RRC ID 60687
Author Kinoshita K, Suzuki T, Koike M, Nishida C, Koike A, Nunome M, Uemura T, Ichiyanagi K, Matsuda Y.
Title Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken.
Journal 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.
Volume 3(1)
Pages 144
Published 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
Chicken / Quail JB GSP/Cp