One Health horsepower in hemostasis: SEL1Lecting stable platelet adhesion.

Area of Science:

• Comparative biology
• Genomics
• Platelet biology

Background:

• Comparative biology has been crucial for understanding thrombosis and hemostasis.
• Previous research has laid the groundwork for investigating genetic factors in hemostasis.

Purpose of the Study:

• To identify genetic variants associated with rare platelet disorders.
• To explore the conserved function of SEL1L across species in platelet biology.
• To investigate the role of SEL1L in human bleeding phenotypes.

Main Methods:

• Multispecies investigation of protein function.
• Genomic exploration and variant identification.
• Genome-Wide Association Studies (GWAS) in humans.

Main Results:

• Pathogenic variants in the SEL1L gene were identified in horses with a rare platelet disorder.
• SEL1L was found to have a conserved role in platelet function across zebrafish, mice, and humans.
• Evidence suggests an association between SEL1L variants and bleeding phenotypes in human GWAS.

Conclusions:

• SEL1L is a previously unrecognized component of platelet function.
• The findings provide a basis for understanding certain human bleeding disorders.
• Integrative and collaborative research approaches are valuable for scientific discovery.