Biology

On the genetic basis of tail-loss evolution in humans and apes

B. Xia, W. Zhang, et al.

Discover groundbreaking research by Bo Xia and colleagues exploring the evolutionary significance of tail loss in hominoids. This study reveals that a specific Alu element insertion in the *TBXT* gene contributes to tail loss and may induce neural tube defects, highlighting an intriguing evolutionary trade-off.

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Abstract

The loss of the tail in hominoids (humans and apes) is a significant evolutionary event, potentially linked to bipedalism. This study identifies a hominoid-specific Alu element insertion in the *TBXT* gene intron as a contributing factor. This insertion interacts with a neighboring Alu element, causing alternative splicing and resulting in a shorter *TBXT* isoform. Mouse models expressing this isoform exhibited tail loss or shortening, suggesting the isoform's sufficiency in inducing the phenotype. However, this isoform also led to neural tube defects, suggesting a potential evolutionary trade-off.

Publisher

Nature

Published On

Feb 29, 2024

Authors

Bo Xia, Weimin Zhang, Guisheng Zhao, Xinru Zhang, Jiangshan Bai, Ran Brosh, Aleksandra Wudzinska, Emily Huang, Hannah Ashe, Gwen Ellis, Maayan Pour, Yu Zhao, Camila Coelho, Yinan Zhu, Alexander Miller, Jeremy S. Dasen, Matthew T. Maurano, Sang Y. Kim, Jef D. Boeke, Itai Yanai

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