Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

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• 作者：Ryan J. Delahanty¹ ; ² ; Yanfeng Zhang¹ ; Terry Jo Bichell³ ; Wangzhen Shen³ ; Kelienne Verdier³ ; Robert L. Macdonald³ ; ⁴ ; ⁵ ; ⁶ ; Lili Xu³ ; Kelli Boyd⁷ ; Janice Williams⁸ ; Jing-Qiong Kang³ ; ⁶ ; ⁹ ; ^{jingqiong.kang@vanderbilt.edu}
• 关键词：GABAA receptors ; GABRB3 ; OCA2 ; UBE3A ; deletion ; epilepsy ; autism ; eye ; hypopigmentation ; Angelman syndrome
• 刊名：Cell Reports
• 出版年：2016
• 出版时间：20 December 2016
• 年：2016
• 卷：17
• 期：12
• 页码：3115-3124
• 全文大小：2899 K
• 卷排序：17

文摘

Gabrb3 and Oca2 are located within the Angelman-Prader-Willi imprinted region Oca2 is associated with ocular hypopigmentation while Gabrb3 encodes a GABAAR subunit Mice with Gabrb3 disruption have reduced eye pigmentation due to melanosome atrophy Disruption of the Gabrb3 promoter region alone downregulates transcription of Oca2