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Am J Hum Genet ; 111(8): 1524-1543, 2024 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-39053458

RESUMEN

Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited understanding of its wider prevalence and mechanisms in humans. To address this, we analyzed gene misexpression in 4,568 whole-blood bulk RNA sequencing samples from INTERVAL study blood donors. We found that while individual misexpression events occur rarely, in aggregate they were found in almost all samples and a third of inactive protein-coding genes. Using 2,821 paired whole-genome and RNA sequencing samples, we identified that misexpression events are enriched in cis for rare structural variants. We established putative mechanisms through which a subset of SVs lead to gene misexpression, including transcriptional readthrough, transcript fusions, and gene inversion. Overall, we develop misexpression as a type of transcriptomic outlier analysis and extend our understanding of the variety of mechanisms by which genetic variants can influence gene expression.


Asunto(s)
Regulación de la Expresión Génica , Humanos , Análisis de Secuencia de ARN , Variación Genética , Variación Estructural del Genoma/genética , Transcriptoma/genética , Donantes de Sangre
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