The Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland,
Adv Exp Med Biol. 2014;801:471-6. doi: 10.1007/978-1-4614-3209-8_60.
The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.
在北美人群中发现的首个导致视网膜色素变性的常染色体显性突变是视紫红质基因（RHO）第 23 位脯氨酸突变为组氨酸（P23H RHO）。许多生化研究表明，P23H 突变诱导视紫红质（RHO）错误折叠，导致内质网应激。本文综述了这一课题的最新研究进展。
