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

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ID: 101718
2020
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Abstract
The Creeper () chicken is characterized by chondrodystrophy in /+ heterozygotes and embryonic lethality in / 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 () and non-homologous end-joining factor 1 () genes, is responsible for the trait in Japanese bantam chickens. is essential for chondrocyte maturation and is downregulated in the embryos and completely lost in the / embryos. This indicates that chondrodystrophy is caused by the loss of and that chondrocyte maturation is delayed in / heterozygotes. The / homozygotes exhibit impaired DNA double-strand break (DSB) repair due to the loss of , resulting in DSB accumulation in the vascular and nervous systems, which leads to apoptosis and early embryonic death.
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kinoshita2020combinedcommunications Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Kinoshita, Keiji;Suzuki, Takayuki;Koike, Manabu;Nishida, Chizuko;Koike, Aki;Nunome, Mitsuo;Uemura, Takeo;Ichiyanagi, Kenji;Matsuda, Yoichi;
Journal Communications biology
Year 2020
DOI
10.1038/s42003-020-0870-z
URL
Keywords
development mutation animal breeding bone development

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