新型垂体激素缺乏症机制：遗传变异导致剪接，产生显性负转录因子同工型。
Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.
机构信息
Assistance Publique-Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l'hypophyse HYPO, Marseille, France.
Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Marseille, France.
出版信息
Eur J Endocrinol. 2021 Nov 26;185(6):C19-C25. doi: 10.1530/EJE-21-0949.
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.
最近的研究表明，与 POU1F1 突变相关的联合垂体激素缺乏有一个新的机制，改变了选择性剪接的平衡，导致 POU1F1 的β同工型过度表达。这些研究强调了生物学家在这种情况下进行常规分子诊断时，需要研究 POU1F1 以及其他基因的选择性剪接。
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