Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform - Aix-Marseille Université Access content directly
Journal Articles European Journal of Endocrinology Year : 2021

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform

Abstract

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1 , altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.

Dates and versions

hal-03660858 , version 1 (06-05-2022)

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Thierry Brue, Sally Camper. Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform. European Journal of Endocrinology, 2021, 185 (6), pp.C19-C25. ⟨10.1530/EJE-21-0949⟩. ⟨hal-03660858⟩
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