School of Ecology and Environment, Northwestern Polytechnical University, Xi'an 710072, China.
Department of Orthopaedics, Xijing Hospital, The Fourth Military Medical University, Xi'an 710032, China.
Sci Adv. 2021 Mar 17;7(12). doi: 10.1126/sciadv.abe9459. Print 2021 Mar.
The suite of adaptations associated with the extreme stature of the giraffe has long interested biologists and physiologists. By generating a high-quality chromosome-level giraffe genome and a comprehensive comparison with other ruminant genomes, we identified a robust catalog of giraffe-specific mutations. These are primarily related to cardiovascular, bone growth, vision, hearing, and circadian functions. Among them, the giraffe gene is an outlier with seven unique amino acid substitutions not found in any other ruminant. Gene-edited mice with the giraffe-type show exceptional hypertension resistance and higher bone mineral density, both of which are tightly connected with giraffe adaptations to high stature. Our results facilitate a deeper understanding of the molecular mechanism underpinning distinct giraffe traits, and may provide insights into the study of hypertension in humans.
长颈鹿极端体型相关的适应特征一直以来都引起了生物学家和生理学家的兴趣。通过生成高质量的染色体水平的长颈鹿基因组，并与其他反刍动物基因组进行全面比较，我们鉴定出了一个强大的长颈鹿特异性突变目录。这些突变主要与心血管、骨骼生长、视觉、听觉和昼夜节律功能相关。其中，长颈鹿 基因是一个异常基因，其七个独特的氨基酸取代在任何其他反刍动物中都没有发现。具有长颈鹿型 基因的基因编辑小鼠表现出异常的高血压抗性和更高的骨密度，这两者都与长颈鹿适应高体型密切相关。我们的研究结果促进了对长颈鹿独特特征的分子机制的深入理解，并可能为人类高血压的研究提供新的思路。
