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Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken.
Communications Biology ( IF 5.2 ) Pub Date : 2020-03-25 , DOI: 10.1038/s42003-020-0870-z
Keiji Kinoshita 1, 2 , Takayuki Suzuki 1, 3 , Manabu Koike 4 , Chizuko Nishida 5 , Aki Koike 4 , Mitsuo Nunome 1 , Takeo Uemura 1 , Kenji Ichiyanagi 6 , Yoichi Matsuda 1, 3
Affiliation  

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.



中文翻译:

IHH 和 NHEJ1 的联合缺失导致 Creeper 鸡的软骨营养不良和胚胎致死。

Creeper ( Cp ) 鸡的特征是Cp /+ 杂合子的软骨营养不良和Cp / Cp纯合子的胚胎致死率。然而,表型背后的基因尚未完全清楚。在这里,我们显示 7 号染色体上的 25 kb 缺失,其中包含印度刺猬 ( IHH ) 和非同源末端连接因子 1 ( NHEJ1 ) 基因,是造成日本矮脚鸡Cp性状的原因。IHH为软骨细胞成熟是必需的,并在被下调的Cp / +胚胎和完全失去了在的Cp /的Cp胚胎。这表明软骨营养不良是由IHH的缺失引起的,并且Cp / +杂合子中软骨细胞成熟延迟。所述的Cp /的Cp纯合子表现出受损的DNA双链断裂(DSB)修复由于损失NHEJ1,导致在血管和神经系统,这导致细胞凋亡和早期胚胎死亡DSB积累。

更新日期:2020-04-24
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