马多趾性状研究进展

doi:10.16431/j.cnki.1671-7236.2023.07.019

摘要/Abstract

摘要： 多趾是脊椎动物常见的一种先天性肢体异常。马多趾表现为四肢出现额外趾，根据出现趾数的多少和部位可分为单侧多趾、双侧多趾和四肢多趾3类，其中单侧多趾最多，占58%。研究表明，遗传是导致多趾的重要因素，多趾的遗传模式相对复杂。已有证据表明，马的多趾与染色体变异有关，但由于多趾马数量稀少，加之马单胎且世代间隔长，难以构建大规模家系和参考群，无法利用全基因组关联分析和传统的正向遗传学方法确定突变基因及位点，因此相关分子机制研究较少，多趾基因尚不清楚。人及其他物种中已有的多指（趾）研究结果显示，控制肢体发育的信号通路保守，且基因表达具有时空性。已知的不同物种的多趾相关基因199个，部分基因具有一因多效性。相似性比对显示，多趾相关的同源基因中马有178个，相似性较高，其中相似性>90%的占56%，相似性>80%的占96%。这些基因可作为马多趾性状的候选基因，为后续马多趾性状分子机制研究提供基因靶标和参考。

关键词: 马; 多趾; 形态学分析; 信号通路; 候选基因

Abstract: Polydactyly is a common hereditary limb malformations in vertebrates.Equine polydactyly presents additional digits on limbs, which can be classified into three categories:Unilateral polydactyly, bilateral polydactyly, and four limb polydactyly according to the number and positions of toes.The type of unilateral polydactyly is the most popular, accounting for 58% in all.Hereditary variations are the main factors attributed to polydactyly, and the inheritance pattern of polydactyly are relatively complex.Evidence had shown that polydactyly is associated with chromosomal variation in horses.However, due to the scarcity coupled with singleton and long generational intervals, it is difficult to construct large-scale lineages to identify mutations using genome-wide association study (GWAS) and forward-genetic methods.Consequently, the molecular mechanisms and genes of horses polydactyly are still not clear till now.The growing experimental evidence in human and other species illustrated that the signaling pathways controlling limb development are conserved and gene expression is temporal.A total of 199 polydactyly-associated genes are known in different species, and some of them have pleiotropy.Gene similarity analysis revealed 178 homologous genes in horses, of which 56% had >90% similarity and 96% had >80% similarity.Therefore, the polydactyly genes found in other species could be the candidate genes for equine polydactyly, offering valuable insights into the molecular mechanisms of this condition.

Key words: horse; polydactyly; morphological analysis; signal pathway; candidate gene

中图分类号:

S821

钟玲, 陈吕彦烨, 栾悦, 岳潇雨, 陈群, 王勤. 马多趾性状研究进展[J]. 中国畜牧兽医, 2023, 50(7): 2789-2800.

ZHONG Ling, CHEN Lyuyanye, LUAN Yue, YUE Xiaoyu, CHEN Qun, WANG Qin. A Review of Equine Polydactyly Study[J]. China Animal Husbandry & Veterinary Medicine, 2023, 50(7): 2789-2800.

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