Uncovering the Genetic Basis of Tail Loss in Hominoids: A Breakthrough Study Published in Nature

2024-02-28 15:11:53

Research Press Release

Nature

February 29, 2024

A paper reports findings that provide clues to the genetic basis of the loss of the tail during the evolution of hominoids (humans and great apes).NaturePublished in This time, we modeled embryonic development using mice and found that when a “humanoid-specific genetic factor” was inserted into a “gene related to tail development,” a new isoform of the protein was generated. was found to inhibit tail elongation. The results suggest that this genetic factor contributed to tail loss in humans and great apes. Additionally, the authors suggest that humans and great apes may have lost their tails during evolution, making them more susceptible to neural tube defects.

Hominoids (humans, chimpanzees, gorillas, orangutans, gibbons, etc.), unlike other primate species, do not have tails. Losing the tail is one of the most striking physical changes that occurred in the evolutionary lineage that led to humans and other great apes. However, the genetic mechanisms that promoted tail loss in hominoid evolution remain unknown.

Now, Bo Xia, Jef Boeke, Itai Yanai and colleagues examined 140 genes associated with vertebrate tail development to find changes that may have caused tail loss in hominids. The authors suggest that the insertion of a specific Alu sequence into a specific site in the TBXT gene (a gene involved in the development of the tail in tailed animals) in the ancestor of hominoids may have contributed to the loss of the tail. I made a hypothesis. To test this hypothesis, the authors generated a mouse model expressing both the full-length and exon-deleted isoforms of the Tbxt gene (induced in hominoids by insertion of Alu sequences). did. They found that mice expressing both isoforms of the Tbxt gene had no tails or short tails, depending on the proportion of expression in the embryonic tail bud. The authors suggest that their results provide evidence that isoforms of the Tbxt gene with missing exons contribute to tail loss. They also found that mice expressing an isoform of the Tbxt gene with missing exons can develop neural tube defects. In humans, approximately 1 in 1,000 newborns develops a neural tube defect.

The authors suggest that the evolutionary loss of the tail may have come with an adaptive cost: the possibility of developing neural tube defects, which continue to affect human health today. An example of a neural tube defect is spina bifida, where the vertebrae do not form properly in the mother’s womb.

doi:10.1038/s41586-024-07095-8

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