetic regulation of gene expression ... - Science
网页2020年9月11日 · By characterizing the cellular context, this study illustrates how genetic variants that operate in a cell type–specific manner affect gene regulation and can be linked to complex traits. This deconvolution and analysis of cell types from bulk tissues allows greater precision in understanding how phenotypes are linked to genetic variation.
Genes with human-specific features are primarily involved with …
网页2019年11月22日 · These articles report human-specific genetic features, i.e. gene-related molecular characteristics that have been reported to differ between humans and other species and are likely to impact the associated gene (such as changes to the sequence of a gene promoter, exon losses, gene duplications, etc).
Understanding Tissue-Specific Gene Regulation - Cell Press
网页2017年10月24日 · We identified tissue-specific genes, transcription factors, and regulatory network edges, and we analyzed their properties within and across these networks.
Dynamic landscape of immune cell-specific gene regulation in …
网页The gene-regulation atlas of 28 immune cell types was constructed with immune-mediated disease patient samples and shows the dynamics of gene regulation depending on cell types and immunological conditions.
Transforming our understanding of species-specific gene regulation
网页2024年4月10日 · Specifically, using DNA derived from a single human (H) and rhesus macaque (M) lymphoblastoid cell line to generate species-specific ATAC-STARR-seq libraries, they transfected each back into its “native state” cell line (H H and M M) and compared activity of the top 10,000 most active regions.