Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds

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dc.citation.issue5
dc.citation.volume56
dc.contributor.authorSmith F
dc.contributor.authorLopdell T
dc.contributor.authorStephen M
dc.contributor.authorHenry M
dc.contributor.authorDittmer K
dc.contributor.authorHunt H
dc.contributor.authorSneddon N
dc.contributor.authorWilliams L
dc.contributor.authorRolfe J
dc.contributor.authorGarrick D
dc.contributor.authorLittlejohn MD
dc.date.accessioned2025-10-03T00:58:20Z
dc.date.available2025-10-03T00:58:20Z
dc.date.issued2025-10-01
dc.description.abstractNew Zealand (NZ) Huntaway and Heading dogs are working breeds that play active roles on farms across NZ. While these breeds are common in NZ, they are not well-known elsewhere, and little is understood about their genetic make-up. Here, we used whole genome sequencing to provide a comprehensive genomic view of 249 working dogs. As first use of this resource, we report the allele frequencies of provisionally functional variants aggregated from the Online Mendelian Inheritance in Animals (OMIA) database. Of 435 “probably causal” variants, 27 segregated in our sample. Notable examples of disease variants potentially actionable for selection include those in the CUBN, CLN8, SGSH, SOD1, VWF, and VPS13B genes. These findings will enable genetic testing and selection opportunities to help improve the health and performance of future generations of these unique breeds.
dc.description.confidentialfalse
dc.edition.editionOctober 2025
dc.identifier.citationSmith F, Lopdell T, Stephen M, Henry M, Dittmer K, Hunt H, Sneddon N, Williams L, Rolfe J, Garrick D, Littlejohn MD. (2025). Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Animal Genetics. 56. 5.
dc.identifier.doi10.1111/age.70042
dc.identifier.eissn1365-2052
dc.identifier.elements-typejournal-article
dc.identifier.issn0268-9146
dc.identifier.numbere70042
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/73643
dc.languageEnglish
dc.publisherJohn Wiley and Sons Ltd on behalf of Stichting International Foundation for Animal Genetics
dc.publisher.urihttps://onlinelibrary.wiley.com/doi/10.1111/age.70042
dc.relation.isPartOfAnimal Genetics
dc.rights(c) 2025 The Author/s
dc.rightsCC BY-NC 4.0
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/
dc.subjectbioinformatics
dc.subjectCanis lupus familiaris
dc.subjectHeading dog
dc.subjectHuntaway
dc.subjectMendelian genetics
dc.subjectwhole genome sequencing
dc.titleSurvey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds
dc.typeJournal article
pubs.elements-id503377
pubs.organisational-groupOther
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