<p>Body size represents a complex phenotype driven by genetic variation and epigenetic regulation, with the molecular processes underlying this trait remaining a central challenge to disentangle. To elucidate these fundamental mechanisms, we apply a multi-omics approach that combines ROH-based selection mapping with growth plate epigenomics in pigs. Taking advantage of divergent selection that separates pigs into miniature and larger-sized groups, we target genomic regions under this intense selection for height, which harbour functional variants with pronounced effects. We assemble a multi-omics dataset, identifying homozygous alternative SNPs in Aachen Minipigs and Mini-LEWE predicted to affect cis-regulatory elements potentially interacting with differentially expressed genes that drive body size in breed-dependent ways. Our results point to an lncRNA (<i>ENSSSCG00000048200</i>) near <i>SDR16C5</i> and <i>PLAG1, HPX</i> and NET-related pathways, as central players in the growth plates. In summary, our study offers a multi-layered characterisation of regulatory mechanisms in the growth plates in the pig model.</p>

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Integrative multi-omics analysis of growth plate regulation underlying body size in miniature pigs

  • Nadia Khaveh,
  • Jan Berghöfer,
  • Brehm Ralph,
  • René Buschow,
  • Karsten Cirksena,
  • Cord Drögemüller,
  • Abeera Fatima,
  • Gordon Grabert,
  • Gisa Gerold,
  • Alexander Grahofer,
  • Ralf Herwig,
  • Klaus Jung,
  • Tim Kacprowski,
  • Bai-Wei Lo,
  • Roya Shiasi Sardoabi,
  • Martin Vingron,
  • Stefan Mundlos,
  • Julia Metzger

摘要

Body size represents a complex phenotype driven by genetic variation and epigenetic regulation, with the molecular processes underlying this trait remaining a central challenge to disentangle. To elucidate these fundamental mechanisms, we apply a multi-omics approach that combines ROH-based selection mapping with growth plate epigenomics in pigs. Taking advantage of divergent selection that separates pigs into miniature and larger-sized groups, we target genomic regions under this intense selection for height, which harbour functional variants with pronounced effects. We assemble a multi-omics dataset, identifying homozygous alternative SNPs in Aachen Minipigs and Mini-LEWE predicted to affect cis-regulatory elements potentially interacting with differentially expressed genes that drive body size in breed-dependent ways. Our results point to an lncRNA (ENSSSCG00000048200) near SDR16C5 and PLAG1, HPX and NET-related pathways, as central players in the growth plates. In summary, our study offers a multi-layered characterisation of regulatory mechanisms in the growth plates in the pig model.