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Refining selection signals in dairy sheep using high-density genotyping data
Slim Ben Jemaa1,2, Gabriele Senczuk3, Corrado Dimauro4
1Dipartimento di Scienze Agrarie, Alimentari e Forestali, University of Palermo, Palermo, 90128, Italy.
Journal of Animal Science
|February 22, 2026
Summary
High-density genotyping refined selection signals in mountain sheep ecotypes, identifying genes for adaptation to high altitudes. These findings confirm previous studies and highlight parallel evolutionary paths in Sarda and Valle del Belice sheep.
Area of Science:
- Animal Genetics
- Evolutionary Biology
- Genomics
Background:
- Previous medium-density SNP chip analysis identified broad genomic regions under selection in Sarda and Valle del Belice sheep ecotypes.
- Focus on altitudinal adaptation, particularly in mountain ecotypes, necessitates validation and refinement of these candidate regions.
Purpose of the Study:
- To validate and refine candidate regions under selection using high-density genotyping data.
- To identify specific adaptive genes and variants in mountain sheep ecotypes.
- To investigate parallel adaptation mechanisms in different sheep breeds.
Main Methods:
- High-density genotyping of independent animal cohorts.
- Joint and between-ecotype comparative genomic analyses.
- Identification and characterization of genetic variants within candidate genes.
Main Results:
- Confirmed selection signals on specific chromosomes (19, X in Sarda; 3 in Valle del Belice).
- Identified candidate genes (e.g., KDM6A, KCNA5, KCNA6, GALNT8) linked to stress response, electrophysiology, and immune regulation.
- Refined selection signals in mountain ecotypes, revealing variants in genes related to neuroendocrine, cardiovascular, immune, and respiratory systems.
Conclusions:
- High-density data corroborate and refine previous selection signal findings.
- Identified genes and variants provide insights into multifaceted adaptations to mountainous environments.
- Convergent biological pathways suggest parallel adaptive evolution in Sarda and Valle del Belice sheep mountain ecotypes.

