{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nEmerging evidence from in vivo studies of splicing factors indicates that proper spliceosome function is essential for retinal maintenance and normal embryonic development. In particular, the spliceosome‐associated protein CWC27 operates within the Bact complex—interacting with CWC22 to facilitate the recruitment of core exon junction components—and its disruption is linked to aberrant splicing events in retinal tissue. Such transcriptomic defects are evident in mouse models where mutations in CWC27 result in retinal degeneration accompanied by developmental abnormalities."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nWithin this regulatory network, microRNAs are well recognized as key post‐transcriptional modulators. Although the specific mechanistic role of MIR6724-3 is not directly elaborated in these reports, by analogy its function could be to fine-tune the expression of critical spliceosomal components and stress response mediators. Such activity would be pivotal in contexts where alternative splice site usage and intron retention—as observed in the CWC27 mutant retinas—trigger endoplasmic reticulum stress and subsequent pathological cascades. In this model, MIR6724-3 may help buffer the effects of splicing dysregulation, ensuring that transcript diversity is maintained within functional thresholds.\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, studies investigating the paralogue RAD9B underscore the importance of coordinated gene expression in preserving genomic integrity and proper developmental signaling. The deleterious impact of RAD9B deficiency—ranging from compromised DNA damage resistance to neural tube defects—suggests that multiple layers of regulation, potentially including microRNA-mediated modulation, are required to integrate cell cycle checkpoints with splicing regulation. Accordingly, MIR6724-3 may serve as an additional layer of control, linking splicing fidelity and DNA repair processes to support robust embryogenesis and retinal function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2017.02.008"}], "href": "https://doi.org/10.1016/j.ajhg.2017.02.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28285769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28285769"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Renae Elaine Bertrand, Jun Wang, Yumei Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddab319"}], "href": "https://doi.org/10.1093/hmg/ddab319"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34726245"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34726245"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Corinne Leloup, Kevin M Hopkins, Xiangyuan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mouse Rad9b is essential for embryonic development and promotes resistance to DNA damage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Dyn (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/dvdy.22415"}], "href": "https://doi.org/10.1002/dvdy.22415"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20842695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20842695"}]}]}]}