Inactivation of the CMAH gene and deficiency of Neu5Gc play a role in human brain evolution
Abstract During human evolution, some genes were lost or silenced from the genome of hominins. These missing genes might be the key to the evolution of humans’ unique cognitive skills. An inactivation mutation in CMP-N-acetylneuraminic acid hydroxylase (CMAH) was the result of natural selection. The...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
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| Series: | Inflammation and Regeneration |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41232-025-00368-3 |
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| Summary: | Abstract During human evolution, some genes were lost or silenced from the genome of hominins. These missing genes might be the key to the evolution of humans’ unique cognitive skills. An inactivation mutation in CMP-N-acetylneuraminic acid hydroxylase (CMAH) was the result of natural selection. The inactivation of CMAH protected our ancestors from some pathogens and reduced the level of N-glycolylneuraminic acid (Neu5Gc) in brain tissue. Interestingly, the low level of Neu5Gc promoted the development of brain tissue, which may have played a role in human evolution. As a xenoantigen, Neu5Gc may have been involved in brain evolution by affecting neural conduction, neuronal development, and aging. Graphical Abstract During human evolution, humans lost the ability to synthesize Neu5Gc after the inactivation mutation of the gene CMAH. Therefore, Neu5Gc in the human body is a xenoantigen. The inactivation of CMAH and the loss of endogenous Neu5Gc may have played a role in human brain evolution by affecting neural conduction, neuronal development, and aging. |
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| ISSN: | 1880-8190 |