Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken

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<jats:title>Abstract</jats:title><jats:p>The Creeper (<jats:italic>Cp</jats:italic>) chicken is characterized by chondrodystrophy in <jats:italic>Cp</jats:italic>/+ heterozygotes and embryonic lethality in <jats:italic>Cp</jats:italic>/<jats:italic>Cp</jats:italic> homozygotes. However, the genes underlying the phenotypes have not been fully known. Here, we show that a 25 kb deletion on chromosome 7, which contains the Indian hedgehog (<jats:italic>IHH</jats:italic>) and non-homologous end-joining factor 1 (<jats:italic>NHEJ1</jats:italic>) genes, is responsible for the <jats:italic>Cp</jats:italic> trait in Japanese bantam chickens. <jats:italic>IHH</jats:italic> is essential for chondrocyte maturation and is downregulated in the <jats:italic>Cp/+</jats:italic> embryos and completely lost in the <jats:italic>Cp</jats:italic>/<jats:italic>Cp</jats:italic> embryos. This indicates that chondrodystrophy is caused by the loss of <jats:italic>IHH</jats:italic> and that chondrocyte maturation is delayed in <jats:italic>Cp</jats:italic>/<jats:italic>+</jats:italic> heterozygotes. The <jats:italic>Cp</jats:italic>/<jats:italic>Cp</jats:italic> homozygotes exhibit impaired DNA double-strand break (DSB) repair due to the loss of <jats:italic>NHEJ1</jats:italic>, resulting in DSB accumulation in the vascular and nervous systems, which leads to apoptosis and early embryonic death.</jats:p>

収録刊行物

  • Communications Biology

    Communications Biology 3 (1), 144-, 2020-03-25

    Springer Science and Business Media LLC

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