{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T08:49:59Z","timestamp":1749199799778,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","award":["101000504"],"award-info":[{"award-number":["101000504"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["2020.01494.CEECIND","CEECINST\/00014\/2018\/CP1512\/CT0002","SFRH\/BD\/147030\/2019"],"award-info":[{"award-number":["2020.01494.CEECIND","CEECINST\/00014\/2018\/CP1512\/CT0002","SFRH\/BD\/147030\/2019"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acromelanism is a form of albinism observed in several vertebrate species. In mammals, acromelanism is known to be caused by mutations in the tyrosinase gene (<jats:italic>TYR<\/jats:italic>) that induce a temperature\u2010sensitive behavior of melanin synthesis, resulting in a characteristic hair color gradient. In birds, several phenotypes consistent with acromelanism have been reported, but their genetic basis remains unknown. This study aimed to identify the genetic basis of an acromelanistic phenotype in domesticated canaries known as <jats:italic>pearl<\/jats:italic> and test whether it is caused by the same molecular mechanism described for mammals. To do this, we compared the genomes of <jats:italic>pearl<\/jats:italic> and non\u2010<jats:italic>pearl<\/jats:italic> canaries and searched for potentially causative genetic mutations. Our results suggest that the <jats:italic>pearl<\/jats:italic> phenotype is caused by a mutation in the <jats:italic>TYR<\/jats:italic> gene encoding a TYR\u2010P45H missense substitution. Our findings further suggest that reports of acromelanism in other bird species might be explained by <jats:italic>TYR<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/age.13481","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T16:45:40Z","timestamp":1728405940000},"page":"838-842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A missense mutation in the tyrosinase gene explains acromelanism in domesticated canaries"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6670-5859","authenticated-orcid":false,"given":"Margarida","family":"Guimar\u00e3es\u2010Moreira","sequence":"first","affiliation":[{"name":"Department of Life Sciences, MARE \u2013 Marine and Environmental Sciences Centre University of Coimbra  Coimbra Portugal"},{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiana I.","family":"Marques","sequence":"additional","affiliation":[{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"},{"name":"Departamento de Biologia, Faculdade de Ci\u00eancias Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Afonso","sequence":"additional","affiliation":[{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Lacerda","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, MARE \u2013 Marine and Environmental Sciences Centre University of Coimbra  Coimbra Portugal"},{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"},{"name":"School of Biological and Behavioural Sciences Queen Mary University of London  London UK"},{"name":"Natural History Museum of London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Carneiro","sequence":"additional","affiliation":[{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro M.","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, MARE \u2013 Marine and Environmental Sciences Centre University of Coimbra  Coimbra Portugal"},{"name":"CIBIO, Centro de Investiga\u00e7\u00e3o em Biodiversidade e Recursos Gen\u00e9ticos, InBIO Laborat\u00f3rio Associado Universidade do Porto  Vair\u00e3o Portugal"},{"name":"BIOPOLIS Program in Genomics, Biodiversity and Land Planning CIBIO  Vair\u00e3o Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010120"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1052"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335\u2010009\u20109177\u20106"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13331"},{"key":"e_1_2_6_6_1","unstructured":"Broad Institute. (2019)Picard toolkit. Broad Institute GitHub repository. Available from:https:\/\/broadinstitute.github.io\/picard\/"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.145212"},{"key":"e_1_2_6_8_1","unstructured":"Chieppa F.&Nobili C.M.(2015)La Nuova Mutazione Nero Perla. Il Portale Italiano Dell'\u2019Ornitofilia V&A. Available from:https:\/\/www.verdiardesia.com\/interviste\/perla\/intervista\u2010nobili.asp"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.064907"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giab008"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms17071144"},{"key":"e_1_2_6_13_1","unstructured":"Garrison E.&Marth G.(2012)Haplotype\u2010based variant detection from short\u2010read sequencing \u2013 free bayes \u2013 variant calling \u2013 longranger. ArXiv Preprint ArXiv:1207.3907."},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aba0803"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msaa006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115075"},{"key":"e_1_2_6_17_1","unstructured":"Gunnarsson U.(2009)Genetic studies of pigmentation in chicken. PhD thesis. Digital comprehensive summaries of Uppsala dissertations from the Faculty of Medicine 428."},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010021\u201003819\u20102"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1402150111"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr589"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1139\/gen\u20102020\u20100003"},{"key":"e_1_2_6_22_1","first-page":"206","volume-title":"Aberrant plumages in grebes Podicipedidae: an analysis of albinism, leucism, brown and other aberrations in all grebe species worldwide","author":"Konter A.","year":"2015"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006\u2010291X(89)91588\u2010X"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1950.30.1.91"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2016.03.076"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01677680"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102052.2005.01253.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.18699\/VJ19.499"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tree.2020.12.012"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2008.11.012"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1999.0598"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq033"},{"key":"e_1_2_6_35_1","doi-asserted-by":"crossref","unstructured":"Renoult J.P.&Valeur B.(2016)The colors of life.ChemViews.https:\/\/doi.org\/10.1002\/chemv.201600025","DOI":"10.1002\/chemv.201600025"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00161317"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esi066"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/498276"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1700751114"},{"key":"e_1_2_6_41_1","first-page":"79","article-title":"Not every white bird is an albino: sense and nonsense about colour aberrations in birds","volume":"28","author":"Grouw H.","year":"2006","journal-title":"Dutch Birding"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1515\/isspar\u20102015\u20100012"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab1061"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12765"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13481","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T10:21:51Z","timestamp":1730715711000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.13481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,8]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/age.13481"],"URL":"https:\/\/doi.org\/10.1111\/age.13481","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"type":"print","value":"0268-9146"},{"type":"electronic","value":"1365-2052"}],"subject":[],"published":{"date-parts":[[2024,10,8]]},"assertion":[{"value":"2024-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}