ESPEYB19 3. Thyroid New genes (2 abstracts)
3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis
Yang RM , Zhan M , Zhou QY , Ye XP , Wu FY , Dong M , Sun F , Fang Y , Zhang RJ , Zhang CR , Yang L , Guo MM , Zhang JX , Liang J , Cheng F , Liu W , Han B , Zhou Y , Zhao SX & Song HD
Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003
Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These data suggest GBP1 as a new candidate gene for thyroid dysgenesis.
Pathologic structural differentiation of the thyroid gland results in thyroid dysgenesis and congenital hypothyroidism. Using exome sequencing, the authors identified mutations in GBP1 in 3 of 98 patients with congenital hypothyroidism. Then, the authors performed extensive developmental studies to investigate the functional mechanisms of the identified GBP1 mutations in the zebrafish model. They revealed disordered thyroid gland morphogenesis characterized by reduced thyroid surface and reduced follicle number. They further showed that wild-type GBP1 was able to rescue the pathologic thyroid phenotype. Finally, they showed that GBP1 has a role in inhibiting cell adhesion during thyroid morphogenesis thus promoting follicle formation.
This interesting paper proposes a new candidate gene for thyroid dysgenesis and confirms that tightly coordinated cell-adhesion processes are fundamental for normal thyroid morphogenesis [1,2].
References: 1. Development of the thyroid gland. Nilsson M, Fagman H. Development. 2017 Jun 15;144(12):2123–2140. doi: 10.1242/dev.145615. PMID: 28634271. 2. Asynchrony of Apical Polarization, Luminogenesis, and Functional Differentiation in the Developing Thyroid Gland. Johansson E, Liang S, Moccia C, Carlsson T, Andersson D, Fagman H, Nilsson M. Front Endocrinol (Lausanne). 2021 Dec 17;12:760541. doi: 10.3389/fendo.2021.760541. eCollection 2021. PMID: 34975747.
Volume 19
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more