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Communications biology2024; 7(1); 1420; doi: 10.1038/s42003-024-07065-w

A dominant missense variant within LMBR1 related to equine polydactyly.

Abstract: 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.
© 2024. The Author(s).
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Publication Date: 2024-10-31 PubMed ID: 39482424PubMed Central: PMC11527984DOI: 10.1038/s42003-024-07065-wGoogle Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This study investigates a potential genetic cause for polydactyly (extra digits) among horses. Researchers identified a specific gene variant in LMBR1 that is suspected of playing a role in the condition’s development.

Research Objective

  • The researchers sought to better understand the potential genetic causes behind the occurrence of polydactyly in horses, a condition known since 100 BCE. While this condition has significance for horse limb health and ancestral traits, its basis and development are not yet clear.

Methods and Approach

  • To identify potential genes relevant to polydactyly, the researchers used a paternal half-sib family of horses for screening. They were searching for gene variants that matched the mode of inheritance in the horses.
  • A total of 77 variants from 65 genes were screened as part of this study.

Findings

  • The study identified a missense variant that is, a variant that causes changes in the amino acid sequence inthe LMBR1 gene. This variant in question is denoted as EqCab3.0 chr4: <107353368> A > G or rs1138485164.
  • According to the findings, this particular variant in LMBR1 caused a down-regulation of LMBR1 expression. This implies that the gene’s normal function was inhibited, changing the behaviour of cells carrying this variant.
  • This change in cell behaviour included an increase in the proliferative viability of mutant cells (i.e., the cells’ ability to replicate increased), and an associated decrease in apoptosis or programmed cell death.

Conclusion and Future Directions

  • The study suggests that the LMBR1 gene plays a potentially significant role in the development of polydactyly in horses. The specific variant identified in the gene is suspected to be connected with the occurrence of the condition.
  • However, the authors note that further research is necessary to confidently establish a direct relationship between this gene variant and polydactyly in horses.

Cite This Article

APA
Luan Y, Zhong L, Li C, Yue X, Ye M, Wang J, Zhu Y, Wang Q. (2024). A dominant missense variant within LMBR1 related to equine polydactyly. Commun Biol, 7(1), 1420. https://doi.org/10.1038/s42003-024-07065-w

Publication

Communications biology
ISSN: 2399-3642
NlmUniqueID: 101719179
Country: England
Language: English
Volume: 7
Issue: 1
Pages: 1420
PII: 1420

Researcher Affiliations

Luan, Yue
  • 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.
Zhong, Ling
  • 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.
Li, Cao
  • 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.
Yue, Xiaoyu
  • 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.
Ye, Mengyan
  • 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.
Wang, Jianpeng
  • 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.
Zhu, Yiping
  • College of Veterinary Medicine, China Agricultural University, Beijing, China.
Wang, Qin
  • 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. wangqin@cau.edu.cn.

MeSH Terms

  • Horses / genetics
  • Animals
  • Polydactyly / genetics
  • Polydactyly / veterinary
  • Mutation, Missense
  • Male
  • Horse Diseases / genetics
  • Genes, Dominant
  • Female
  • Apoptosis / genetics

Grant Funding

  • 202303010411070 / National Natural Science Foundation of China (National Science Foundation of China)

Conflict of Interest Statement

The authors declare no competing interests.

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