{"title":"通过替代剪接塑造人类大脑的发育和脆弱性。","authors":"Francisco Aya, Juan Valcárcel","doi":"10.1016/j.xgen.2024.100584","DOIUrl":null,"url":null,"abstract":"<p><p>Alternative splicing contributes to shaping lineage-specific gene expression and phenotypes. In this issue of Cell Genomics, Recinos, Bao, Wang, et al.<sup>1</sup> report that the balance between splicing isoforms of the microtubule-associated protein Tau in the brain is differentially regulated among primates by the RNA-binding protein MBNL2, with consequences for protein aggregation and neurodegeneration in humans.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":"4 6","pages":"100584"},"PeriodicalIF":11.1000,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228946/pdf/","citationCount":"0","resultStr":"{\"title\":\"Shaping human brain development and vulnerability through alternative splicing.\",\"authors\":\"Francisco Aya, Juan Valcárcel\",\"doi\":\"10.1016/j.xgen.2024.100584\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Alternative splicing contributes to shaping lineage-specific gene expression and phenotypes. In this issue of Cell Genomics, Recinos, Bao, Wang, et al.<sup>1</sup> report that the balance between splicing isoforms of the microtubule-associated protein Tau in the brain is differentially regulated among primates by the RNA-binding protein MBNL2, with consequences for protein aggregation and neurodegeneration in humans.</p>\",\"PeriodicalId\":72539,\"journal\":{\"name\":\"Cell genomics\",\"volume\":\"4 6\",\"pages\":\"100584\"},\"PeriodicalIF\":11.1000,\"publicationDate\":\"2024-06-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228946/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cell genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.xgen.2024.100584\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cell genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xgen.2024.100584","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
替代剪接有助于形成特定品系的基因表达和表型。在本期《细胞基因组学》（Cell Genomics）杂志上，Recinos、Bao、Wang 等人1 报告说，大脑中微管相关蛋白 Tau 的剪接异构体之间的平衡在灵长类动物中受到 RNA 结合蛋白 MBNL2 的不同调控，从而对人类的蛋白聚集和神经退行性变产生影响。
Shaping human brain development and vulnerability through alternative splicing.
Alternative splicing contributes to shaping lineage-specific gene expression and phenotypes. In this issue of Cell Genomics, Recinos, Bao, Wang, et al.1 report that the balance between splicing isoforms of the microtubule-associated protein Tau in the brain is differentially regulated among primates by the RNA-binding protein MBNL2, with consequences for protein aggregation and neurodegeneration in humans.
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