{"entity": "researcher", "timestamp": "2026-08-20T21:34:54.993Z", "family": "Lohi", "given": "Hannes", "initials": "H", "orcid": "0000-0003-1087-5532", "affiliations": ["Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.", "Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.", "Folkh\u00e4lsan Research Center, Helsinki, Finland."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25"}}, "publications": [{"entity": "publication", "iuid": "45034dc905894a968f13165a7fb6da38", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/45034dc905894a968f13165a7fb6da38.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/45034dc905894a968f13165a7fb6da38"}}, "title": "A genotype-first approach identifies variants for orofacial clefts and other phenotypes in dogs", "authors": [{"family": "Buckley", "given": "Reuben M", "initials": "RM", "orcid": "0000-0001-6334-3906", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/52f6dd32f4b9457b82e1f381b36657f8.json"}}, {"family": "Bilgen", "given": "N\u00fcket", "initials": "N", "orcid": "0000-0003-2324-7965", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d0384ead4df244eb80d14169a490bf00.json"}}, {"family": "Harris", "given": "Alexander C", "initials": "AC", "orcid": "0000-0002-6868-5363", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b30f17aba31406f9f269364f4cc7507.json"}}, {"family": "Savolainen", "given": "Peter", "initials": "P", "orcid": "0000-0002-1495-8338", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06353af3236049c4988c0bb038443a96.json"}}, {"family": "Tepeli", "given": "Cafer", "initials": "C", "orcid": "0000-0003-2966-8330", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7a64bd5104e7437597d83f79b392a658.json"}}, {"family": "Erdo\u011fan", "given": "Metin", "initials": "M", "orcid": "0000-0003-0975-1989", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b69024cbcd6a43388d68334e4c1ff53b.json"}}, {"family": "Serres Armero", "given": "Aitor", "initials": "A", "orcid": "0000-0003-1679-811X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b9159577d74f82b994a9cb4173dcf7.json"}}, {"family": "Dreger", "given": "Dayna L", "initials": "DL", "orcid": "0000-0002-3218-6431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f04c711b23574b609eba09b079154b85.json"}}, {"family": "van Steenbeek", "given": "Frank G", "initials": "FG", "orcid": "0000-0001-5460-6540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fea55ade027841aa8e622837625b91de.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": "Hale", "given": "Jessica", "initials": "J", "orcid": "0009-0008-4953-9556", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1429245917cb4f05b627597a231b7bbd.json"}}, {"family": "Lohi", "given": "Hannes", "initials": "H", "orcid": "0000-0003-1087-5532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25.json"}}, {"family": "\u00c7\u0131nar Kul", "given": "Bengi", "initials": "B", "orcid": "0000-0002-8955-0097", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e22630dd39644dda3f6566cacc82240.json"}}, {"family": "Boyko", "given": "Adam R", "initials": "AR", "orcid": "0000-0002-9125-6874", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/93514d8cc7b945619ed50443e7ca6030.json"}}, {"family": "Ostrander", "given": "Elaine A", "initials": "EA", "orcid": "0000-0001-6075-9738", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb08ca2565ce45c9adfa484cf60b2909.json"}}], "type": "posted-content", "published": "2024-10-04", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2024.10.04.616687", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:58:48.087Z", "modified": "2026-08-20T10:58:48.656Z"}, {"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"}, {"entity": "publication", "iuid": "6fd33e86eb9d4788b90dee7f6fe58e7f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6fd33e86eb9d4788b90dee7f6fe58e7f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6fd33e86eb9d4788b90dee7f6fe58e7f"}}, "title": "A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.", "authors": [{"family": "Kaukonen", "given": "Maria", "initials": "M", "orcid": "0000-0002-2146-4694", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2afae3aaa8d244acbf8dc5388141bcb1.json"}}, {"family": "Quintero", "given": "Ileana B", "initials": "IB"}, {"family": "Mukarram", "given": "Abdul Kadir", "initials": "AK", "orcid": "0000-0002-9726-0399", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/65c7a0a3235f4a44b879d7b273a19daf.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": "Holopainen", "given": "Saila", "initials": "S", "orcid": "0000-0002-2448-7672", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5c4cb476c0a540eb96e58ffb874bf15f.json"}}, {"family": "Wickstr\u00f6m", "given": "Kaisa", "initials": "K", "orcid": "0000-0003-4168-9951", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc877dd4adf9486d8eb8bb1ba6e5eff8.json"}}, {"family": "Ky\u00f6stil\u00e4", "given": "Kaisa", "initials": "K"}, {"family": "Arumilli", "given": "Meharji", "initials": "M", "orcid": "0000-0003-4072-0996", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eefc37ebb7b841e497e93a14bd4b1fec.json"}}, {"family": "Jalom\u00e4ki", "given": "Sari", "initials": "S", "orcid": "0000-0003-0755-0948", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c0ce8ddc53c342d69ae1c12550fa7cd0.json"}}, {"family": "Daub", "given": "Carsten O", "initials": "CO", "orcid": "0000-0002-3295-8729", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/779af7484e984ad6883a105caa008313.json"}}, {"family": "Kere", "given": "Juha", "initials": "J"}, {"family": "Lohi", "given": "Hannes", "initials": "H", "orcid": "0000-0003-1087-5532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25.json"}}, {"family": "DoGA Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "16", "issue": "3", "pages": "e1008659", "issn-l": "1553-7390"}, "abstract": "Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected worldwide. Many genes have been implicated in RP, yet in 30-80% of the RP patients the genetic cause remains unknown. A similar phenotype, progressive retinal atrophy (PRA), affects many dog breeds including the Miniature Schnauzer. We performed clinical, genetic and functional experiments to identify the genetic cause of PRA in the breed. The age of onset and pattern of disease progression suggested that at least two forms of PRA, types 1 and 2 respectively, affect the breed, which was confirmed by genome-wide association study that implicated two distinct genomic loci in chromosomes 15 and X, respectively. Whole-genome sequencing revealed a fully segregating recessive regulatory variant in type 1 PRA. The associated variant has a very recent origin based on haplotype analysis and lies within a regulatory site with the predicted binding site of HAND1::TCF3 transcription factor complex. Luciferase assays suggested that mutated regulatory sequence increases expression. Case-control retinal expression comparison of six best HAND1::TCF3 target genes were analyzed with quantitative reverse-transcriptase PCR assay and indicated overexpression of EDN2 and COL9A2 in the affected retina. Defects in both EDN2 and COL9A2 have been previously associated with retinal degeneration. In summary, our study describes two genetically different forms of PRA and identifies a fully penetrant variant in type 1 form with a possible regulatory effect. This would be among the first reports of a regulatory variant in retinal degeneration in any species, and establishes a new spontaneous dog model to improve our understanding of retinal biology and gene regulation while the affected breed will benefit from a reliable genetic testing.", "doi": "10.1371/journal.pgen.1008659", "pmid": "32150541", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7082071"}, {"db": "pii", "key": "PGENETICS-D-19-00950"}], "notes": [], "created": "2026-08-20T12:43:42.026Z", "modified": "2026-08-20T12:43:42.286Z"}]}