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<p>Mutations in Myostatin (<i>MSTN</i>) coding-region are known to dramatically enhance muscle mass. In contrast, the impact of variations in <i>MSTN</i> cis-regulatory elements remains poorly understood. To shed light on this issue, we analysed the <i>MSTN</i> promoter/enhancer (<i>MSTN</i> P/E) using a phylogenetic framework, focused on comparing transcription factor binding site (TFBS) patterns across vertebrates. We identified a conserved core shared by jawed vertebrates, which arose in the <i>MSTN</i> P/E before the cartilaginous and bony vertebrates divergence. Within this core, we found clade-specific TFBS arrangements. In addition, we detected an ancient duplication of the <i>MSTN</i> P/E core, which generated additional layers of TFBS conservation across amniotes. The genetic mechanisms driving diversification in the core and duplicated regions include TFBS gain/loss, turnover, and overlapping. Notably, distinct <i>MSTN</i> expression in chicken and mouse embryos somites appears to correlate with structural variations in the <i>MSTN</i> P/E, suggesting adjustments in <i>MSTN</i> expression. Finally, we observed signatures of accelerated evolution in the stem branches of Sauropsida and Mammalia and in the branches leading to Aves, Rodentia and Chiroptera. Our work enables future studies to explore how variations in <i>MSTN</i> P/E may be linked to skeletal muscle trait variation and evolutionary innovation.</p>

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Genetic mechanisms shaping the evolution of an ancient Myostatin promoter/enhancer across vertebrates

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月15日

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  • Carolina Stefano Mantovani,
  • Thaís Metzker-Pinto,
  • Igor Buzzatto-Leite,
  • Jórdan Fares Sampar,
  • Marina Alves Fontoura,
  • Arnon Dias Jurberg,
  • Mariana Freitas Nery,
  • Lúcia Elvira Alvares

摘要

Mutations in Myostatin (MSTN) coding-region are known to dramatically enhance muscle mass. In contrast, the impact of variations in MSTN cis-regulatory elements remains poorly understood. To shed light on this issue, we analysed the MSTN promoter/enhancer (MSTN P/E) using a phylogenetic framework, focused on comparing transcription factor binding site (TFBS) patterns across vertebrates. We identified a conserved core shared by jawed vertebrates, which arose in the MSTN P/E before the cartilaginous and bony vertebrates divergence. Within this core, we found clade-specific TFBS arrangements. In addition, we detected an ancient duplication of the MSTN P/E core, which generated additional layers of TFBS conservation across amniotes. The genetic mechanisms driving diversification in the core and duplicated regions include TFBS gain/loss, turnover, and overlapping. Notably, distinct MSTN expression in chicken and mouse embryos somites appears to correlate with structural variations in the MSTN P/E, suggesting adjustments in MSTN expression. Finally, we observed signatures of accelerated evolution in the stem branches of Sauropsida and Mammalia and in the branches leading to Aves, Rodentia and Chiroptera. Our work enables future studies to explore how variations in MSTN P/E may be linked to skeletal muscle trait variation and evolutionary innovation.