@article{oai:repo.qst.go.jp:00080607,
 author = {Kinoshita, Keiji and Suzuki, Takayuki and 小池, 学 and Nishida, Chizuko and 小池, 亜紀 and Nunome, Mitsuo and Uemura, Takeo and Ichiyanagi, Kenji and Matsuda, Yoichi and Manabu, Koike and Aki, Koike},
 journal = {Communications Biology},
 month = {Sep},
 note = {The Creeper (Cp) chicken is characterized by chondrodystrophy in Cp/+ heterozygotes and embryonic lethality in Cp/Cp 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 (IHH) and non-homologous end-joining factor 1 (NHEJ1) genes, is responsible for the Cp trait in Japanese bantam chickens. IHH is essential for chondrocyte maturation and is downregulated in the Cp/+ embryos and completely lost in the Cp/Cp embryos. This indicates that chondrodystrophy is caused by the loss of IHH and that chondrocyte maturation is delayed in Cp/+ heterozygotes. The Cp/Cp homozygotes exhibit impaired DNA double-strand break (DSB) repair due to the loss of NHEJ1, resulting in DSB accumulation in the vascular and nervous systems, which leads to apoptosis and early embryonic death.},
 title = {Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken},
 volume = {3},
 year = {2020}
}