Lee Sung-Yeon, Lee Bo-Young, Lim Byeonghwi, Uzzaman Rasel, Jang Goo, Kim Kwan-Suk
Department of Animal Sciences, Chungbuk National University, Cheongju, South Korea.
GEM Division, Macrogen Inc., Seoul, South Korea.
Anim Genet. 2025 Feb;56(1):e13490. doi: 10.1111/age.13490. Epub 2024 Oct 30.
Camels possess exceptional adaptability, allowing them to withstand extreme temperatures in desert environments. They conserve water by reducing their metabolic rate and regulating body temperature. The heart of the camel plays a crucial role in this adaptation, with specific genes expressed in cardiac tissue that are essential for mammalian adaptation, regulating cardiac function and responding to environmental stressors. One such gene, nebulin-related-anchoring protein (NRAP), is involved in the assembly of myofibrils and the transmission of force within the heart. In our study of the NRAP gene across various livestock species, including three camel species, we identified a camel-specific exon region in the NRAP transcripts. This additional exon (exon 4) contains an open reading frame predicted in camels. To investigate its function, we generated knock-in mice expressing camel NRAP exon 4. These 'camelized mice' exhibited normal phenotypic characteristics compared with wild-type mice but showed elevated body temperatures under cold stress. Transcriptome analyses of the hearts from camelized mice under cold stress revealed differentially expressed inflammatory cytokine genes, known to influence cardiac function by modulating the contractility of cardiac muscle cells. We propose further investigations utilizing these camelized mice to explore these findings in greater depth.
骆驼具有非凡的适应能力,使它们能够在沙漠环境中耐受极端温度。它们通过降低代谢率和调节体温来保存水分。骆驼的心脏在这种适应过程中起着关键作用,心脏组织中表达的特定基因对哺乳动物的适应至关重要,这些基因调节心脏功能并应对环境应激源。其中一个基因,即肌动蛋白结合蛋白相关锚定蛋白(NRAP),参与肌原纤维的组装以及心脏内的力传递。在我们对包括三种骆驼物种在内的各种家畜物种的NRAP基因研究中,我们在NRAP转录本中鉴定出一个骆驼特异性外显子区域。这个额外的外显子(外显子4)在骆驼中含有一个预测的开放阅读框。为了研究其功能,我们构建了表达骆驼NRAP外显子4的基因敲入小鼠。与野生型小鼠相比这些“骆驼化小鼠”表现出正常的表型特征,但在冷应激下体温升高。对冷应激下骆驼化小鼠心脏的转录组分析揭示了差异表达的炎性细胞因子基因,已知这些基因通过调节心肌细胞的收缩性来影响心脏功能。我们建议利用这些骆驼化小鼠进行进一步研究,以更深入地探索这些发现。