一个与马多趾畸形相关的 LMBR1 中的显性错义变异。
A dominant missense variant within LMBR1 related to equine polydactyly.
机构信息
State Key Laboratory of Animal Biotech Breeding, National Engineering Laboratory for Animal Breeding, Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, China Agricultural University, Beijing, China.
College of Veterinary Medicine, China Agricultural University, Beijing, China.
出版信息
Commun Biol. 2024 Oct 31;7(1):1420. doi: 10.1038/s42003-024-07065-w.
Polydactyly was recorded before 100 BCE and attracted widespread interest because of its relationship to limb health and ancestral traits in horses. However, the underlying reasons for the development of polydactyly remain unclear. To search for polydactyly-related genes, we utilize a paternal half-sib family and screen for variants that match the mode of inheritance. Through this screening process, 77 variants in 65 genes are filtered. A missense variant (EqCab3.0 chr4: <107353368> A > G) (rs1138485164) in the 3rd exon of LMBR1 is identified as a source of amino acid sequence variation. Gene editing confirms that the variant down-regulates LMBR1expression, increases the proliferative viability of mutant cells, and inhibits apoptosis. This study suggests that LMBR1 might play a role in the development of polydactyly and that the variant detected in this study is related to polydactyly in horses. However, further research is needed to determine whether a direct relationship exists.
多指（趾）畸形早在公元前 100 年就有记载，并因其与四肢健康和马的祖先特征有关而引起广泛关注。然而，多指（趾）畸形的发展的根本原因仍不清楚。为了寻找与多指（趾）相关的基因，我们利用父半同胞家系，并筛选符合遗传模式的变异。通过这种筛选过程，在 65 个基因中筛选出 77 个变异。在 LMBR1 的第 3 外显子中发现了一个错义变异（EqCab3.0 chr4：<107353368> A > G）（rs1138485164），这是氨基酸序列变异的来源。基因编辑证实该变异下调了 LMBR1 的表达，增加了突变细胞的增殖活力，并抑制了细胞凋亡。本研究表明，LMBR1 可能在多指（趾）畸形的发生中起作用，并且本研究中检测到的变异与马的多指（趾）有关。然而，需要进一步的研究来确定是否存在直接关系。
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