Molecular Structure and Functional Genomics Section, National Eye Institute, NIH, Bethesda, MD 20892.
Retinal Neurophysiology Section, National Eye Institute, NIH, Bethesda, MD 20892.
Proc Natl Acad Sci U S A. 2017 May 23;114(21):E4271-E4280. doi: 10.1073/pnas.1619442114. Epub 2017 May 8.
The polycistronic miR-183/96/182 cluster is preferentially and abundantly expressed in terminally differentiating sensory epithelia. To clarify its roles in the terminal differentiation of sensory receptors in vivo, we deleted the entire gene cluster in mouse germline through homologous recombination. The miR-183/96/182 null mice display impairment of the visual, auditory, vestibular, and olfactory systems, attributable to profound defects in sensory receptor terminal differentiation. Maturation of sensory receptor precursors is delayed, and they never attain a fully differentiated state. In the retina, delay in up-regulation of key photoreceptor genes underlies delayed outer segment elongation and possibly mispositioning of cone nuclei in the retina. Incomplete maturation of photoreceptors is followed shortly afterward by early-onset degeneration. Cell biologic and transcriptome analyses implicate dysregulation of ciliogenesis, nuclear translocation, and an epigenetic mechanism that may control timing of terminal differentiation in developing photoreceptors. In both the organ of Corti and the vestibular organ, impaired terminal differentiation manifests as immature stereocilia and kinocilia on the apical surface of hair cells. Our study thus establishes a dedicated role of the miR-183/96/182 cluster in driving the terminal differentiation of multiple sensory receptor cells.
多顺反子 miR-183/96/182 簇在终末分化的感觉上皮细胞中优先且丰富地表达。为了阐明其在体内感觉受体终末分化中的作用,我们通过同源重组在小鼠生殖系中删除了整个基因簇。miR-183/96/182 缺失小鼠表现出视觉、听觉、前庭和嗅觉系统的损伤,这归因于感觉受体终末分化的严重缺陷。感觉受体前体的成熟被延迟,它们从未达到完全分化的状态。在视网膜中,关键光感受器基因的上调延迟导致外节伸长延迟,并可能导致视锥细胞核在视网膜中的错位。光感受器的不完全成熟随后很快就会导致早期退行性变。细胞生物学和转录组分析表明,纤毛发生、核易位和表观遗传机制的失调可能控制着发育中的光感受器终末分化的时间。在耳蜗和前庭器官中,终末分化的损伤表现为毛细胞顶表面不成熟的静纤毛和动纤毛。因此,我们的研究确立了 miR-183/96/182 簇在驱动多种感觉受体细胞终末分化中的特定作用。