Trends in Genetics ( IF 11.4 ) Pub Date : 2020-10-20 , DOI: 10.1016/j.tig.2020.09.017 Anna J Moyer 1 , Katheleen Gardiner 2 , Roger H Reeves 1
Human chromosome 21 (Hsa21) contains more than 500 genes, making trisomy 21 one of the most complex genetic perturbations compatible with life. The ultimate goal of Down syndrome (DS) research is to design therapies that improve quality of life for individuals with DS by understanding which subsets of Hsa21 genes contribute to DS-associated phenotypes throughout the lifetime. However, the complexity of DS pathogenesis has made developing appropriate animal models an ongoing challenge. Here, we examine lessons learned from a variety of model systems, including yeast, nematode, fruit fly, and zebrafish, and discuss emerging methods for creating murine models that better reflect the genetic basis of trisomy 21.
中文翻译:
所有大大小小的生物:了解唐氏综合症遗传学的新方法
人类 21 号染色体 (Hsa21) 包含 500 多个基因,使 21 三体成为与生命相容的最复杂的遗传扰动之一。唐氏综合症 (DS) 研究的最终目标是通过了解哪些 Hsa21 基因子集在一生中导致 DS 相关表型,从而设计出改善 DS 患者生活质量的疗法。然而,DS 发病机制的复杂性使得开发合适的动物模型成为一项持续的挑战。在这里,我们研究从各种模型系统,包括酵母,线虫的经验教训,果蝇,斑马鱼,并讨论建立小鼠模型,更好地反映21三体综合征的遗传基础的新兴方法。