Effects of targeted deletion of a 284 bp avian-specific highly conserved element within the Sim1 gene on flight feather development in chickens

	Effects of targeted deletion of a 284 bp avian-specific highly conserved element within the Sim1 gene on flight feather development in chickens
	Kinoshita, K; Tanabe, K; Jamal, MA; Kyu-Shin, M; Xu, KX; Su, YH; Zhang, X; Suzuki, T; Wei, HJ
	2025
发表期刊	Zool. Res.
ISSN	2095-8137
卷号	46 期号:3 页码:608-617
摘要	Flight feathers represent a hallmark innovation of avian evolution. Recent comparative genomic analyses identified a 284 bp avian-specific highly conserved element (ASHCE) located within the eighth intron of the SIM bHLH transcription factor 1 (Sim1) gene, postulated to act as a cis-regulatory element governing flight feather morphogenesis. To investigate its functional significance, genome-edited (GE) primordial germ cell (PGC) lines carrying targeted ASHCE deletions were generated using CRISPR/Cas9-mediated editing, with germline chimeric males subsequently mated with wild-type (WT) hens to obtain GE progeny. The resulting GE chickens harbored 257-260 bp deletions, excising approximately half of the Sim1-ASHCE sequence. Reverse transcription-quantitative real-time polymerase chain reaction (RT-qPCR) analysis showed an average 0.32-fold reduction in Sim1 expression in the forelimbs of GE embryos at day 8 (E8) compared to WT counterparts. Despite this, GE chickens developed structurally normal flight and tail feathers. In situ hybridization localized Sim1 expression to the posterior mesenchyme surrounding flight feather buds in E8 WT embryos, but not within the buds themselves. These results suggest that partial deletion of Sim1-ASHCE, despite diminishing Sim1 expression, does not disrupt flight feather formation. The excised region appears to possess enhancer activity toward Sim1 but is dispensable for flight feather development. Complete ablation of the ASHCE will be necessary to fully resolve the regulatory role of Sim1 in avian feather morphogenesis.
收录类别	SCIE
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14796
专题	科研部门_分子进化与基因组多样性（张亚平）
推荐引用方式 GB/T 7714	Kinoshita, K,Tanabe, K,Jamal, MA,et al. Effects of targeted deletion of a 284 bp avian-specific highly conserved element within the Sim1 gene on flight feather development in chickens[J]. Zool. Res.,2025,46(3):608-617.
APA	Kinoshita, K.,Tanabe, K.,Jamal, MA.,Kyu-Shin, M.,Xu, KX.,...&Wei, HJ.(2025).Effects of targeted deletion of a 284 bp avian-specific highly conserved element within the Sim1 gene on flight feather development in chickens.Zool. Res.,46(3),608-617.
MLA	Kinoshita, K,et al."Effects of targeted deletion of a 284 bp avian-specific highly conserved element within the Sim1 gene on flight feather development in chickens".Zool. Res. 46.3(2025):608-617.

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