{"entity": "researcher", "timestamp": "2026-08-20T20:47:16.857Z", "family": "Wade", "given": "C M", "initials": "CM", "orcid": "0000-0003-3413-4771", "affiliations": ["Faculty of Science, University of Sydney, Camperdown, 2006, NSW, Australia."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/52762b18778646188950c4e166b9000b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/52762b18778646188950c4e166b9000b"}}, "publications": [{"entity": "publication", "iuid": "9257d94ba3174df58083957f7b95049c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9257d94ba3174df58083957f7b95049c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9257d94ba3174df58083957f7b95049c"}}, "title": "Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6.", "authors": [{"family": "Wade", "given": "Claire M", "initials": "CM", "orcid": "0000-0003-3413-4771", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/52762b18778646188950c4e166b9000b.json"}}, {"family": "Burmeister", "given": "Louise M", "initials": "LM"}, {"family": "Skelly", "given": "Barbara J", "initials": "BJ"}, {"family": "McLaughlin", "given": "Bryan", "initials": "B"}, {"family": "Pettitt", "given": "Louise", "initials": "L"}, {"family": "Atwater", "given": "Daniel Z", "initials": "DZ"}, {"family": "Tallmadge", "given": "Rebecca L", "initials": "RL"}, {"family": "Lejeune", "given": "Manigandan", "initials": "M"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Mellersh", "given": "Cathryn S", "initials": "CS", "orcid": "0000-0002-2336-0370", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/84435d542346461492e4fe9cda2a0cb0.json"}}], "type": "journal article", "published": "2025-12-00", "journal": {"title": "Anim. Genet.", "issn": "1365-2052", "volume": "56", "issue": "6", "pages": "e70056", "issn-l": "0268-9146"}, "abstract": "Primary hyperparathyroidism (PHPT) is an inherited disorder that leads to inappropriate secretion of parathyroid hormone by neoplastic parathyroid cells. Dogs of the Keeshond breed are predisposed to adenomas or hyperplasia of the parathyroid that lead to PHPT. The disorder is inherited in a dominant Mendelian fashion with a high age-related penetrance. The age of onset in PHPT-affected Keeshonden is typically later than 8 years. Genome-wide association studies with 27 affected and 42 unaffected Keeshonden genotyped with 30 896 markers identified a region of strong association with the PHPT phenotype on canine chromosome 20. The most significant array marker was NC_049241.1.g.55977819 C>G. The strength of association of this region with the case phenotype was unique in the genome and concordant with the hypothesis of dominant inheritance (i.e. all case animals in the genome-wide association studies were heterozygous for the most associated variant). Fine-scale variant analysis in the region of association revealed a mutation that creates both a missense and a possible splice-site variant within exon 2 of the gene SIRT6 (NC_049241.1g.55817330A>G; XM_038567756.1.c.193A>G; XP_038423684.1.p.65R>G). The variant appears uniquely within affected dogs when compared with 1987 other genotyped samples in the public domain. Strong concordance was observed between genotypes for the variant in SIRT6 and a promoter variant in eukaryotic elongation factor 2 (NC_049241.1.g. 55973578_55973593dupinsN[180]) used for disorder testing in the USA since 2008. Based on the absence of the SIRT6 variant in any healthy dog and modelled functional behaviour of the variant we conclude that the SIRT6 variant is probably pathogenic for PHPT.", "doi": "10.1111/age.70056", "pmid": "41134522", "labels": [], "xrefs": [{"db": "RefSeq", "key": "PQ793767"}, {"db": "RefSeq", "key": "PQ793769"}], "notes": [], "created": "2026-08-20T11:17:15.905Z", "modified": "2026-08-20T11:17:15.980Z"}, {"entity": "publication", "iuid": "77706d575d34403782e2373041eacba1", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/77706d575d34403782e2373041eacba1.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/77706d575d34403782e2373041eacba1"}}, "title": "Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38.", "authors": [{"family": "Brancalion", "given": "L", "initials": "L"}, {"family": "Haase", "given": "B", "initials": "B"}, {"family": "Mazrier", "given": "H", "initials": "H"}, {"family": "Willet", "given": "C E", "initials": "CE"}, {"family": "Lindblad-Toh", "given": "K", "initials": "K"}, {"family": "Lingaas", "given": "F", "initials": "F"}, {"family": "Wade", "given": "C M", "initials": "CM", "orcid": "0000-0003-3413-4771", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/52762b18778646188950c4e166b9000b.json"}}], "type": "journal article", "published": "2021-04-00", "journal": {"title": "Anim. Genet.", "issn": "1365-2052", "volume": "52", "issue": "2", "pages": "198-207", "issn-l": "0268-9146"}, "abstract": "White coat patterning is a feature of many dog breeds and is known to be coded primarily by the gene micropthalmia-associated transcription factor (MITF). This patterning in the coat can be modified by other factors to produce the attractive phenotypes termed 'ticked' and 'roan' that describe the presence of flecks of color that vary in distribution and intensity within otherwise 'clear' white markings. The appearance of the pigment in the white patterning caused by ticking and roaning intensifies in the weeks after birth. We applied genome-wide association to compare English Cocker Spaniels of roan phenotype (N = 34) with parti-color (non-roan) English Cocker Spaniels (N = 9) and identified an associated locus on CFA 38, CFA38:11 057 040 (Praw = 8.9 \u00d7 10-10 , Pgenome = 2.7 \u00d7 10-5 ). A local case-control association in English Springer Spaniels comparing 11 ticked and six clear dogs identified indicative association with a different haplotype, CFA38:11 122 467G>T (Praw = 1.7 \u00d7 10-5 ) and CFA38:11 124 294A>C (Praw = 1.7 \u00d7 10-5 ). We characterize three haplotypes in Spaniels according to their putative functional variant profiles at CFA38:11 111 286C>T (missense), CFA38:11 131 841-11 143 239DUP.insTTAA (using strongly linked marker CFA38:11 143 243C>T) and CFA38:11 156 425T>C (splice site). In Spaniels, the haplotypes work as an allelic series including alleles (t, recessive clear; T, dominant ticked/parti-color; and TR , incomplete dominant roan) to control the appearance of pigmented spots or flecks in otherwise white areas of the canine coat. In Spaniels the associated haplotypes are t (CCT), T (TCC) and TR (TTT) for SNP markers on CFA38 at 11 111 286C>T, 11 143 243C>T and 11 156 425T>C respectively. It is likely that other alleles exist in this series and together the haplotypes result in a complex range of patterning that is only visible when dogs have white patterning resulting from the epistatic gene Micropthalmia-associated transcription factor (the S-locus).", "doi": "10.1111/age.13040", "pmid": "33539602", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7986734"}], "notes": [], "created": "2026-08-20T11:17:10.901Z", "modified": "2026-08-20T11:17:10.955Z"}]}