Human-specific CCG-repeat insertion in the RBFOX1 promoter implicated in autism and speech enhances EGR1-responsive acti

bioRxiv 预印本 · 2026-10-12 · 预印本

Human-specific promoter innovations have been predicted to shape human-specific traits. Here, we investigated the RBFOX1 splice regulator gene, which is specifically upregulated in human and songbird speech/song brain areas. We found that the human RBFOX1 promoter associated with autism and language impairment harbors a human-specific CCG trinucleotide insertion creating a functional CCG-repeat motif. Comparative sin…

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Lee, C., Davenport, M. H., Jarvis, E. D.

本文摘自《每日前沿研究简报 · 2026-10-14》「生物信息 / 组学（单细胞·差异表达）」。本内容仅用于研究信息整理与科普交流，不构成医疗建议。