ArticleCell genomics2025
An ancient regulatory variant of ACSF3 influences the coevolution of increased human height and basal metabolic rate via metabolic homeostasis.
Article in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- PIEZO Channels in Metabolism and Metabolic Diseases: Research Advances and Therapeutic Strategies.Current obesity reports · 2026Review
- Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!JIMD reports · 2026Article
- A unified ACSF3-mtFAS model linking mitochondrial energy metabolism to human anthropometric evolution.Cell genomics · 2026Article
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Authors and funding
13 authors.
Funding
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Abstract
Anatomically modern humans (AMHs) exhibit a significant increase in basal metabolic rate (BMR) and height compared to non-human apes. This study investigates the genetic basis underlying these traits. Our analyses reveal a strong genetic correlation between height and BMR. A regulatory mutation, rs34590044-A, was found to be associated with the increased height and BMR in AMHs. rs34590044-A upregulates the expression of ACSF3 by increasing its enhancer activity, leading to increased body length and BMR in mice fed essential amino acids which are characteristic of meat-based diets. In the British population, rs34590044-A has been under positive selection over the past 20,000 years, with a particularly strong signal in the last 5,000 years, as also evidenced by ancient DNA analysis. These results suggest that the emergence of rs34590044-A may have facilitated the adaptation to a meat-enriched diet in AMHs, with increased height and BMR as consequences of this dietary shift.
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