Evolution of Dosage-Sensitive Genes by Tissue-Restricted Expression Changes.

ABSTRACT: Dosage-sensitive genes have characteristic patterns of evolution that include being refractory to small-scale duplication, depleted on human benign copy number variants (CNVs) and enriched on pathogenic CNVs. This intolerance to copy number change is likely due to an expression constraint that exists in one or more tissues. While genomic copy number changes alter the encompassed genes' expression across all tissues, expression quantitative trait loci (eQTLs)-genomic regions harboring sequence variants that influence the expression level of one or more genes-can act in a tissue-specific manner. In this work, we examine expression variation of presumed dosage-sensitive and nondosage-sensitive genes to discover how the locus duplicability constraints translate into gene expression constraints

SUBMITTER: Rice AM 

PROVIDER: S-EPMC12321322 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature