AI Article Synopsis
- The GLIS protein family consists of transcription factors with GLIS 1 and 3 acting as activators while GLIS 2 serves as a repressor.
- These proteins are linked to various diseases, including Alzheimer's, different cancers, and a specific kidney disease called nephronophthisis due to loss-of-function mutations.
- In thyroid cancer diagnosis, the presence of certain gene fusions involving GLIS proteins helps distinguish hyalinising trabecular tumours from papillary thyroid cancer.
Article Abstract
The genes belong to a family of transcription factors, the Krüppel-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 in are 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 of and fusions with in almost 100% of hyalinising trabecular tumours of the thyroid gland. This enables its separation from papillary thyroid cancer.
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| http://dx.doi.org/10.1136/jclinpath-2020-206859 | DOI Listing |
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