{"entity": "researcher", "timestamp": "2026-08-20T20:26:23.475Z", "family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "affiliations": ["Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242"}}, "publications": [{"entity": "publication", "iuid": "0d6c57232f734850b20ccda3e909d4ad", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0d6c57232f734850b20ccda3e909d4ad.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0d6c57232f734850b20ccda3e909d4ad"}}, "title": "Data from <i>SETD2</i> Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma", "authors": [{"family": "Sakthikumar", "given": "Sharadha", "initials": "S"}, {"family": "Elvers", "given": "Ingegerd", "initials": "I"}, {"family": "Kim", "given": "Jaegil", "initials": "J"}, {"family": "Arendt", "given": "Maja L", "initials": "ML"}, {"family": "Thomas", "given": "Rachael", "initials": "R", "orcid": "0000-0002-3029-8798", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7613e07c9b242748a912e2ab73a5542.json"}}, {"family": "Turner-Maier", "given": "Jason", "initials": "J"}, {"family": "Swofford", "given": "Ross", "initials": "R"}, {"family": "Johnson", "given": "Jeremy", "initials": "J"}, {"family": "Schumacher", "given": "Steven E", "initials": "SE"}, {"family": "Alf\u00f6ldi", "given": "Jessica", "initials": "J"}, {"family": "Axelsson", "given": "Erik", "initials": "E"}, {"family": "Couto", "given": "C Guillermo", "initials": "CG"}, {"family": "Kisseberth", "given": "William C", "initials": "WC"}, {"family": "Pettersson", "given": "Mats E", "initials": "ME"}, {"family": "Getz", "given": "Gad", "initials": "G"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Modiano", "given": "Jaime F", "initials": "JF"}, {"family": "Breen", "given": "Matthew", "initials": "M"}, {"family": "Kierczak", "given": "Marcin", "initials": "M"}, {"family": "Forsberg-Nilsson", "given": "Karin", "initials": "K"}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "posted-content", "published": "2023-03-31", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1158/0008-5472.c.6510633", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:03:29.875Z", "modified": "2026-08-20T12:03:29.975Z"}, {"entity": "publication", "iuid": "f7270a6b130547a1b1ff831ee95f58f7", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f7270a6b130547a1b1ff831ee95f58f7.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f7270a6b130547a1b1ff831ee95f58f7"}}, "title": "Data from <i>SETD2</i> Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma", "authors": [{"family": "Sakthikumar", "given": "Sharadha", "initials": "S"}, {"family": "Elvers", "given": "Ingegerd", "initials": "I"}, {"family": "Kim", "given": "Jaegil", "initials": "J"}, {"family": "Arendt", "given": "Maja L", "initials": "ML"}, {"family": "Thomas", "given": "Rachael", "initials": "R", "orcid": "0000-0002-3029-8798", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7613e07c9b242748a912e2ab73a5542.json"}}, {"family": "Turner-Maier", "given": "Jason", "initials": "J"}, {"family": "Swofford", "given": "Ross", "initials": "R"}, {"family": "Johnson", "given": "Jeremy", "initials": "J"}, {"family": "Schumacher", "given": "Steven E", "initials": "SE"}, {"family": "Alf\u00f6ldi", "given": "Jessica", "initials": "J"}, {"family": "Axelsson", "given": "Erik", "initials": "E"}, {"family": "Couto", "given": "C Guillermo", "initials": "CG"}, {"family": "Kisseberth", "given": "William C", "initials": "WC"}, {"family": "Pettersson", "given": "Mats E", "initials": "ME"}, {"family": "Getz", "given": "Gad", "initials": "G"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Modiano", "given": "Jaime F", "initials": "JF"}, {"family": "Breen", "given": "Matthew", "initials": "M"}, {"family": "Kierczak", "given": "Marcin", "initials": "M"}, {"family": "Forsberg-Nilsson", "given": "Karin", "initials": "K"}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "posted-content", "published": "2023-03-31", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1158/0008-5472.c.6510633.v1", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:10:26.411Z", "modified": "2026-08-20T12:10:26.430Z"}, {"entity": "publication", "iuid": "2c33ff0022514cc0a34221286892e5bb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2c33ff0022514cc0a34221286892e5bb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2c33ff0022514cc0a34221286892e5bb"}}, "title": "Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data.", "authors": [{"family": "Yones", "given": "Sara A", "initials": "SA", "orcid": "0000-0002-7201-2604", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1db6ae5db964f149ffc93ea78561711.json"}}, {"family": "Annett", "given": "Alva", "initials": "A"}, {"family": "Stoll", "given": "Patricia", "initials": "P"}, {"family": "Diamanti", "given": "Klev", "initials": "K", "orcid": "0000-0002-4922-8415", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8638ca04ea7f4ff8a191f3c6969b1394.json"}}, {"family": "Holmfeldt", "given": "Linda", "initials": "L", "orcid": "0000-0003-4140-3423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/13a857b0c5b64d10a8e3b6b70d4dc662.json"}}, {"family": "Barren\u00e4s", "given": "Carl Fredrik", "initials": "CF"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Komorowski", "given": "Jan", "initials": "J", "orcid": "0000-0002-0766-8789", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1dffb9dd373741069230b4f80d7e1698.json"}}], "type": "journal article", "published": "2022-05-06", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "12", "issue": "1", "pages": "7433", "issn-l": "2045-2322"}, "abstract": "Transcriptomic analyses are commonly used to identify differentially expressed genes between patients and controls, or within individuals across disease courses. These methods, whilst effective, cannot encompass the combinatorial effects of genes driving disease. We applied rule-based machine learning (RBML) models and rule networks (RN) to an existing paediatric Systemic Lupus Erythematosus (SLE) blood expression dataset, with the goal of developing gene networks to separate low and high disease activity (DA1 and DA3). The resultant model had an 81% accuracy to distinguish between DA1 and DA3, with unsupervised hierarchical clustering revealing additional subgroups indicative of the immune axis involved or state of disease flare. These subgroups correlated with clinical variables, suggesting that the gene sets identified may further the understanding of gene networks that act in concert to drive disease progression. This included roles for genes (i) induced by interferons (IFI35 and OTOF), (ii) key to SLE cell types (KLRB1 encoding CD161), or (iii) with roles in autophagy and NF-\u03baB pathway responses (CKAP4). As demonstrated here, RBML approaches have the potential to reveal novel gene patterns from within a heterogeneous disease, facilitating patient clinical and therapeutic stratification.", "doi": "10.1038/s41598-022-10853-1", "pmid": "35523803", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9076598"}, {"db": "pii", "key": "10.1038/s41598-022-10853-1"}], "notes": [], "created": "2026-08-20T09:23:25.514Z", "modified": "2026-08-20T09:23:25.697Z"}, {"entity": "publication", "iuid": "e5e18739a37347ed9d1925bb685bcaee", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e5e18739a37347ed9d1925bb685bcaee.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e5e18739a37347ed9d1925bb685bcaee"}}, "title": "Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data", "authors": [{"family": "Yones", "given": "Sara A", "initials": "SA", "orcid": "0000-0002-7201-2604", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1db6ae5db964f149ffc93ea78561711.json"}}, {"family": "Annett", "given": "Alva", "initials": "A"}, {"family": "Stoll", "given": "Patricia", "initials": "P"}, {"family": "Diamanti", "given": "Klev", "initials": "K", "orcid": "0000-0002-4922-8415", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8638ca04ea7f4ff8a191f3c6969b1394.json"}}, {"family": "Holmfeldt", "given": "Linda", "initials": "L", "orcid": "0000-0003-4140-3423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/13a857b0c5b64d10a8e3b6b70d4dc662.json"}}, {"family": "Barren\u00e4s", "given": "Carl Fredrik", "initials": "CF"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Komorowski", "given": "Jan", "initials": "J", "orcid": "0000-0002-0766-8789", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1dffb9dd373741069230b4f80d7e1698.json"}}], "type": "posted-content", "published": "2021-06-05", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2021.06.03.446884", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:04:30.797Z", "modified": "2026-08-20T10:04:30.879Z"}, {"entity": "publication", "iuid": "96454a1397bc498088524ab353dfaadb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/96454a1397bc498088524ab353dfaadb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/96454a1397bc498088524ab353dfaadb"}}, "title": "A new long-read dog assembly uncovers thousands of exons and functional elements missing in the previous reference", "authors": [{"family": "Wang", "given": "Chao", "initials": "C", "orcid": "0000-0003-3936-4023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfac9dfcdfc04a88b002ffe4ee8a5bb4.json"}}, {"family": "Wallerman", "given": "Ola", "initials": "O", "orcid": "0000-0003-1037-7904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/567836f4582a4f79b9fbb362c656b8c9.json"}}, {"family": "Arendt", "given": "Maja Louise", "initials": "ML", "orcid": "0000-0003-1404-172X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f488b6df9c149a3bf6a26be886073cc.json"}}, {"family": "Sundstr\u00f6m", "given": "Elisabeth", "initials": "E", "orcid": "0000-0001-9526-8541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b7ba04d84aa2401da56c1b438d7ee741.json"}}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0003-0198-4796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a000fad9c474ed09fdc5c136d3f0493.json"}}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "M\u00e4kel\u00e4inen", "given": "Suvi", "initials": "S", "orcid": "0000-0001-7378-4991", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f7781ef7a4f4e9daa8621c0f9910180.json"}}, {"family": "Pielberg", "given": "Gerli Rosengren", "initials": "GR", "orcid": "0000-0001-5582-7054", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e85a82d4887740cca6450039a1025043.json"}}, {"family": "Hanson", "given": "Jeanette", "initials": "J", "orcid": "0000-0001-5596-9538", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d5cbb6bf2a24ba7a809f822d450acb3.json"}}, {"family": "Ohlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-7735-7919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f98b0d8854e0431881c5ce2179d4383b.json"}}, {"family": "Saellstr\u00f6m", "given": "Sara", "initials": "S", "orcid": "0000-0001-5253-5830", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85a961c79c6541a99bd227f3846fc56b.json"}}, {"family": "R\u00f6nnberg", "given": "Henrik", "initials": "H", "orcid": "0000-0001-6098-5364", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/46c497dfc2b3477b95906859a654cf41.json"}}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf94e422f2bf4db3a4c873b9882ca4c6.json"}}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72f5852ea390478a8f8dcaa0a4d8390c.json"}}, {"family": "Bergstr\u00f6m", "given": "Tomas F", "initials": "TF", "orcid": "0000-0002-7480-2669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f503392d65ac4ab1a4b1d459ea0f37bb.json"}}, {"family": "Hedhammar", "given": "\u00c5ke", "initials": "\u00c5", "orcid": "0000-0001-7048-3851", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04f22152817b4e3e8fb7890e1566791a.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": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}], "type": "posted-content", "published": "2020-07-02", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2020.07.02.185108", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T09:57:48.394Z", "modified": "2026-08-20T09:57:48.992Z"}, {"entity": "publication", "iuid": "1243c8010a2442e889e83249f03ea517", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1243c8010a2442e889e83249f03ea517.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1243c8010a2442e889e83249f03ea517"}}, "title": "SweHLA: the high confidence HLA typing bio-resource drawn from 1 000 Swedish genomes", "authors": [{"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}], "type": "posted-content", "published": "2019-06-04", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/660241", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T11:13:55.178Z", "modified": "2026-08-20T11:13:55.232Z"}, {"entity": "publication", "iuid": "56f3be882400460986acb3afc127902e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/56f3be882400460986acb3afc127902e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/56f3be882400460986acb3afc127902e"}}, "title": "SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma.", "authors": [{"family": "Sakthikumar", "given": "Sharadha", "initials": "S"}, {"family": "Elvers", "given": "Ingegerd", "initials": "I"}, {"family": "Kim", "given": "Jaegil", "initials": "J"}, {"family": "Arendt", "given": "Maja L", "initials": "ML"}, {"family": "Thomas", "given": "Rachael", "initials": "R", "orcid": "0000-0002-3029-8798", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7613e07c9b242748a912e2ab73a5542.json"}}, {"family": "Turner-Maier", "given": "Jason", "initials": "J"}, {"family": "Swofford", "given": "Ross", "initials": "R"}, {"family": "Johnson", "given": "Jeremy", "initials": "J"}, {"family": "Schumacher", "given": "Steven E", "initials": "SE"}, {"family": "Alf\u00f6ldi", "given": "Jessica", "initials": "J"}, {"family": "Axelsson", "given": "Erik", "initials": "E"}, {"family": "Couto", "given": "C Guillermo", "initials": "CG"}, {"family": "Kisseberth", "given": "William C", "initials": "WC"}, {"family": "Pettersson", "given": "Mats E", "initials": "ME"}, {"family": "Getz", "given": "Gad", "initials": "G"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Modiano", "given": "Jaime F", "initials": "JF"}, {"family": "Breen", "given": "Matthew", "initials": "M"}, {"family": "Kierczak", "given": "Marcin", "initials": "M"}, {"family": "Forsberg-Nilsson", "given": "Karin", "initials": "K"}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "journal article", "published": "2018-07-01", "journal": {"title": "Cancer Res.", "issn": "1538-7445", "volume": "78", "issue": "13", "pages": "3421-3431", "issn-l": "0008-5472"}, "abstract": "Osteosarcoma is a debilitating bone cancer that affects humans, especially children and adolescents. A homologous form of osteosarcoma spontaneously occurs in dogs, and its differential incidence observed across breeds allows for the investigation of tumor mutations in the context of multiple genetic backgrounds. Using whole-exome sequencing and dogs from three susceptible breeds (22 golden retrievers, 21 Rottweilers, and 23 greyhounds), we found that osteosarcoma tumors show a high frequency of somatic copy-number alterations (SCNA), affecting key oncogenes and tumor-suppressor genes. The across-breed results are similar to what has been observed for human osteosarcoma, but the disease frequency and somatic mutation counts vary in the three breeds. For all breeds, three mutational signatures (one of which has not been previously reported) and 11 significantly mutated genes were identified. TP53 was the most frequently altered gene (83% of dogs have either mutations or SCNA in TP53), recapitulating observations in human osteosarcoma. The second most frequently mutated gene, histone methyltransferase SETD2, has known roles in multiple cancers, but has not previously been strongly implicated in osteosarcoma. This study points to the likely importance of histone modifications in osteosarcoma and highlights the strong genetic similarities between human and dog osteosarcoma, suggesting that canine osteosarcoma may serve as an excellent model for developing treatment strategies in both species.Significance: Canine osteosarcoma genomics identify SETD2 as a possible oncogenic driver of osteosarcoma, and findings establish the canine model as a useful comparative model for the corresponding human disease. Cancer Res; 78(13); 3421-31. \u00a92018 AACR.", "doi": "10.1158/0008-5472.CAN-17-3558", "pmid": "29724721", "labels": {"Affiliated researcher": null}, "xrefs": [{"db": "pii", "key": "0008-5472.CAN-17-3558"}], "notes": [], "created": "2019-01-17T13:52:33.893Z", "modified": "2026-08-20T12:10:44.996Z"}, {"entity": "publication", "iuid": "9532e2cc1bee4ab7891d71c2bc6261cf", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9532e2cc1bee4ab7891d71c2bc6261cf.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9532e2cc1bee4ab7891d71c2bc6261cf"}}, "title": "A potential regulatory region near the EDN3 gene may control both harness racing performance and coat color variation in horses.", "authors": [{"family": "J\u00e4derkvist Fegraeus", "given": "Kim", "initials": "K"}, {"family": "Velie", "given": "Brandon D", "initials": "BD"}, {"family": "Axelsson", "given": "Jeanette", "initials": "J"}, {"family": "Ang", "given": "Rachel", "initials": "R"}, {"family": "Hamilton", "given": "Natasha A", "initials": "NA"}, {"family": "Andersson", "given": "Leif", "initials": "L"}, {"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"}], "type": "journal article", "published": "2018-05-00", "journal": {"title": "Physiol Rep", "issn": "2051-817X", "volume": "6", "issue": "10", "pages": "e13700", "issn-l": null}, "abstract": "The Swedish-Norwegian Coldblooded trotter and the heavier North-Swedish draught horse both descend from the North-Swedish horse, but the Coldblooded trotters have been selected for racing performance while the North-Swedish draught horse is mainly used for agricultural and forestry work. By comparing the genomes of Coldblooded trotters, North-Swedish draught horses and Standardbreds for a large number of single-nucleotide polymorphisms (SNPs), the aim of the study was to identify genetic regions that may be under selection for racing performance. We hypothesized that the selection for racing performance, in combination with unauthorized crossbreeding of Coldblooded trotters and Standardbreds, has created regions in the genome where the Coldblooded trotters and Standardbreds are similar, but differ from the North-Swedish draught horse. A fixation index (Fst) analysis was performed and sliding window Delta Fst values were calculated across the three breeds. Five windows, where the average Fst between Coldblooded trotters and Standardbreds was low and the average Fst between Coldblooded trotters and North-Swedish draught horses was high, were selected for further investigation. Associations between the most highly ranked SNPs and harness racing performance were analyzed in 400 raced Coldblooded trotters with race records. One SNP showed a significant association with racing performance, with the CC genotype appearing to be negatively associated. The SNP identified was genotyped in 1915 horses of 18 different breeds. The frequency of the TT genotype was high in breeds typically used for racing and show jumping while the frequency of the CC genotype was high in most pony breeds and draught horses. The closest gene in this region was the Endothelin3 gene (EDN3), a gene mainly involved in melanocyte and enteric neuron development. Both functional genetic and physiological studies are needed to fully understand the possible impacts of the gene on racing performance.", "doi": "10.14814/phy2.13700", "pmid": "29845762", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5974718"}], "notes": [], "created": "2026-08-20T12:45:08.612Z", "modified": "2026-08-20T12:45:50.978Z"}]}