{"entity": "researcher", "timestamp": "2026-09-23T15:25:30.197Z", "family": "Lindgren", "given": "Gabriella", "initials": "G", "orcid": "0000-0001-6046-9669", "affiliations": ["Department of Animal Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbbc07b4c1b748d19397ba491e42ddb5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbbc07b4c1b748d19397ba491e42ddb5"}}, "publications": [{"entity": "publication", "iuid": "b49a5cb9584c4ad88b58dec49da3184d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b49a5cb9584c4ad88b58dec49da3184d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b49a5cb9584c4ad88b58dec49da3184d"}}, "title": "An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.", "authors": [{"family": "Rubin", "given": "Carl-Johan", "initials": "CJ", "orcid": "0000-0001-8238-5052", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc83e7c8e44145778f170d3ac49c52a6.json"}}, {"family": "Hodge", "given": "McKaela", "initials": "M"}, {"family": "Naboulsi", "given": "Rakan", "initials": "R"}, {"family": "Beckman", "given": "Madeleine", "initials": "M"}, {"family": "Bellone", "given": "Rebecca R", "initials": "RR", "orcid": "0000-0001-8838-7227", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b2deda0e701e4c8d99d510cd021ccb7e.json"}}, {"family": "Kallenberg", "given": "Angelica", "initials": "A", "orcid": "0000-0001-7993-6597", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d712bf381fec4f97a1a859c1fd39c1bd.json"}}, {"family": "J'Usrey", "given": "Stephanie", "initials": "S"}, {"family": "Ohmura", "given": "Hajime", "initials": "H"}, {"family": "Seki", "given": "Kazuhiro", "initials": "K"}, {"family": "Furukawa", "given": "Risako", "initials": "R", "orcid": "0009-0002-4673-0845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e445841ecbf42b59dcc2d240262d0c6.json"}}, {"family": "Ohnuma", "given": "Aoi", "initials": "A"}, {"family": "Davis", "given": "Brian W", "initials": "BW", "orcid": "0000-0002-6121-135X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/860474a0b2384119b8c9da985ca7ea93.json"}}, {"family": "Tozaki", "given": "Teruaki", "initials": "T", "orcid": "0000-0001-8797-6644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe01187f389c4815b2d2883ac6a06d7e.json"}}, {"family": "Lindgren", "given": "Gabriella", "initials": "G", "orcid": "0000-0001-6046-9669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbbc07b4c1b748d19397ba491e42ddb5.json"}}, {"family": "Andersson", "given": "Leif", "initials": "L", "orcid": "0000-0002-4085-6968", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7c8202937eda401fa0d07f583589359d.json"}}], "type": "journal article", "published": "2024-08-29", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "15", "issue": "1", "pages": "7510", "issn-l": "2041-1723"}, "abstract": "The Greying with age phenotype in horses involves loss of hair pigmentation whereas skin pigmentation is not reduced, and a predisposition to melanoma. The causal mutation was initially reported as a duplication of a 4.6 kb intronic sequence in Syntaxin 17. The speed of greying varies considerably among Grey horses. Here we demonstrate the presence of two different Grey alleles, G2 carrying two tandem copies of the duplicated sequence and G3 carrying three. The latter is by far the most common allele, probably due to strong selection for the striking white phenotype. Our results reveal a remarkable dosage effect where the G3 allele is associated with fast greying and high incidence of melanoma whereas G2 is associated with slow greying and low incidence of melanoma. The copy number expansion transforms a weak enhancer to a strong melanocyte-specific enhancer that underlies hair greying (G2 and G3) and a drastically elevated risk of melanoma (G3 only). Our direct pedigree-based observation of the origin of a G2 allele from a G3 allele by copy number contraction demonstrates the dynamic evolution of this locus and provides the ultimate evidence for causality of the copy number variation of the 4.6 kb intronic sequence.", "doi": "10.1038/s41467-024-51898-2", "pmid": "39209879", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11362437"}, {"db": "pii", "key": "10.1038/s41467-024-51898-2"}], "notes": [], "created": "2026-09-23T11:31:42.843Z", "modified": "2026-09-23T11:31:43.146Z"}, {"entity": "publication", "iuid": "1227d2abecd0417888f69f4cac823676", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1227d2abecd0417888f69f4cac823676.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1227d2abecd0417888f69f4cac823676"}}, "title": "An endothelial regulatory module links blood pressure regulation with elite athletic performance.", "authors": [{"family": "Fegraeus", "given": "Kim", "initials": "K", "orcid": "0000-0002-6428-3420", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/233daf3145f340a6be6bf209e171f36d.json"}}, {"family": "Rosengren", "given": "Maria K", "initials": "MK", "orcid": "0000-0003-0144-7034", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd5d1d3d7956425fb44ca39742b841e4.json"}}, {"family": "Naboulsi", "given": "Rakan", "initials": "R", "orcid": "0000-0002-3610-4341", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8a5671d50ba84626a8395e2000d85b09.json"}}, {"family": "Orlando", "given": "Ludovic", "initials": "L"}, {"family": "\u00c5brink", "given": "Magnus", "initials": "M", "orcid": "0000-0002-1335-3927", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b70bfbd034d844ff922e4cd6b610fe4e.json"}}, {"family": "Jouni", "given": "Ahmad", "initials": "A"}, {"family": "Velie", "given": "Brandon D", "initials": "BD"}, {"family": "Raine", "given": "Amanda", "initials": "A"}, {"family": "Egner", "given": "Beate", "initials": "B"}, {"family": "Mattsson", "given": "C Mikael", "initials": "CM", "orcid": "0000-0002-0642-4838", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e155297705874d2ca80428c10629e096.json"}}, {"family": "L\u00e5ng", "given": "Karin", "initials": "K"}, {"family": "Zhigulev", "given": "Artemy", "initials": "A", "orcid": "0000-0001-9251-1059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8432787219be4e4a894210d21e1a4640.json"}}, {"family": "Bj\u00f6rck", "given": "Hanna M", "initials": "HM", "orcid": "0000-0002-9155-3609", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e3601d62107f4fe3a33da28651e0cf37.json"}}, {"family": "Franco-Cereceda", "given": "Anders", "initials": "A"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Andersson", "given": "G\u00f6ran", "initials": "G", "orcid": "0000-0001-5131-3144", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/52a4de0ac8e245919d68e7d96dd49914.json"}}, {"family": "Sahl\u00e9n", "given": "Pelin", "initials": "P", "orcid": "0000-0001-6943-9618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6.json"}}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Lindgren", "given": "Gabriella", "initials": "G", "orcid": "0000-0001-6046-9669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbbc07b4c1b748d19397ba491e42ddb5.json"}}], "type": "journal article", "published": "2024-06-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "20", "issue": "6", "pages": "e1011285", "issn-l": "1553-7390"}, "abstract": "The control of transcription is crucial for homeostasis in mammals. A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate regulatory region 50 kb downstream of the Endothelin3 (EDN3) gene. Here, the region was narrowed to a 5.5 kb span of 14 SNVs, with elite and sub-elite haplotypes analyzed for association to racing performance, blood pressure and plasma levels of EDN3 in Coldblooded trotters and Standardbreds. Comparative analysis of human HiCap data identified the span as an enhancer cluster active in endothelial cells, interacting with genes relevant to blood pressure regulation. Coldblooded trotters with the sub-elite haplotype had significantly higher blood pressure compared to horses with the elite performing haplotype during exercise. Alleles within the elite haplotype were part of the standing variation in pre-domestication horses, and have risen in frequency during the era of breed development and selection. These results advance our understanding of the molecular genetics of athletic performance and vascular traits in both horses and humans.", "doi": "10.1371/journal.pgen.1011285", "pmid": "38885195", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11182536"}, {"db": "pii", "key": "PGENETICS-D-23-00898"}], "notes": [], "created": "2026-09-23T12:29:28.283Z", "modified": "2026-09-23T12:29:28.495Z"}]}