{"entity": "researcher", "timestamp": "2026-09-23T21:38:24.638Z", "family": "Axelsson", "given": "Erik", "initials": "E", "orcid": "0000-0001-6748-5450", "affiliations": ["Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/8709062c5d104166aff84da6a4b2b876.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/8709062c5d104166aff84da6a4b2b876"}}, "publications": [{"entity": "publication", "iuid": "7f8e62d9efe74cd98d5cf29fb771f6a9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7f8e62d9efe74cd98d5cf29fb771f6a9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7f8e62d9efe74cd98d5cf29fb771f6a9"}}, "title": "The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels.", "authors": [{"family": "Axelsson", "given": "Erik", "initials": "E", "orcid": "0000-0001-6748-5450", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8709062c5d104166aff84da6a4b2b876.json"}}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf94e422f2bf4db3a4c873b9882ca4c6.json"}}, {"family": "Bhoumik", "given": "Priyasma", "initials": "P", "orcid": "0000-0002-0698-5213", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ecc3f0da6b4b437b9840b3d6d20ff6e3.json"}}, {"family": "Conn", "given": "Laura Bas", "initials": "LB", "orcid": "0000-0003-3063-7160", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbf9b8a80ab441719b0360547b2ac315.json"}}, {"family": "Muren", "given": "Eva", "initials": "E"}, {"family": "Ohlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0003-1116-0141", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1beed4c72a2a43198a46f8b1467af3fc.json"}}, {"family": "Olsen", "given": "Lisbeth H\u00f8ier", "initials": "LH", "orcid": "0000-0002-0292-3111", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9904775cba864668a8f6f2199a70d11b.json"}}, {"family": "Engdahl", "given": "Karolina", "initials": "K", "orcid": "0000-0003-2800-9990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d691e5a24e8244748004cec1cd620c1f.json"}}, {"family": "Hagman", "given": "Ragnvi", "initials": "R", "orcid": "0000-0002-9853-4558", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e96289feef9d4714bb797bed5ac812a6.json"}}, {"family": "Hanson", "given": "Jeanette", "initials": "J", "orcid": "0000-0001-5596-9538", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d5cbb6bf2a24ba7a809f822d450acb3.json"}}, {"family": "Kryvokhyzha", "given": "Dmytro", "initials": "D", "orcid": "0000-0001-6498-1977", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a652c836aef945e08076f3ddc88debf2.json"}}, {"family": "Pettersson", "given": "Mats", "initials": "M", "orcid": "0000-0002-7372-9076", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a2310759fe6e4fd0b4a48ba9c35d3f84.json"}}, {"family": "Grenet", "given": "Olivier", "initials": "O"}, {"family": "Moggs", "given": "Jonathan", "initials": "J"}, {"family": "Del Rio-Espinola", "given": "Alberto", "initials": "A"}, {"family": "Epe", "given": "Christian", "initials": "C", "orcid": "0000-0001-9144-0930", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/53bc77cf46b04448b55a81ccbaf67283.json"}}, {"family": "Taillon", "given": "Bruce", "initials": "B", "orcid": "0000-0002-2124-7921", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0ae6c6961d2c419aadd3b854076d9a63.json"}}, {"family": "Tawari", "given": "Nilesh", "initials": "N", "orcid": "0000-0002-1127-0765", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/284d71181e5d4295ad620ee0c79d9c45.json"}}, {"family": "Mane", "given": "Shrinivas", "initials": "S", "orcid": "0000-0003-4123-624X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b9f4f5a6f3674cc6af36656039674065.json"}}, {"family": "Hawkins", "given": "Troy", "initials": "T", "orcid": "0000-0002-6982-5014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/36091ea2ddd14506820a28b98054d88f.json"}}, {"family": "Hedhammar", "given": "\u00c5ke", "initials": "\u00c5"}, {"family": "Gruet", "given": "Philippe", "initials": "P"}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72f5852ea390478a8f8dcaa0a4d8390c.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "journal article", "published": "2021-09-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "17", "issue": "9", "pages": "e1009726", "issn-l": "1553-7390"}, "abstract": "Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load remains unclear. Here we generate whole genome sequencing (WGS) data from 20 dogs per breed from eight breeds and document a ~10% rise in the number of derived alleles per genome at evolutionarily conserved sites in the heavily bottlenecked cavalier King Charles spaniel breed (cKCs) relative to in most breeds studied here. Our finding represents the first clear indication of a relative increase in levels of deleterious genetic variation in a specific breed, arguing that recent breeding practices probably were associated with an accumulation of genetic load in dogs. We then use the WGS data to identify candidate risk alleles for the most common cause for veterinary care in cKCs-the heart disease myxomatous mitral valve disease (MMVD). We verify a potential link to MMVD for candidate variants near the heart specific NEBL gene in a dachshund population and show that two of the NEBL candidate variants have regulatory potential in heart-derived cell lines and are associated with reduced NEBL isoform nebulette expression in papillary muscle (but not in mitral valve, nor in left ventricular wall). Alleles linked to reduced nebulette expression may hence predispose cKCs and other breeds to MMVD via loss of papillary muscle integrity.", "doi": "10.1371/journal.pgen.1009726", "pmid": "34473707", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8412370"}, {"db": "pii", "key": "PGENETICS-D-21-00373"}], "notes": [], "created": "2026-09-23T08:54:36.777Z", "modified": "2026-09-23T08:54:37.498Z"}, {"entity": "publication", "iuid": "3d2ad44557cf4eb3997b8461203b87ba", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3d2ad44557cf4eb3997b8461203b87ba.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3d2ad44557cf4eb3997b8461203b87ba"}}, "title": "Amy2B copy number variation reveals starch diet adaptations in ancient European dogs.", "authors": [{"family": "Ollivier", "given": "Morgane", "initials": "M", "orcid": "0000-0002-8361-4221", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/114b4ecdd7e3462796fb8271aa4b9511.json"}}, {"family": "Tresset", "given": "Anne", "initials": "A"}, {"family": "Bastian", "given": "Fabiola", "initials": "F"}, {"family": "Lagoutte", "given": "Laetitia", "initials": "L"}, {"family": "Axelsson", "given": "Erik", "initials": "E", "orcid": "0000-0001-6748-5450", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8709062c5d104166aff84da6a4b2b876.json"}}, {"family": "Arendt", "given": "Maja-Louise", "initials": "ML"}, {"family": "B\u0103l\u0103\u015fescu", "given": "Adrian", "initials": "A"}, {"family": "Marshour", "given": "Marjan", "initials": "M"}, {"family": "Sablin", "given": "Mikhail V", "initials": "MV"}, {"family": "Salanova", "given": "Laure", "initials": "L"}, {"family": "Vigne", "given": "Jean-Denis", "initials": "JD"}, {"family": "Hitte", "given": "Christophe", "initials": "C"}, {"family": "H\u00e4nni", "given": "Catherine", "initials": "C"}], "type": "journal article", "published": "2016-11-00", "journal": {"volume": "3", "issn": "2054-5703", "issue": "11", "pages": "160449", "title": "R Soc Open Sci", "issn-l": "2054-5703"}, "abstract": "Extant dog and wolf DNA indicates that dog domestication was accompanied by the selection of a series of duplications on the Amy2B gene coding for pancreatic amylase. In this study, we used a palaeogenetic approach to investigate the timing and expansion of the Amy2B gene in the ancient dog populations of Western and Eastern Europe and Southwest Asia. Quantitative polymerase chain reaction was used to estimate the copy numbers of this gene for 13 ancient dog samples, dated to between 15 000 and 4000 years before present (cal. BP). This evidenced an increase of Amy2B copies in ancient dogs from as early as the 7th millennium cal. BP in Southeastern Europe. We found that the gene expansion was not fixed across all dogs within this early farming context, with ancient dogs bearing between 2 and 20 diploid copies of the gene. The results also suggested that selection for the increased Amy2B copy number started 7000 years cal. BP, at the latest. This expansion reflects a local adaptation that allowed dogs to thrive on a starch rich diet, especially within early farming societies, and suggests a biocultural coevolution of dog genes and human culture.", "doi": "10.1098/rsos.160449", "pmid": "28018628", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5180126"}, {"db": "pii", "key": "rsos160449"}], "notes": [], "created": "2018-12-05T12:00:08.154Z", "modified": "2026-09-23T09:13:39.021Z"}]}