ArticleGenetics, selection, evolution : GSE2026
Genomic dissection of hoof and leg conformation in Swiss dairy cattle populations reveals polygenic architecture and a recessive HYAL1 nonsense variant affecting longevity in Holstein cattle.
Article in Genetics, selection, evolution : GSE, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThe genetic architecture of bovine hoof and leg conformation traits remains incompletely understood, particularly in dairy cattle and with respect to non-additive effects. Moreover, the limited genetic resolution of previous studies hampered the identification of candidate variants. This study aimed to investigate traits in Swiss Holstein (HO) and Brown Swiss (BS), comprising bone structure, heel depth, foot angle, locomotion, rear leg rear view, and rear leg set in HO, and heel depth, foot angle, hock quality, and rear leg side view in BS, by (1) estimating trait heritabilities, (2) identifying QTL using additive and non-additive GWAS based on imputed whole-genome sequence (WGS) variants, (3) detecting candidate genes and variants using Bayesian fine-mapping, (4) assessing the effects of the recessive HYAL1 on conformation, longevity, and production traits in French HO, and (5) clinically characterizing HYAL1-homozygous HO.
resultsHeritability estimates ranged from 0.10 to 0.28 in HO and from 0.10 to 0.26 in BS. Additive and non-additive GWAS detected 25 significant associated regions (P ≤ 5 × 10
conclusionsThis study indicates a predominantly polygenic architecture of hoof and leg conformation traits in HO and BS cattle and show that integrating imputed WGS data with non-additive analyses of proxy phenotypes improves the detection and refinement of QTL and candidate variants. In particular, the identification of a recessive HYAL1 nonsense variant associated with bone structure in HO uncovered a hidden Mendelian disorder.
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