Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA; Department of Pathology, University of Michigan, Ann Arbor, MI, USA.
Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA.
Trends Mol Med. 2021 Apr;27(4):365-378. doi: 10.1016/j.molmed.2021.01.001. Epub 2021 Feb 8.
Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.
视网膜先天性畸形，如小眼球症、无眼症和视网膜裂孔（MAC），与编码表观遗传蛋白的基因突变有关，这些蛋白可改变染色质。我们综述了这些染色质修饰因子在视网膜发育中的新发现功能，并讨论了表观遗传学在人类和动物模型中 MAC 的作用。此外，我们强调了表观基因组学技术的进步如何为致盲疾病提供基础和再生医学相关的见解。将表观遗传学和多能干细胞（PSCs）的知识相结合是一个很有前途的途径，因为表观遗传因子与眼区转录因子（EFTFs）合作来指导 PSCs 的命运——这是先天性视网膜疾病建模和细胞治疗的基础。
Birth Defects Res C Embryo Today. 2015-6
Eur J Med Genet. 2014-8
Am J Med Genet C Semin Med Genet. 2020-9
Congenit Anom (Kyoto). 2019-5
J Fr Ophtalmol. 1997
Proc Natl Acad Sci U S A. 2020-12-29
Zotero 插件