Laboratory of Genetic Breeding, Reproduction and Precision Livestock Farming, School of Animal Science and Nutritional Engineering, Wuhan Polytechnic University, Wuhan 430023, China.
Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Genes (Basel). 2022 Oct 9;13(10):1822. doi: 10.3390/genes13101822.
β-Thalassemia induces hemolytic anemia caused by mutations in the β-chain gene locus. As humans progress from embryo to adulthood, hemoglobin recombines twice. To test whether similar hemoglobin reassembly occurs in pigs, bioinformatics tools were used to predict the pig hemoglobin-encoding gene. We then systematically analyzed the expression patterns of the gene family in three developmental stages (weaning, sexual maturity and physical maturity) of six different pig breeds (Landrace, Yorkshire, Wuzhishan, Songliao black, Meishan and Tibetan). The results showed that the new hemoglobin coding gene '' was found in pigs, while the gene did not exist in pigs, indicating that human-like reassembly might not exist in pigs. The and genes shared highly similar amino acid sequences and gene sequences. The genes on the β-chain were highly similar between humans and pigs and the amino acid sequences of human and pig genes at position 26 and positions 41-42 were identical. qPCR results showed that there were significant differences in the spatiotemporal expression patterns of the four genes (, , and ) across breeds. Our results provide a foundation for follow-up studies assessing the relationship between the gene-encoding hemoglobin and β-thalassemia disease, as well as the construction of a gene-edited β-thalassemia miniature pig model to assess β-thalassemia treatments.
β-地中海贫血是由于β-珠蛋白基因座突变引起的溶血性贫血。人类从胚胎发育到成年，血红蛋白会发生两次重组。为了测试猪是否存在类似的血红蛋白重排，我们使用生物信息学工具预测了猪血红蛋白编码基因。然后，我们系统地分析了 6 个不同猪品种（长白猪、约克夏猪、五指山猪、松辽黑猪、梅山猪和藏猪）在 3 个发育阶段（断奶、性成熟和体成熟）的基因家族表达模式。结果表明，在猪中发现了新的血红蛋白编码基因 ''，而 基因在猪中不存在，表明人类样的重排可能不存在于猪中。和 基因具有高度相似的氨基酸序列和基因序列。人和猪的β-珠蛋白基因高度相似，人类和猪 基因在 26 位和 41-42 位的氨基酸序列相同。qPCR 结果表明，这四个基因（、、和 ）在不同品种间的时空表达模式存在显著差异。我们的研究结果为后续研究评估基因编码血红蛋白与 β-地中海贫血疾病的关系以及构建用于评估 β-地中海贫血治疗方法的基因编辑 β-地中海贫血小型猪模型提供了基础。
