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Updated: Jan 18, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在16p.11.2 GWAS位点调节DOC2A的替代拼接的一个因果编码变体影响了对精神分裂症的易感性

Danyang Zhou1,2,3, Yue Zhang1,2,3, Zhihui Yang1,2

  • 1State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.

Science advances
|January 16, 2026
PubMed
概括

精神分裂症遗传风险可能来自改变的基因拼接,特别是涉及未注释的DOC2A异型. 这项研究通过将拼接变体与大脑变化和行为缺陷联系起来,揭示了新的疾病机制.

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