論文 - 詳細
| RRC ID | 60687 |
|---|---|
| 著者 | Kinoshita K, Suzuki T, Koike M, Nishida C, Koike A, Nunome M, Uemura T, Ichiyanagi K, Matsuda Y. |
| タイトル | Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken. |
| ジャーナル | Commun Biol |
| Abstract |
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. |
| 巻・号 | 3(1) |
| ページ | 144 |
| 公開日 | 2020-3-25 |
| DOI | 10.1038/s42003-020-0870-z |
| PII | 10.1038/s42003-020-0870-z |
| PMID | 32214226 |
| PMC | PMC7096424 |
| MeSH | Animals Apoptosis Bone Diseases, Developmental / embryology Bone Diseases, Developmental / genetics Bone Diseases, Developmental / metabolism Bone Diseases, Developmental / veterinary* Bone and Bones / embryology* Bone and Bones / metabolism Cell Differentiation Cell Proliferation Cells, Cultured Chick Embryo DNA Repair Enzymes / deficiency DNA Repair Enzymes / genetics* DNA-Binding Proteins / deficiency DNA-Binding Proteins / genetics* Embryonic Development Gene Deletion* Gene Expression Regulation, Developmental Genetic Predisposition to Disease Hedgehog Proteins / deficiency Hedgehog Proteins / genetics* Heterozygote Homozygote Phenotype Poultry Diseases / embryology Poultry Diseases / genetics* Poultry Diseases / metabolism |
| IF | 4.165 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 5 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| ニワトリ・ウズラ | JB GSP/Cp |