| 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
|
| リソース情報 |
| ニワトリ・ウズラ |
JB
GSP/Cp |
