{"entity": "researcher", "timestamp": "2026-08-20T21:45:06.431Z", "family": "Letko", "given": "Anna", "initials": "A", "orcid": "0000-0002-6521-1285", "affiliations": ["Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.", "Dermfocus, University of Bern, Bern, Switzerland."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/73645c57be3244ddb773d7c72ff8c7e8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/73645c57be3244ddb773d7c72ff8c7e8"}}, "publications": [{"entity": "publication", "iuid": "c37c452543f54547a83fb9fcd40b5eef", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c37c452543f54547a83fb9fcd40b5eef.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c37c452543f54547a83fb9fcd40b5eef"}}, "title": "Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus.", "authors": [{"family": "Letko", "given": "Anna", "initials": "A", "orcid": "0000-0002-6521-1285", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/73645c57be3244ddb773d7c72ff8c7e8.json"}}, {"family": "Minor", "given": "Katie M", "initials": "KM", "orcid": "0000-0002-5472-5088", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/898c5d6ebc9a41279b0be28ccd9babb6.json"}}, {"family": "Norton", "given": "Elaine M", "initials": "EM", "orcid": "0000-0001-9450-2893", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5ae49124c2af4e73a83ea38640b5cc7c.json"}}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Dr\u00f6gem\u00fcller", "given": "Michaela", "initials": "M"}, {"family": "Ivansson", "given": "Emma", "initials": "E", "orcid": "0000-0002-4630-1576", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bbbc77e3f9694f068f5f4c4eb1e11d88.json"}}, {"family": "Megquier", "given": "Kate", "initials": "K"}, {"family": "Noh", "given": "Hyun Ji", "initials": "HJ", "orcid": "0000-0002-6634-0599", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/159b936128f7496191354f9f06b88ffd.json"}}, {"family": "Starkey", "given": "Mike", "initials": "M"}, {"family": "Friedenberg", "given": "Steven G", "initials": "SG", "orcid": "0000-0002-7510-2322", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c530c0937b3d4df3a028905e6a2c7420.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Mickelson", "given": "James R", "initials": "JR"}, {"family": "Dr\u00f6gem\u00fcller", "given": "Cord", "initials": "C", "orcid": "0000-0001-9773-522X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe49a28e95b3424594f4282277709507.json"}}], "type": "journal article", "published": "2021-12-09", "journal": {"title": "Genes (Basel)", "issn": "2073-4425", "volume": "12", "issue": "12", "issn-l": "2073-4425"}, "abstract": "Dogs represent a unique spontaneous cancer model. Osteosarcoma (OSA) is the most common primary bone tumor in dogs (OMIA 001441-9615), and strongly resembles human forms of OSA. Several large- to giant-sized dog breeds, including the Leonberger, have a greatly increased risk of developing OSA. We performed genome-wide association analysis with high-density imputed SNP genotype data from 273 Leonberger cases with a median age of 8.1 [3.1-13.5] years and 365 controls older than eight years. This analysis revealed significant associations at the CDKN2A/B gene locus on canine chromosome 11, mirroring previous findings in other dog breeds, such as the greyhound, that also show an elevated risk for OSA. Heritability (h2SNP) was determined to be 20.6% (SE = 0.08; p-value = 5.7 \u00d7 10-4) based on a breed prevalence of 20%. The 2563 SNPs across the genome accounted for nearly all the h2SNP of OSA, with 2183 SNPs of small effect, 316 SNPs of moderate effect, and 64 SNPs of large effect. As with many other cancers it is likely that regulatory, non-coding variants underlie the increased risk for cancer development. Our findings confirm a complex genetic basis of OSA, moderate heritability, and the crucial role of the CDKN2A/B locus leading to strong cancer predisposition in dogs. It will ultimately be interesting to study and compare the known genetic loci associated with canine OSA in human OSA.", "doi": "10.3390/genes12121964", "pmid": "34946912", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8700858"}, {"db": "pii", "key": "genes12121964"}], "notes": [], "created": "2026-08-20T13:40:52.421Z", "modified": "2026-08-20T13:40:52.630Z"}, {"entity": "publication", "iuid": "6da81168e6034c8bbf483cd2f5815fa3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6da81168e6034c8bbf483cd2f5815fa3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6da81168e6034c8bbf483cd2f5815fa3"}}, "title": "Dog colour patterns explained by modular promoters of ancient canid origin.", "authors": [{"family": "Bannasch", "given": "Danika L", "initials": "DL", "orcid": "0000-0002-7614-7207", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/880607c44d30499494fe8a4dc49c1637.json"}}, {"family": "Kaelin", "given": "Christopher B", "initials": "CB"}, {"family": "Letko", "given": "Anna", "initials": "A", "orcid": "0000-0002-6521-1285", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/73645c57be3244ddb773d7c72ff8c7e8.json"}}, {"family": "Loechel", "given": "Robert", "initials": "R"}, {"family": "Hug", "given": "Petra", "initials": "P"}, {"family": "Jagannathan", "given": "Vidhya", "initials": "V", "orcid": "0000-0002-8155-0041", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61e55b7d7ff44bfa8c602463aff78927.json"}}, {"family": "Henkel", "given": "Jan", "initials": "J", "orcid": "0000-0003-3798-5977", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a3f0518331c04cf5874d4d908d1de765.json"}}, {"family": "Roosje", "given": "Petra", "initials": "P", "orcid": "0000-0002-8873-0256", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/19ad5f8c1a6d431f9f1ed787a99ca2de.json"}}, {"family": "Hyt\u00f6nen", "given": "Marjo K", "initials": "MK", "orcid": "0000-0003-1976-5874", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e1389bbb3ba141598a0a896b056dea89.json"}}, {"family": "Lohi", "given": "Hannes", "initials": "H", "orcid": "0000-0003-1087-5532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25.json"}}, {"family": "Arumilli", "given": "Meharji", "initials": "M"}, {"family": "DoGA consortium", "given": "", "initials": ""}, {"family": "Minor", "given": "Katie M", "initials": "KM"}, {"family": "Mickelson", "given": "James R", "initials": "JR"}, {"family": "Dr\u00f6gem\u00fcller", "given": "Cord", "initials": "C", "orcid": "0000-0001-9773-522X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe49a28e95b3424594f4282277709507.json"}}, {"family": "Barsh", "given": "Gregory S", "initials": "GS", "orcid": "0000-0002-0838-1042", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5804d1258d514d64a7e7d22f6fa4b6c5.json"}}, {"family": "Leeb", "given": "Tosso", "initials": "T", "orcid": "0000-0003-0553-4880", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8b9a5b55628740d99bdb37372a1c37b3.json"}}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "Nat Ecol Evol", "issn": "2397-334X", "volume": "5", "issue": "10", "pages": "1415-1423", "issn-l": "2397-334X"}, "abstract": "Distinctive colour patterns in dogs are an integral component of canine diversity. Colour pattern differences are thought to have arisen from mutation and artificial selection during and after domestication from wolves but important gaps remain in understanding how these patterns evolved and are genetically controlled. In other mammals, variation at the ASIP gene controls both the temporal and spatial distribution of yellow and black pigments. Here, we identify independent regulatory modules for ventral and hair cycle ASIP expression, and we characterize their action and evolutionary origin. Structural variants define multiple alleles for each regulatory module and are combined in different ways to explain five distinctive dog colour patterns. Phylogenetic analysis reveals that the haplotype combination for one of these patterns is shared with Arctic white wolves and that its hair cycle-specific module probably originated from an extinct canid that diverged from grey wolves more than 2 million years ago. Natural selection for a lighter coat during the Pleistocene provided the genetic framework for widespread colour variation in dogs and wolves.", "doi": "10.1038/s41559-021-01524-x", "pmid": "34385618", "labels": [], "xrefs": [{"db": "mid", "key": "EMS129587"}, {"db": "pmc", "key": "PMC8484016"}, {"db": "pii", "key": "10.1038/s41559-021-01524-x"}], "notes": [], "created": "2026-08-20T08:55:08.229Z", "modified": "2026-08-20T08:55:08.700Z"}]}