{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T02:38:28Z","timestamp":1778294308569,"version":"3.51.4"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T00:00:00Z","timestamp":1757116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T00:00:00Z","timestamp":1757116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"University of Bern"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>The aim of this study was to investigate three unrelated Simmental calves with atypical white coat color, identify potential genetic causes using a trio-based whole-genome sequencing approach, and assess the prevalence of the identified variants in the breed. Several inherited alleles affecting coat color, ranging from fawn to red spotted and white-headed, have been described in Simmental cattle originating from Switzerland. However, no genetic variant has yet been associated with an almost completely white coat in this breed. Clinical examination revealed different syndromic disorders of white coat color in Simmental in all three cases, and pedigree records indicated recessive inheritance. Filtering for rare protein-changing variants revealed an independent homozygous variant that could be the cause in each case: a likely pathogenic missense variant in <jats:italic>TYR<\/jats:italic> (NP_851344.1:p.Pro428Leu) in case 1 with oculocutaneous albinism type 1, a likely pathogenic missense variant in <jats:italic>GRID1<\/jats:italic> (XP_024842694.1:p.Pro489His) in case 2 with short stature-auditory depigmentation syndrome, and a frameshift variant of uncertain significance in <jats:italic>RAD54B<\/jats:italic> (NP_001179884.1:p.Ala722_Gly724delinsAsnLeuIlePheCys*) in case 3 with a multisystem depigmentation syndrome. Validation by Sanger sequencing confirmed the variant genotypes, and parental heterozygosity supported recessive inheritance. These variants were almost entirely absent from other breeds, and the allele frequency of the three candidate causal variants was less than 1% in the current Swiss Simmental population. This study identified three novel recessive alleles associated with syndromic forms of albinism or depigmentation, revealing unexpected heterogeneity. The investigation did not reveal any indications of possible dominant de novo mutations impacting protein coding genes including known candidate genes for depigmentation phenotypes. These findings possibly expand the list of pigmentation related genes in mammals, but further investigation is needed. We also highlight the biomedical relevance of investigating rare congenital disorders in livestock.<\/jats:p>","DOI":"10.1007\/s00438-025-02290-2","type":"journal-article","created":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T08:23:15Z","timestamp":1757146995000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation"],"prefix":"10.1007","volume":"300","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-7975","authenticated-orcid":false,"given":"Joana G. P.","family":"Jacinto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Therese","family":"Leuenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Hauser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"Irene M.","family":"H\u00e4fliger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4396-2747","authenticated-orcid":false,"given":"Franz R.","family":"Seefried","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6521-1285","authenticated-orcid":false,"given":"Anna","family":"Letko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9773-522X","authenticated-orcid":false,"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,9,6]]},"reference":[{"key":"2290_CR1","doi-asserted-by":"publisher","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76. https:\/\/doi.org\/10.1002\/0471142905.hg0720s76","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"2290_CR2","doi-asserted-by":"publisher","first-page":"8829","DOI":"10.1038\/ncomms9829","volume":"6","author":"N Ameziane","year":"2015","unstructured":"Ameziane N, May P, Haitjema A et al (2015) A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun 6:8829. https:\/\/doi.org\/10.1038\/ncomms9829","journal-title":"Nat Commun"},{"key":"2290_CR3","doi-asserted-by":"publisher","first-page":"e0180170","DOI":"10.1371\/journal.pone.0180170","volume":"12","author":"N Awasthi Mishra","year":"2017","unstructured":"Awasthi Mishra N, Dr\u00f6gem\u00fcller C, Jagannathan V et al (2017) A structural variant in the 5\u2019-flanking region of the TWIST2 gene affects melanocyte development in belted cattle. PLoS One 12:e0180170. https:\/\/doi.org\/10.1371\/journal.pone.0180170","journal-title":"PLoS One"},{"key":"2290_CR4","doi-asserted-by":"publisher","DOI":"10.3390\/ani10010005","author":"I Baazaoui","year":"2019","unstructured":"Baazaoui I, McEwan J, Anderson R et al (2019) GBS data identify pigmentation-specific genes of potential role in skin-photosensitization in two Tunisian sheep breeds. Animals. https:\/\/doi.org\/10.3390\/ani10010005","journal-title":"Animals"},{"key":"2290_CR5","doi-asserted-by":"publisher","first-page":"D878","DOI":"10.1093\/nar\/gkae1118","volume":"53","author":"FB Bastian","year":"2025","unstructured":"Bastian FB, Cammarata AB, Carsanaro S et al (2025) Bgee in 2024: focus on curated single-cell RNA-seq datasets, and query tools. Nucleic Acids Res 53:D878\u2013D885. https:\/\/doi.org\/10.1093\/nar\/gkae1118","journal-title":"Nucleic Acids Res"},{"key":"2290_CR6","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/wdev.72","volume":"2","author":"LL Baxter","year":"2013","unstructured":"Baxter LL, Pavan WJ (2013) The etiology and molecular genetics of human pigmentation disorders. Wires Dev Biol 2:379\u2013392. https:\/\/doi.org\/10.1002\/wdev.72","journal-title":"Wires Dev Biol"},{"key":"2290_CR7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003440","volume":"10","author":"J Bendl","year":"2014","unstructured":"Bendl J, Stourac J, Salanda O et al (2014) PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol 10:1\u201311. https:\/\/doi.org\/10.1371\/journal.pcbi.1003440","journal-title":"PLoS Comput Biol"},{"key":"2290_CR8","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/s12864-020-6446-y","volume":"21","author":"M Bhati","year":"2020","unstructured":"Bhati M, Kadri NK, Crysnanto D, Pausch H (2020) Assessing genomic diversity and signatures of selection in original Braunvieh cattle using whole-genome sequencing data. BMC Genomics 21:27. https:\/\/doi.org\/10.1186\/s12864-020-6446-y","journal-title":"BMC Genomics"},{"key":"2290_CR9","doi-asserted-by":"crossref","unstructured":"Biscarini F, Cozzi P, Gaspa G, Marras G (2019) DetectRUNS: An R Package to Detect Runs of Homozygosity and Heterozygosity in Diploid Genomes. CRAN (The Comprehensive R Archive Network). https:\/\/CRAN.R-project.org\/package=detectRUNS. Accessed 4 Jul 2023","DOI":"10.32614\/CRAN.package.detectRUNS"},{"key":"2290_CR10","doi-asserted-by":"publisher","DOI":"10.3389\/fvets.2024.1497817","volume":"11","author":"F Boeykens","year":"2024","unstructured":"Boeykens F, Abitbol M, Anderson H et al (2024) Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci 11:1497817. https:\/\/doi.org\/10.3389\/fvets.2024.1497817","journal-title":"Front Vet Sci"},{"key":"2290_CR11","doi-asserted-by":"publisher","first-page":"W451","DOI":"10.1093\/nar\/gkad455","volume":"51","author":"E Capriotti","year":"2023","unstructured":"Capriotti E, Fariselli P (2023) Phd-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants. Nucleic Acids Res 51:W451\u2013W458. https:\/\/doi.org\/10.1093\/nar\/gkad455","journal-title":"Nucleic Acids Res"},{"key":"2290_CR12","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1111\/cge.13190","volume":"93","author":"SM Caspar","year":"2018","unstructured":"Caspar SM, Dubacher N, Kopps AM et al (2018) Clinical sequencing: from raw data to diagnosis with lifetime value. Clin Genet 93:508\u2013519. https:\/\/doi.org\/10.1111\/cge.13190","journal-title":"Clin Genet"},{"key":"2290_CR13","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","volume":"4","author":"CC Chang","year":"2015","unstructured":"Chang CC, Chow CC, Tellier LC et al (2015) Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4:7. https:\/\/doi.org\/10.1186\/s13742-015-0047-8","journal-title":"Gigascience"},{"key":"2290_CR14","doi-asserted-by":"publisher","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","volume":"34","author":"S Chen","year":"2018","unstructured":"Chen S, Zhou Y, Chen Y, Gu J (2018) Fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics 34:i884\u2013i890. https:\/\/doi.org\/10.1093\/bioinformatics\/bty560","journal-title":"Bioinformatics"},{"key":"2290_CR15","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1111\/j.1469-185X.2011.00177.x","volume":"86","author":"M Cieslak","year":"2011","unstructured":"Cieslak M, Reissmann M, Hofreiter M, Ludwig A (2011) Colours of domestication. Biol Rev 86:885\u2013899. https:\/\/doi.org\/10.1111\/j.1469-185X.2011.00177.x","journal-title":"Biol Rev"},{"key":"2290_CR16","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, snpeff: SNPs in the genome of drosophila melanogaster strain w1118; iso-2; iso-3. Fly 6:80\u201392. https:\/\/doi.org\/10.4161\/fly.19695","journal-title":"Fly"},{"key":"2290_CR17","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1038\/nature10757","volume":"482","author":"K Durkin","year":"2012","unstructured":"Durkin K, Coppieters W, Dr\u00f6gem\u00fcller C et al (2012) Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature 482:81\u201384. https:\/\/doi.org\/10.1038\/nature10757","journal-title":"Nature"},{"key":"2290_CR18","first-page":"269","volume":"129","author":"K Fleck","year":"2016","unstructured":"Fleck K, Erhardt G, L\u00fchken G (2016) From single nucleotide substitutions up to chromosomal deletions: genetic pause of leucism-associated disorders in animals. Berl Munch Tierarztl Wochenschr 129:269\u2013281","journal-title":"Berl Munch Tierarztl Wochenschr"},{"key":"2290_CR19","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1111\/age.13055","volume":"52","author":"S Floriot","year":"2021","unstructured":"Floriot S, Duchesne A, Grohs C et al (2021) A missense mutation in the FZD7 gene is associated with dilution of the red areas of the coat in Montb\u00e9liarde cattle. Anim Genet 52:351\u2013355. https:\/\/doi.org\/10.1111\/age.13055","journal-title":"Anim Genet"},{"key":"2290_CR20","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/ng0195-92","volume":"9","author":"K Fukai","year":"1995","unstructured":"Fukai K, Holmes SA, Lucchese NJ et al (1995) Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9:92\u201395. https:\/\/doi.org\/10.1038\/ng0195-92","journal-title":"Nat Genet"},{"key":"2290_CR21","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1136\/jmg.28.7.464","volume":"28","author":"LB Giebel","year":"1991","unstructured":"Giebel LB, Musarella MA, Spritz RA (1991) A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J Med Genet 28:464\u2013467. https:\/\/doi.org\/10.1136\/jmg.28.7.464","journal-title":"J Med Genet"},{"key":"2290_CR22","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s12711-020-00599-7","volume":"53","author":"W Gorssen","year":"2021","unstructured":"Gorssen W, Meyermans R, Janssens S, Buys N (2021) A publicly available repository of ROH Islands reveals signatures of selection in different livestock and pet species. Genet Sel Evol 53:2. https:\/\/doi.org\/10.1186\/s12711-020-00599-7","journal-title":"Genet Sel Evol"},{"key":"2290_CR23","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1750-1172-2-43","volume":"2","author":"K Gr\u00f8nskov","year":"2007","unstructured":"Gr\u00f8nskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43. https:\/\/doi.org\/10.1186\/1750-1172-2-43","journal-title":"Orphanet J Rare Dis"},{"key":"2290_CR24","doi-asserted-by":"publisher","unstructured":"Guti\u00e9rrez-Gil B, Arranz JJ, Wiener P (2015) An interpretive review of selective sweep studies in Bos Taurus cattle populations: identification of unique and shared selection signals across breeds. Front Genet 6. https:\/\/doi.org\/10.3389\/fgene.2015.00167","DOI":"10.3389\/fgene.2015.00167"},{"key":"2290_CR25","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1111\/age.12920","volume":"51","author":"IM H\u00e4fliger","year":"2020","unstructured":"H\u00e4fliger IM, Hirter N, Paris JM et al (2020a) A de novo germline mutation of KIT in a white-spotted brown Swiss cow. Anim Genet 51:449\u2013452. https:\/\/doi.org\/10.1111\/age.12920","journal-title":"Anim Genet"},{"key":"2290_CR26","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1111\/age.12923","volume":"51","author":"IM H\u00e4fliger","year":"2020","unstructured":"H\u00e4fliger IM, Wiedemar N, \u0160vara T et al (2020b) Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome. Anim Genet 51:382\u2013390. https:\/\/doi.org\/10.1111\/age.12923","journal-title":"Anim Genet"},{"key":"2290_CR27","doi-asserted-by":"publisher","DOI":"10.1186\/1297-9686-46-4","volume":"46","author":"LLH Hanna","year":"2014","unstructured":"Hanna LLH, Sanders JO, Riley DG et al (2014) Identification of a major locus interacting with MC1R and modifying black coat color in an F\u2082 Nellore-Angus population. Genet Sel Evol 46:4. https:\/\/doi.org\/10.1186\/1297-9686-46-4","journal-title":"Genet Sel Evol"},{"key":"2290_CR28","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1146\/annurev-animal-020518-115024","volume":"7","author":"BJ Hayes","year":"2019","unstructured":"Hayes BJ, Daetwyler HD (2019a) 1000 bull genomes project to map simple and complex genetic traits in cattle: applications and outcomes. Annu Rev Anim Biosci 7:89\u2013102. https:\/\/doi.org\/10.1146\/annurev-animal-020518-115024","journal-title":"Annu Rev Anim Biosci"},{"key":"2290_CR29","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.3390\/ani12121509","volume":"12","author":"Y He","year":"2022","unstructured":"He Y, Huang Y, Wang S et al (2022) Hereditary basis of coat color and excellent feed conversion rate of red Angus cattle by next-generation sequencing data. Animals 12:1509. https:\/\/doi.org\/10.3390\/ani12121509","journal-title":"Animals"},{"key":"2290_CR30","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s003359900090","volume":"7","author":"H Joerg","year":"1996","unstructured":"Joerg H, Fries HR, Meijerink E, Stranzinger GF (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mamm Genome 7:317\u2013318. https:\/\/doi.org\/10.1007\/s003359900090","journal-title":"Mamm Genome"},{"key":"2290_CR31","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1007\/s00439-003-0998-1","volume":"113","author":"RA King","year":"2003","unstructured":"King RA, Pietsch J, Fryer JP et al (2003) Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet 113:502\u2013513. https:\/\/doi.org\/10.1007\/s00439-003-0998-1","journal-title":"Hum Genet"},{"key":"2290_CR32","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1111\/j.1365-2052.2007.01569.x","volume":"38","author":"C K\u00fchn","year":"2007","unstructured":"K\u00fchn C, Weikard R (2007) An investigation into the genetic background of coat colour dilution in a Charolais x German Holstein F2 resource population. Anim Genet 38:109\u2013113. https:\/\/doi.org\/10.1111\/j.1365-2052.2007.01569.x","journal-title":"Anim Genet"},{"key":"2290_CR33","doi-asserted-by":"publisher","first-page":"9812","DOI":"10.1002\/anie.201704616","volume":"56","author":"X Lai","year":"2017","unstructured":"Lai X, Wichers HJ, Soler-Lopez M, Dijkstra BW (2017) Structure of human tyrosinase related protein\u20051 reveals a binuclear zinc active site important for melanogenesis. Angew Chem Int Ed 56:9812\u20139815. https:\/\/doi.org\/10.1002\/anie.201704616","journal-title":"Angew Chem Int Ed"},{"key":"2290_CR34","doi-asserted-by":"publisher","first-page":"3598","DOI":"10.1172\/JCI92171","volume":"127","author":"D Lessel","year":"2017","unstructured":"Lessel D, Wu D, Trujillo C et al (2017) Dysfunction of the MDM2\/p53 axis is linked to premature aging. J Clin Invest 127:3598\u20133608. https:\/\/doi.org\/10.1172\/JCI92171","journal-title":"J Clin Invest"},{"key":"2290_CR35","unstructured":"Mehta PA, Ebens C (2021) In: GeneReviews\u00ae (ed) Fanconi anemia. University of Washington, Seatle. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1401\/"},{"key":"2290_CR36","doi-asserted-by":"publisher","DOI":"10.1101\/gr.279064.124","author":"S Milia","year":"2024","unstructured":"Milia S, Leonard A, Mapel XM et al (2024) Taurine pangenome uncovers a segmental duplication upstream of KIT associated with depigmentation in white-headed cattle. Genome Res Gr. https:\/\/doi.org\/10.1101\/gr.279064.124. .279064.124","journal-title":"Genome Res Gr"},{"key":"2290_CR37","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1093\/emboj\/21.1.175","volume":"21","author":"K Miyagawa","year":"2002","unstructured":"Miyagawa K (2002) A role for RAD54B in homologous recombination in human cells. EMBO J 21:175\u2013180. https:\/\/doi.org\/10.1093\/emboj\/21.1.175","journal-title":"EMBO J"},{"key":"2290_CR38","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00105","volume":"9","author":"A Nazari-Ghadikolaei","year":"2018","unstructured":"Nazari-Ghadikolaei A, Mehrabani-Yeganeh H, Miarei-Aashtiani SR et al (2018) Genome-wide association studies identify candidate genes for coat color and Mohair traits in the Iranian Markhoz goat. Front Genet 9:105. https:\/\/doi.org\/10.3389\/fgene.2018.00105","journal-title":"Front Genet"},{"key":"2290_CR39","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812\u20133814. https:\/\/doi.org\/10.1093\/nar\/gkg509","journal-title":"Nucleic Acids Res"},{"key":"2290_CR40","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1093\/oxfordjournals.jhered.a109437","volume":"72","author":"TA Olson","year":"1981","unstructured":"Olson TA (1981) The genetic basis for piebald patterns in cattle. J Hered 72:113\u2013116. https:\/\/doi.org\/10.1093\/oxfordjournals.jhered.a109437","journal-title":"J Hered"},{"key":"2290_CR41","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.arr.2016.03.002","volume":"33","author":"J Oshima","year":"2017","unstructured":"Oshima J, Sidorova JM, Monnat RJ (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33:105\u2013114. https:\/\/doi.org\/10.1016\/j.arr.2016.03.002","journal-title":"Ageing Res Rev"},{"key":"2290_CR42","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1002\/pro.3978","volume":"30","author":"R Oughtred","year":"2021","unstructured":"Oughtred R, Rust J, Chang C et al (2021) The <\u2009scp\u2009>\u2009biogrid\u2009database: A comprehensive biomedical resource of curated protein, genetic, and chemical interactions. Protein Sci 30:187\u2013200. https:\/\/doi.org\/10.1002\/pro.3978","journal-title":"Protein Sci"},{"key":"2290_CR43","doi-asserted-by":"publisher","first-page":"81","DOI":"10.15406\/japlr.2020.09.00356","volume":"9","author":"M Patel","year":"2020","unstructured":"Patel M, Sergeev Y (2020) Functional in silico analysis of human tyrosinase and OCA1 associated mutations. J Anal Pharm Res 9:81\u201389","journal-title":"J Anal Pharm Res"},{"key":"2290_CR44","doi-asserted-by":"publisher","unstructured":"Pejaver V, Urresti J, Lugo-Martinez J et al (2017) MutPred2: inferring the molecular and phenotypic impact of amino acid variants. bioRxiv 134981. https:\/\/doi.org\/10.1101\/134981","DOI":"10.1101\/134981"},{"key":"2290_CR45","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1111\/age.13327","volume":"54","author":"JL Petersen","year":"2023","unstructured":"Petersen JL, Sieck RL, Steffen DJ (2023) White coat color of a black Angus calf attributed to an occurrence of the delR217\u2009variant of MITF. Anim Genet 54:549\u2013552. https:\/\/doi.org\/10.1111\/age.13327","journal-title":"Anim Genet"},{"key":"2290_CR46","doi-asserted-by":"publisher","first-page":"e28857","DOI":"10.1371\/journal.pone.0028857","volume":"6","author":"U Philipp","year":"2011","unstructured":"Philipp U, Lupp B, M\u00f6mke S et al (2011) A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. PLoS One 6:e28857. https:\/\/doi.org\/10.1371\/journal.pone.0028857","journal-title":"PLoS One"},{"key":"2290_CR47","doi-asserted-by":"publisher","first-page":"1389","DOI":"10.1126\/science.adf3406","volume":"382","author":"L Piot","year":"2023","unstructured":"Piot L, Heroven C, Bossi S et al (2023) GluD1 binds GABA and controls inhibitory plasticity. Science 382:1389\u20131394. https:\/\/doi.org\/10.1126\/science.adf3406","journal-title":"Science"},{"key":"2290_CR48","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2290_CR49","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-17-0337","volume":"77","author":"JT Robinson","year":"2017","unstructured":"Robinson JT, Thorvaldsd\u00f3ttir H, Wenger AM et al (2017) Variant review with the integrative genomics viewer. Cancer Res 77:e31\u2013e34. https:\/\/doi.org\/10.1158\/0008-5472.CAN-17-0337","journal-title":"Cancer Res"},{"key":"2290_CR50","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/gigascience\/giaa021","volume":"9","author":"BD Rosen","year":"2020","unstructured":"Rosen BD, Bickhart DM, Schnabel RD et al (2020) De Novo assembly of the cattle reference genome with single-molecule sequencing. Gigascience 9:1\u20139. https:\/\/doi.org\/10.1093\/gigascience\/giaa021","journal-title":"Gigascience"},{"key":"2290_CR51","doi-asserted-by":"publisher","DOI":"10.1186\/s12711-017-0349-7","volume":"49","author":"S Rothammer","year":"2017","unstructured":"Rothammer S, Kunz E, Seichter D et al (2017) Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. Genet Sel Evol 49:73. https:\/\/doi.org\/10.1186\/s12711-017-0349-7","journal-title":"Genet Sel Evol"},{"key":"2290_CR52","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s00335-002-2249-5","volume":"15","author":"SM Schmutz","year":"2004","unstructured":"Schmutz SM, Berryere TG, Ciobanu DC et al (2004) A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mamm Genome 15:62\u201367. https:\/\/doi.org\/10.1007\/s00335-002-2249-5","journal-title":"Mamm Genome"},{"key":"2290_CR53","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1111\/j.1755-148X.2008.00506.x","volume":"21","author":"AJ Thomas","year":"2008","unstructured":"Thomas AJ, Erickson CA (2008) The making of a melanocyte: the specification of melanoblasts from the neural crest. Pigment Cell Melanoma Res 21:598\u2013610. https:\/\/doi.org\/10.1111\/j.1755-148X.2008.00506.x","journal-title":"Pigment Cell Melanoma Res"},{"key":"2290_CR54","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s12711-021-00633-2","volume":"53","author":"BB Trigo","year":"2021","unstructured":"Trigo BB, Utsunomiya ATH, Fortunato AAAD et al (2021) Variants at the ASIP locus contribute to coat color darkening in Nellore cattle. Genet Selection Evol 53:40. https:\/\/doi.org\/10.1186\/s12711-021-00633-2","journal-title":"Genet Selection Evol"},{"key":"2290_CR55","doi-asserted-by":"publisher","first-page":"1260419","DOI":"10.1126\/science.1260419","volume":"347","author":"M Uhl\u00e9n","year":"2015","unstructured":"Uhl\u00e9n M, Fagerberg L, Hallstr\u00f6m BM et al (2015) Proteomics. Tissue-based map of the human proteome. Science 347:1260419. https:\/\/doi.org\/10.1126\/science.1260419","journal-title":"Science"},{"key":"2290_CR56","doi-asserted-by":"publisher","first-page":"3821","DOI":"10.3390\/ani13243821","volume":"13","author":"J Wang","year":"2023","unstructured":"Wang J, Fan T, Du Z et al (2023) Genome-wide association analysis identifies the PMEL gene affecting coat color and birth weight in Simmental \u00d7 Holstein. Animals 13:3821. https:\/\/doi.org\/10.3390\/ani13243821","journal-title":"Animals"},{"key":"2290_CR57","doi-asserted-by":"publisher","DOI":"10.3390\/ani14233493","author":"Q Xu","year":"2024","unstructured":"Xu Q, Luo Y, Chao Z et al (2024) Discovery of potential candidate genes for coat colour in Wuzhishan pigs by integrating SNPs and mRNA expression analysis. Animals. https:\/\/doi.org\/10.3390\/ani14233493","journal-title":"Animals"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-025-02290-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-025-02290-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-025-02290-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,7]],"date-time":"2025-09-07T22:52:56Z","timestamp":1757285576000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-025-02290-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,6]]},"references-count":57,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["2290"],"URL":"https:\/\/doi.org\/10.1007\/s00438-025-02290-2","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,6]]},"assertion":[{"value":"6 June 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 September 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study did not require official or institutional ethical approval as \u2018non-experimental clinical veterinary practices\u2019 were performed. All animals in this study were examined with the consent of their owners and handled according to good ethical standards. The Cantonal Committee for Animal Experiments approved the collection of blood samples from cattle that were used in this study (Canton of Bern; permit BE 94\/2022).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"\u00a0Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"91"}}