Gene of the month:GLIS1-3

被引：13

作者：

Pinto, Karen ^{[1
]}

Chetty, Runjan ^{[2
]}

机构：

[1] Kuwait Canc Control Ctr, Pathol, Shuwaikh, Al Asimah, Kuwait

[2] Brighton & Sussex Univ Hosp NHS Trust, Dept Histopathol, Brighton, E Sussex, England

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2020年 / 73卷 / 09期

关键词：

chromosomes; genes; neoplasm; genetics; ZINC-FINGER PROTEIN; GLIS1; NEPHRONOPHTHISIS; DISEASE;

D O I：

10.1136/jclinpath-2020-206859

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

TheGLIS 1-3genes belong to a family of transcription factors, the Kruppel-like zinc finger proteins. The GLIS proteins function primarily as activators of transcription (GLIS 1 and 3), while GLIS 2 functions as a repressor. Collectively, the GLIS proteins are involved in a variety of diseases in several organs ranging from Alzheimer's disease, facial dysmorphism, neonatal diabetes mellitus, breast and colon cancers and leukaemia. In particular, loss-of-function mutations inGLIS2are responsible for an autosomal recessive cystic kidney disease called nephronophthisis, which is characterised by tubular atrophy, interstitial fibrosis and corticomedullary cysts. Of diagnostic value in current practice are the presence ofGLIS 3and1fusions withPAX8in almost 100% of hyalinising trabecular tumours of the thyroid gland. This enables its separation from papillary thyroid cancer.

引用

页码：527 / 530

页数：4

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