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<p>Body axis patterning in vertebrates is controlled by <i>HOX</i> genes during embryogenesis, with their expression gradients defining spatial identity along the anterior–posterior axis. While the developmental roles of <i>HOX</i> genes in axial patterning are well established, it remains unclear to what extent embryonically defined anterior–posterior <i>HOX</i> expression patterns are retained as transcriptional signatures in adult tissues. Tail length in sheep provides a model for studying the phenotypic effects of <i>HOX</i> gene variants. We used Improved Jezersko–Solčava sheep, which segregate for both tail length and <i>HOXB13</i> promoter variants, to examine genotype–phenotype associations. The <i>HOXB13</i> genotype was the main determinant of adult tail length, acting primarily by modulating caudal vertebral number. RNA‑seq and qPCR analyses revealed a clear anterior–posterior <i>HOXB13</i> expression gradient in adult tail skin and bones, consistent with retained positional patterning, with stronger distal expression in short‑tailed animals. These results provide in vivo evidence that spatially patterned <i>HOX</i> gene expression is retained in adulthood, consistent with residual transcriptional signatures of embryonic anterior–posterior identity.</p>

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Retention of embryonic positional identity signatures in the adult sheep tail: evidence from HOXB13 spatial RNA expression gradients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月2日

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  • Simon Horvat,
  • Rebecca Ellenrieder,
  • Mojca Simčič,
  • Maša Čater,
  • Urška Draksler,
  • Stefan Krebs,
  • Neža Pogorevc,
  • Maulik Upadhyay,
  • Viktoria Balasopoulou,
  • Melanie Feist,
  • Caroline C. Friedel,
  • Ivica Medugorac

摘要

Body axis patterning in vertebrates is controlled by HOX genes during embryogenesis, with their expression gradients defining spatial identity along the anterior–posterior axis. While the developmental roles of HOX genes in axial patterning are well established, it remains unclear to what extent embryonically defined anterior–posterior HOX expression patterns are retained as transcriptional signatures in adult tissues. Tail length in sheep provides a model for studying the phenotypic effects of HOX gene variants. We used Improved Jezersko–Solčava sheep, which segregate for both tail length and HOXB13 promoter variants, to examine genotype–phenotype associations. The HOXB13 genotype was the main determinant of adult tail length, acting primarily by modulating caudal vertebral number. RNA‑seq and qPCR analyses revealed a clear anterior–posterior HOXB13 expression gradient in adult tail skin and bones, consistent with retained positional patterning, with stronger distal expression in short‑tailed animals. These results provide in vivo evidence that spatially patterned HOX gene expression is retained in adulthood, consistent with residual transcriptional signatures of embryonic anterior–posterior identity.