Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform
Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi: 10.1530/EJE-21-0949. Online ahead of print.ABSTRACTRecent 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 the routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.PMID:34597272 | DOI:10.1530/EJE-21-0949
Source: European Journal of Endocrinology - Category: Endocrinology Authors: Thierry Brue Sally Camper Source Type: research