A novel porcine model reproduces human oculocutaneous albinism type II.
A novel porcine model reproduces human oculocutaneous albinism type II.
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新型猪模型再现人类眼皮肤白化病类型
DOI：
10.1038/s41421-019-0117-7
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发表时间：
2019
期刊：
影响因子：
33.5
通讯作者：
Zhao Jianguo
中科院分区：
文献类型：
--
作者：
Zhang Ying;Hong Qianlong;Cao Chunwei;Yang Lizhu;Li Yongshun;Hai Tang;Zhang Hongyong;Zhou Qi;Sui Ruifang;Zhao Jianguo
亲爱的编辑，眼皮肤白化病（OCA）代表了一组遗传异质性疾病，其特征是从出生时起皮肤，头发和眼睛的色素沉着缺失或减少1。OCA II型（OCA2）是最常见的疾病类型之一，占全球病例的30%。然而，目前还没有有效的治疗方法或药物来治疗这种疾病，因此有必要建立动物模型来评估新药或开发新的临床治疗干预措施。先前的研究已经报道了OCA2的几种小鼠模型。然而，除了显示OCA2的一些临床表现外，几种突变鼠株还伴有其他异常，包括新生儿生存能力降低，产前致死率增加，生殖和神经系统疾病以及腭裂的发病率3，4。这表明小鼠可能无法完全重现OCA表型，因此需要更合适的动物模型。在这里，我们创建了一个OCA2的猪模型，以弥合人类临床病例和啮齿类动物模型之间的差距，猪模型在眼睛和毛囊中显示出与OCA2患者中观察到的相似的明显色素减退，并且缺乏其他明显的异常。与独特的两头黑的毛色模式相比，从乙基亚硝基脲（ENU）诱变程序5（图1a）中鉴定出Z0015系中表现出两端稀释棕色毛色的突变巴马小型猪。粉红色的眼睛也伴随着
Dear Editor, Oculocutaneous albinism (OCA) represents a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes from the time of birth 1. OCA type II (OCA2) is one of the most common type of the disorder, and accounts for 30% of cases worldwide 2. However, no effective treatments or medicines exist for curing this disease currently, thus it is necessary to generate animal models for evaluating novel medicines or developing novel therapeutic interventions for the clinic. Previous studies have reported several mouse models for OCA2. However, in addition to showing some of the clinical manifestations of OCA2, several mutant murine strains are accompanied by other abnormalities, including decreased neonatal viability, increased prenatal lethality, reproductive and neurological disorders, and incidence of cleft palate 3, 4. It suggests that mice may not fully recapitulate the OCA phenotype, thus highlighting the need for a more suitable animal model. Here, we created a porcine model of OCA2 to bridge the gap between human clinical cases and rodent animal models, and the porcine model displays overt hypopigmentation in eyes and hair follicles similar to those observed in OCA2 patients and lacked other apparent abnormities.Compared to the coat color pattern of a unique two-end black, the mutant Bama miniature pigs in the Z0015 line exhibiting a two-end diluted brown coat color were identified from an ethylnitrosourea (ENU) mutagenesis program 5 (Fig. 1 a). Pink eyes also accompanied the