A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.

Franziska WitteJorge Ruiz-OreraCamilla Ciolli MattioliSusanne BlachutEleonora AdamiJana Felicitas SchulzValentin Schneider-LunitzOliver HummelGiannino PatoneMichael Benedikt MückeJan ŠilhavýMatthias HeinigLeonardo BottoloDaniel SanchisMartin VingronMarina ChekulaevaMichal PravenecNorbert HubnerSebastiaan van Heesch

Published in: Genome biology (2021)

We show that distant genetic control of mRNA translation is abundant in mammalian tissues, exemplified by a single genomic locus that triggers a translation-driven molecular mechanism. Our work illustrates the complexity through which genetic variation can drive phenotypic variability between individuals and thereby contribute to complex disease.

Keyphrases

binding protein
copy number
gene expression
lymph node
genome wide association study
dna methylation
amino acid