HBB-deficient Macaca fascicularis monkey presents with human β-thalassemia
HBB 缺乏的 Macaca fascicularis 猴子与人的 -thalassemia 介绍作者机构：College of Veterinary Medicine Key Laboratory of Comprehensive Prevention and Control for Severe Clinical Animal Diseases of Guangdong Province South China Agricultural University Guangzhou 510642 China Key Laboratory of Reproductive Medicine of Guangdong Province The First Affiliated Hospital and School of Life Sciences Sun Yatsen University Guangzhou 510275 China MOE Key Laboratory of Gene Function and Regulation State Key Laboratory of Biocontrol School of Life Sciences SunYat-sen University Guangzhou 510275 China Department of Pediatrics Second Affiliated Hospital Sun Yat-sen University Guangzhou 510120 China
出 版 物：《Protein & Cell》 (蛋白质与细胞（英文版）)
年 卷 期：2019年第10卷第7期
页 面：538-542页
核心收录：
学科分类：08[工学] 0835[工学-软件工程] 081202[工学-计算机软件与理论] 0812[工学-计算机科学与技术（可授工学、理学学位）]
基 金：National Key R&D Program of China (2017YFC1001901) the Frontier and Inn ovation of Key Technology Project in Science and Technology Department of Guangdong Province (2014B020225007) the National Natural Science Foundation of China (81771579) the Guangzhou Science and Technology Project (201803010020 and 201707010085) Program for New Century Excellent Talents in South China Agricultural University (NCET-12-1078)
主 题：mutation mouse Editor mice most help null sub
摘 要：Dear Editor,β-Thalassemia is a common severe genetic disease caused by mutations in HBB and affects approximately 1.5% of the global population (Origa, 2017). In southern China, the carrier rate of β-thalassemia is as high as 6.43%, creating a high socio-economic burden (Xiong et al., 2010). In adult humans, there are three types of hemoglobin: HbA1 (~97%), HbA2 (~2%) and HbF (~1%). HbA1 (α2β2) is composed of two a-globin and two β-globi n sub units en coded by HBA and HBB, respectively;HbF (α2β2)is made up of two α-globin subunits and two β-globin sub units en coded by HBG. Mutations in the coding region or regulatory region of HBB are involved in β-thalassemia pathogenesis. Except for some rare dominant mutations, most HBB mutations are recessive (Origa, 2017). Depending on the mutation type, the β-globin level will either be reduced or completely depleted, resulting in α-globin accumulation and precipitation. These α-globin precipitates lead to red blood cell death, resulting in anemia and tissue damage, and even death in thalassemia major patients. Blood transfusions can help slow disease progression but lead to iron overload, ultimately resulting in iron toxicity. Bone marrow transfer is the only cure in the clinic and is available only to a small percentage of patients with human leukocyte antigervmatched donors. Recently, gene therapy and gene editing therapy have shown great promise in curing β-thalassemia (Glaser et al., 2015;Thompson et al., 2018). However, no appropriate animal models are available for evaluating the safety and efficacy of such advanced therapeutic strategies in vivo.β-thalassemia mice are the sole animal model available for research. However, substantial differences have been reported between the types and expressi on patter ns of human and mouse globins (McColl and Vadolas, 2016). Moreover, mice contain no fetal globin gene equivalent, and homozygous mutations of HBB in mouse for early models of β-thalassemia major or Cooley anemia are
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