Article

Altered RNA-processing provides a mechanistic framework delineating human sex-reversal associated with pathogenic variants in the RNA-helicase DHX37

2025-01-13

Abstract excerpt

Recurrent heterozygous missense variants in the highly conserved RNA-helicase DHX37, which is required for ribosome biogenesis, are a frequent cause of 46,XY sex-reversal or testis regression syndrome. How these missense variants specifically disrupt testis formation is unknown. Here, we demonstrate that mutant DHX37 proteins retain their ATPase activity and are not associated with stabilization of cellular β-cat...

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Identifiers and source

Literature Corpus work: f842c695-410c-5d78-a8de-e4c8e14ac318
DOI: 10.1101/2025.01.10.632330

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