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

被引：4

作者：

Brue, Thierry ^{[1
,2
]}

Camper, Sally A. ^{[3
]}

机构：

[1] Hop Conception, Assistance Publ Hop Marseille AP HM, Dept Endocrinol, Ctr Reference Malad Rares Lhypophyse HYPO, Marseille, France

[2] Aix Marseille Univ, Inst Natl Sante & Rech Med INSERM, Inst Marseille Malad Rares MarMaRa, Marseille Med Genet MMG,U1251, Marseille, France

[3] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

EUROPEAN JOURNAL OF ENDOCRINOLOGY | 2021年 / 185卷 / 06期

基金：

美国国家卫生研究院;

关键词：

PIT-1; GENE; MUTATION; POU1F1; HOMEODOMAIN; ENHANCER; DOMAIN;

D O I：

10.1530/EJE-21-0949

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：C19 / C25

页数：7

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