Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci

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dc.citation.issue1
dc.citation.volume54
dc.contributor.authorReynolds EGM
dc.contributor.authorLopdell T
dc.contributor.authorWang Y
dc.contributor.authorTiplady KM
dc.contributor.authorHarland CS
dc.contributor.authorJohnson TJJ
dc.contributor.authorNeeley C
dc.contributor.authorCarnie K
dc.contributor.authorSherlock RG
dc.contributor.authorCouldrey C
dc.contributor.authorDavis SR
dc.contributor.authorHarris BL
dc.contributor.authorSpelman RJ
dc.contributor.authorGarrick DJ
dc.contributor.authorLittlejohn MD
dc.coverage.spatialFrance
dc.date.accessioned2024-08-30T03:00:32Z
dc.date.available2024-08-30T03:00:32Z
dc.date.issued2022-12
dc.description.abstractBACKGROUND: Deleterious recessive conditions have been primarily studied in the context of Mendelian diseases. Recently, several deleterious recessive mutations with large effects were discovered via non-additive genome-wide association studies (GWAS) of quantitative growth and developmental traits in cattle, which showed that quantitative traits can be used as proxies of genetic disorders when such traits are indicative of whole-animal health status. We reasoned that lactation traits in cattle might also reflect genetic disorders, given the increased energy demands of lactation and the substantial stresses imposed on the animal. In this study, we screened more than 124,000 cows for recessive effects based on lactation traits. RESULTS: We discovered five novel quantitative trait loci (QTL) that are associated with large recessive impacts on three milk yield traits, with these loci presenting missense variants in the DOCK8, IL4R, KIAA0556, and SLC25A4 genes or premature stop variants in the ITGAL, LRCH4, and RBM34 genes, as candidate causal mutations. For two milk composition traits, we identified several previously reported additive QTL that display small dominance effects. By contrasting results from milk yield and milk composition phenotypes, we note differing genetic architectures. Compared to milk composition phenotypes, milk yield phenotypes had lower heritabilities and were associated with fewer additive QTL but had a higher non-additive genetic variance and were associated with a higher proportion of loci exhibiting dominance. CONCLUSIONS: We identified large-effect recessive QTL which are segregating at surprisingly high frequencies in cattle. We speculate that the differences in genetic architecture between milk yield and milk composition phenotypes derive from underlying dissimilarities in the cellular and molecular representation of these traits, with yield phenotypes acting as a better proxy of underlying biological disorders through presentation of a larger number of major recessive impacts.
dc.description.confidentialfalse
dc.edition.editionDecember 2022
dc.format.pagination5-
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/35073835
dc.identifier.citationReynolds EGM, Lopdell T, Wang Y, Tiplady KM, Harland CS, Johnson TJJ, Neeley C, Carnie K, Sherlock RG, Couldrey C, Davis SR, Harris BL, Spelman RJ, Garrick DJ, Littlejohn MD. (2022). Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci.. Genet Sel Evol. 54. 1. (pp. 5-).
dc.identifier.doi10.1186/s12711-021-00694-3
dc.identifier.eissn1297-9686
dc.identifier.elements-typejournal-article
dc.identifier.issn0999-193X
dc.identifier.numberARTN 5
dc.identifier.pii10.1186/s12711-021-00694-3
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/71401
dc.languageeng
dc.publisherBioMed Central Ltd
dc.publisher.urihttps://gsejournal.biomedcentral.com/articles/10.1186/s12711-021-00694-3
dc.relation.isPartOfGenet Sel Evol
dc.rights(c) 2022 The Author/s
dc.rightsCC BY 4.0
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectAnimals
dc.subjectCattle
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.subjectLactation
dc.subjectMilk
dc.subjectPhenotype
dc.subjectQuantitative Trait Loci
dc.titleNon-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci
dc.typeJournal article
pubs.elements-id450786
pubs.organisational-groupOther
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