{"entity": "researcher", "timestamp": "2026-09-23T15:19:59.995Z", "family": "Davis", "given": "Brian W", "initials": "BW", "orcid": "0000-0002-6121-135X", "affiliations": ["Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843, USA."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/860474a0b2384119b8c9da985ca7ea93.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/860474a0b2384119b8c9da985ca7ea93"}}, "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": "919b592edda54099a0b4b37338ab2000", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/919b592edda54099a0b4b37338ab2000.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/919b592edda54099a0b4b37338ab2000"}}, "title": "Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.", "authors": [{"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Kidd", "given": "Jeffrey M", "initials": "JM", "orcid": "0000-0002-9631-1465", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/87d00735bd48420896025e5e52aa7298.json"}}, {"family": "Wang", "given": "Guo-Dong", "initials": "GD", "orcid": "0000-0002-9407-4363", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61a7c21f358b4feea0ec783219f7ac42.json"}}, {"family": "Parker", "given": "Heidi G", "initials": "HG", "orcid": "0000-0002-9707-6380", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8bbe68238e524a85bdf7f2556b61301f.json"}}, {"family": "Schall", "given": "Peter Z", "initials": "PZ", "orcid": "0000-0003-1016-6998", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81d0ab278ec44c4b83e1180740fa9a26.json"}}, {"family": "Bianchi", "given": "Matteo", "initials": "M", "orcid": "0000-0003-3394-6495", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3183e335a393486f8b6534db17b066d0.json"}}, {"family": "Christmas", "given": "Matthew J", "initials": "MJ", "orcid": "0000-0002-6355-7581", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/997ea196d4ae4c9790a715246dbfac82.json"}}, {"family": "Bougiouri", "given": "Katia", "initials": "K", "orcid": "0000-0002-7890-2755", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14fbc8f63c084c1f948d7f819c7e4be8.json"}}, {"family": "Buckley", "given": "Reuben M", "initials": "RM", "orcid": "0000-0001-6334-3906", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/52f6dd32f4b9457b82e1f381b36657f8.json"}}, {"family": "Hitte", "given": "Christophe", "initials": "C", "orcid": "0000-0003-1714-437X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b2aec5eba577458badfa5f3e9da2c7e2.json"}}, {"family": "Nguyen", "given": "Anthony K", "initials": "AK", "orcid": "0000-0002-9634-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/19d1cf1c2d5f4529b41628766ccb2cd8.json"}}, {"family": "Wang", "given": "Chao", "initials": "C", "orcid": "0000-0003-3936-4023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfac9dfcdfc04a88b002ffe4ee8a5bb4.json"}}, {"family": "Jagannathan", "given": "Vidhya", "initials": "V", "orcid": "0000-0002-8155-0041", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61e55b7d7ff44bfa8c602463aff78927.json"}}, {"family": "Niskanen", "given": "Julia E", "initials": "JE", "orcid": "0000-0002-2871-6890", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4fe654ab4f7443a69dd17a6b43c79f47.json"}}, {"family": "Frantz", "given": "Laurent A F", "initials": "LAF", "orcid": "0000-0001-8030-3885", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/268c91b6ad33496da684e340f543862c.json"}}, {"family": "Arumilli", "given": "Meharji", "initials": "M"}, {"family": "Hundi", "given": "Sruthi", "initials": "S", "orcid": "0000-0002-5803-1841", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5637e79b33854d3eb24d9cb1e16786bd.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}, {"family": "Ginja", "given": "Catarina", "initials": "C", "orcid": "0000-0003-2278-7089", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fb9e7853817d4232b6bf2c81f2d1f4a9.json"}}, {"family": "Agustina", "given": "Kadek Karang", "initials": "KK", "orcid": "0000-0002-7128-0914", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/82ae61c2ab1e4aa1af4eedae1c5c9fbb.json"}}, {"family": "Andr\u00e9", "given": "Catherine", "initials": "C"}, {"family": "Boyko", "given": "Adam R", "initials": "AR", "orcid": "0000-0002-9125-6874", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/93514d8cc7b945619ed50443e7ca6030.json"}}, {"family": "Davis", "given": "Brian W", "initials": "BW", "orcid": "0000-0002-6121-135X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/860474a0b2384119b8c9da985ca7ea93.json"}}, {"family": "Dr\u00f6gem\u00fcller", "given": "Michaela", "initials": "M", "orcid": "0000-0001-9378-7903", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4872d6278d63408a89dbc598d2e60d49.json"}}, {"family": "Feng", "given": "Xin-Yao", "initials": "XY", "orcid": "0000-0002-2603-3105", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b78583f4ca5e422fb11ee6039575dae5.json"}}, {"family": "Gkagkavouzis", "given": "Konstantinos", "initials": "K"}, {"family": "Iliopoulos", "given": "Giorgos", "initials": "G"}, {"family": "Harris", "given": "Alexander C", "initials": "AC", "orcid": "0000-0002-6868-5363", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b30f17aba31406f9f269364f4cc7507.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": "Kalthoff", "given": "Daniela C", "initials": "DC", "orcid": "0000-0003-2439-5484", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbf95ba94cfa41ef8a2ad3e8e34d23cf.json"}}, {"family": "Liu", "given": "Yan-Hu", "initials": "YH", "orcid": "0000-0001-9991-4571", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8fb30cae56ae46528587c81431298e7f.json"}}, {"family": "Lymberakis", "given": "Petros", "initials": "P"}, {"family": "Poulakakis", "given": "Nikolaos", "initials": "N"}, {"family": "Pires", "given": "Ana Elisabete", "initials": "AE", "orcid": "0000-0002-1118-8569", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f6a7202e66442a882c5ff8760dc761e.json"}}, {"family": "Racimo", "given": "Fernando", "initials": "F", "orcid": "0000-0002-5025-2607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ea20be00d9a149568c27a0e5d0f66c9f.json"}}, {"family": "Ramos-Almodovar", "given": "Fabian", "initials": "F", "orcid": "0000-0001-9094-7895", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b43257be391040d8a140a60258987f9c.json"}}, {"family": "Savolainen", "given": "Peter", "initials": "P", "orcid": "0000-0002-1495-8338", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06353af3236049c4988c0bb038443a96.json"}}, {"family": "Venetsani", "given": "Semina", "initials": "S"}, {"family": "Tammen", "given": "Imke", "initials": "I", "orcid": "0000-0002-5520-6597", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1f46ec5759b447068f4ffbe2731ad9d0.json"}}, {"family": "Triantafyllidis", "given": "Alexandros", "initials": "A", "orcid": "0000-0003-0469-011X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/25f2df58b8044a2cbc9d3f2c451c95bf.json"}}, {"family": "vonHoldt", "given": "Bridgett", "initials": "B", "orcid": "0000-0001-6908-1687", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ea3f2e1adc0e429782a368580bae269c.json"}}, {"family": "Wayne", "given": "Robert K", "initials": "RK", "orcid": "0000-0003-3537-2245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c41d2b28a69849bc8be3c905c36e01d6.json"}}, {"family": "Larson", "given": "Greger", "initials": "G", "orcid": "0000-0002-4092-0392", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dbcb4bf5ac644e2b9dd19083c9a90b9d.json"}}, {"family": "Nicholas", "given": "Frank W", "initials": "FW", "orcid": "0000-0002-9178-3965", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/230edbe08715408993169026dcd90fcd.json"}}, {"family": "Lohi", "given": "Hannes", "initials": "H", "orcid": "0000-0003-1087-5532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eab428714c9f4f5eb0de63ffc7500f25.json"}}, {"family": "Leeb", "given": "Tosso", "initials": "T", "orcid": "0000-0003-0553-4880", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8b9a5b55628740d99bdb37372a1c37b3.json"}}, {"family": "Zhang", "given": "Ya-Ping", "initials": "YP", "orcid": "0000-0002-5401-1114", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08315abecebf43c0adc5874c44e3cf11.json"}}, {"family": "Ostrander", "given": "Elaine A", "initials": "EA", "orcid": "0000-0001-6075-9738", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb08ca2565ce45c9adfa484cf60b2909.json"}}], "type": "journal article", "published": "2023-08-15", "journal": {"title": "Genome Biol.", "issn": "1474-760X", "volume": "24", "issue": "1", "pages": "187", "issn-l": "1474-7596"}, "abstract": "The international Dog10K project aims to sequence and analyze several thousand canine genomes. Incorporating 20 \u00d7 data from 1987 individuals, including 1611 dogs (321 breeds), 309 village dogs, 63 wolves, and four coyotes, we identify genomic variation across the canid family, setting the stage for detailed studies of domestication, behavior, morphology, disease susceptibility, and genome architecture and function.\n\nWe report the analysis of > 48 M single-nucleotide, indel, and structural variants spanning the autosomes, X chromosome, and mitochondria. We discover more than 75% of variation for 239 sampled breeds. Allele sharing analysis indicates that 94.9% of breeds form monophyletic clusters and 25 major clades. German Shepherd Dogs and related breeds show the highest allele sharing with independent breeds from multiple clades. On average, each breed dog differs from the UU_Cfam_GSD_1.0 reference at 26,960 deletions and 14,034 insertions greater than 50 bp, with wolves having 14% more variants. Discovered variants include retrogene insertions from 926 parent genes. To aid functional prioritization, single-nucleotide variants were annotated with SnpEff and Zoonomia phyloP constraint scores. Constrained positions were negatively correlated with allele frequency. Finally, the utility of the Dog10K data as an imputation reference panel is assessed, generating high-confidence calls across varied genotyping platform densities including for breeds not included in the Dog10K collection.\n\nWe have developed a dense dataset of 1987 sequenced canids that reveals patterns of allele sharing, identifies likely functional variants, informs breed structure, and enables accurate imputation. Dog10K data are publicly available.", "doi": "10.1186/s13059-023-03023-7", "pmid": "37582787", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10426128"}, {"db": "pii", "key": "10.1186/s13059-023-03023-7"}], "notes": [], "created": "2026-09-23T07:32:42.444Z", "modified": "2026-09-23T07:32:43.598Z"}, {"entity": "publication", "iuid": "34afc7c4b1c94992bdd7d658514de5e1", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/34afc7c4b1c94992bdd7d658514de5e1.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/34afc7c4b1c94992bdd7d658514de5e1"}}, "title": "Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens.", "authors": [{"family": "Li", "given": "Jingyi", "initials": "J"}, {"family": "Lee", "given": "Mi-Ok", "initials": "MO"}, {"family": "Chen", "given": "Junfeng", "initials": "J"}, {"family": "Davis", "given": "Brian W", "initials": "BW", "orcid": "0000-0002-6121-135X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/860474a0b2384119b8c9da985ca7ea93.json"}}, {"family": "Dorshorst", "given": "Benjamin J", "initials": "BJ"}, {"family": "Siegel", "given": "Paul B", "initials": "PB", "orcid": "0000-0003-1415-7781", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9fa886ce8de24115b195e0eaa477188e.json"}}, {"family": "Inaba", "given": "Masafumi", "initials": "M"}, {"family": "Jiang", "given": "Ting-Xin", "initials": "TX", "orcid": "0000-0003-1972-8985", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/49a01b8cf7f6435b93ad571176a8e5bc.json"}}, {"family": "Chuong", "given": "Cheng-Ming", "initials": "CM", "orcid": "0000-0001-9673-3994", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fb0ccfcf57604e49a3e0f0c606b3a381.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": "2021-10-12", "journal": {"title": "Proc. Natl. Acad. Sci. U.S.A.", "issn": "1091-6490", "volume": "118", "issue": "41", "issn-l": "0027-8424"}, "abstract": "Melanotic (Ml) is a mutation in chickens that extends black (eumelanin) pigmentation in normally brown or red (pheomelanin) areas, thus affecting multiple within-feather patterns [J. W. Moore, J. R. Smyth Jr, J. Hered. 62, 215-219 (1971)]. In the present study, linkage mapping using a back-cross between Dark Cornish (Ml/Ml) and Partridge Plymouth Rock (ml+/ml ) chickens assigned +Ml to an 820-kb region on chromosome 1. Identity-by-descent mapping, via whole-genome sequencing and diagnostic tests using a diverse set of chickens, refined the localization to the genomic region harboring GJA5 encoding gap-junction protein 5 (alias connexin 40) previously associated with pigmentation patterns in zebrafish. An insertion/deletion polymorphism located in the vicinity of the GJA5 promoter region was identified as the candidate causal mutation. Four different GJA5 transcripts were found to be expressed in feather follicles and at least two showed differential expression between genotypes. The results showed that Melanotic constitutes a cis-acting regulatory mutation affecting GJA5 expression. A recent study established the melanocortin-1 receptor (MC1R) locus and the interaction between the MC1R receptor and its antagonist agouti-signaling protein as the primary mechanism underlying variation in within-feather pigmentation patterns in chickens. The present study advances understanding the mechanisms underlying variation in plumage color in birds because it demonstrates that the activity of connexin 40/GJA5 can modulate the periodic pigmentation patterns within individual feathers.", "doi": "10.1073/pnas.2109363118", "pmid": "34607956", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8521658"}, {"db": "pii", "key": "2109363118"}], "notes": [], "created": "2026-09-23T11:10:35.857Z", "modified": "2026-09-23T11:10:36.027Z"}]}