CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations

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• 作者：Urszula Brykczynska¹ ; Eline Pecho-Vrieseling¹ ; Anke Thiemeyer¹ ; Jessica Klein¹ ; Isabelle Fruh¹ ; Thierry Doll¹ ; Carole Manneville¹ ; Sascha Fuchs¹ ; Mariavittoria Iazeolla¹ ; Martin Beibel¹ ; Guglielmo Roma¹ ; Ulrike Naumann¹ ; Nicholas Kelley¹ ; Edward J. Oakeley¹ ; Matthias Mueller¹ ; Baltazar Gomez-Mancilla¹ ; Marc Bü ; hler² ; ³ ; Elisabetta Tabolacci⁴ ; Pietro Chiurazzi⁴ ; Giovanni Neri⁴ ; Tewis Bouwmeester¹ ; Francesco Paolo Di Giorgio¹ ; ^{francesco.di_giorgio@novartis.com} ; Barna D. Fodor¹ ; ^{barna.fodor@novartis.com}
• 关键词：fragile X syndrome ; unmethylated full mutation ; DNA methylation ; triplet expansion ; fragile X tremor ataxia syndrome ; neuron ; ubiquitin inclusion ; FMR1 ; CGG repeat ; de novo silencing
• 刊名：Stem Cell Reports
• 出版年：2016
• 出版时间：13 December 2016
• 年：2016
• 卷：7
• 期：6
• 页码：1059-1071
• 全文大小：2018 K
• 卷排序：7

文摘

Unmethylated full mutation (UFM) iPSCs and neurons maintain active FMR1 UFM iPSCs have the capacity to silence FMR1 CGG repeat size required for silencing in UFM is higher than 200 described for FXS UFM iPSCs derived neurons show signs of neurodegeneration