Yoshida Saishu, Yoshida Kiyotsugu
Department of Biochemistry, The Jikei University School of Medicine, Minato-ku, Tokyo 105 8461, Japan.
Genes Dis. 2022 Jan 6;10(3):758-770. doi: 10.1016/j.gendis.2021.12.004. eCollection 2023 May.
The dual-specificity tyrosine-regulated kinase (DYRK) family is evolutionarily conserved from invertebrate to mammals. DYRKs regulate cell proliferation, apoptosis, survival, and differentiation by modifying the protein activation state, cellular localization, and turnover. In contrast to several studies in cellular models, the available evidence regarding the roles of DYRKs in mammalian development is limited. This review summarizes the studies on which provide insight into their roles in mammalian tissue development and congenital diseases. evidence obtained using knockout and genetically modified animals helps to understand and develop novel clinical therapies and drug for human congenital diseases, such as Down syndrome and neuronal disorders (associated with DYRK1A) and skeletal ciliopathies (associated with DYRK2).
双特异性酪氨酸调节激酶（DYRK）家族在从无脊椎动物到哺乳动物的进化过程中高度保守。DYRKs通过改变蛋白质的激活状态、细胞定位和更新来调节细胞增殖、凋亡、存活和分化。与细胞模型中的多项研究不同，关于DYRKs在哺乳动物发育中的作用的现有证据有限。本综述总结了相关研究，这些研究有助于深入了解它们在哺乳动物组织发育和先天性疾病中的作用。使用基因敲除和基因改造动物获得的证据有助于理解和开发针对人类先天性疾病的新型临床疗法和药物，如唐氏综合征和神经疾病（与DYRK1A相关）以及骨骼纤毛病（与DYRK2相关）。
