Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses
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{"title"=>"Mutations in MITF and PAX3 cause \"splashed white\" and other white spotting phenotypes in horses", "type"=>"journal", "authors"=>[{"first_name"=>"Regula", "last_name"=>"Hauswirth", "scopus_author_id"=>"55207174200"}, {"first_name"=>"Bianca", "last_name"=>"Haase", "scopus_author_id"=>"14323203200"}, {"first_name"=>"Marlis", "last_name"=>"Blatter", "scopus_author_id"=>"55206825500"}, {"first_name"=>"Samantha A.", "last_name"=>"Brooks", "scopus_author_id"=>"7401651238"}, {"first_name"=>"Dominik", "last_name"=>"Burger", "scopus_author_id"=>"7203040738"}, {"first_name"=>"Cord", "last_name"=>"Drögemüller", "scopus_author_id"=>"7005041360"}, {"first_name"=>"Vincent", "last_name"=>"Gerber", "scopus_author_id"=>"7005969573"}, {"first_name"=>"Diana", "last_name"=>"Henke", "scopus_author_id"=>"24476148700"}, {"first_name"=>"Jozef", "last_name"=>"Janda", "scopus_author_id"=>"56915408400"}, {"first_name"=>"Rony", "last_name"=>"Jude", "scopus_author_id"=>"6603063570"}, {"first_name"=>"K. Gary", "last_name"=>"Magdesian", "scopus_author_id"=>"7003554053"}, {"first_name"=>"Jacqueline M.", "last_name"=>"Matthews", "scopus_author_id"=>"7402837574"}, {"first_name"=>"Pierre André", "last_name"=>"Poncet", "scopus_author_id"=>"7006247189"}, {"first_name"=>"Vilhjálmur", "last_name"=>"Svansson", "scopus_author_id"=>"6603063758"}, {"first_name"=>"Teruaki", "last_name"=>"Tozaki", "scopus_author_id"=>"56351968100"}, {"first_name"=>"Lorna", "last_name"=>"Wilkinson-White", "scopus_author_id"=>"18438845200"}, {"first_name"=>"M. Cecilia T.", "last_name"=>"Penedo", "scopus_author_id"=>"57194578674"}, {"first_name"=>"Stefan", "last_name"=>"Rieder", "scopus_author_id"=>"6701509161"}, {"first_name"=>"Tosso", "last_name"=>"Leeb", "scopus_author_id"=>"7006758115"}], "year"=>2012, "source"=>"PLoS Genetics", "identifiers"=>{"issn"=>"15537390", "scopus"=>"2-s2.0-84860546946", "pui"=>"364739037", "doi"=>"10.1371/journal.pgen.1002653", "isbn"=>"1553-7404 (Electronic)\\r1553-7390 (Linking)", "sgr"=>"84860546946", "pmid"=>"22511888"}, "id"=>"9d977543-a4c9-38c6-bda6-0bbbcd267a4c", "abstract"=>"During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. The \"splashed white\" pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white horses are deaf. We analyzed a Quarter Horse family segregating for the splashed white coat color. Genome-wide linkage analysis in 31 horses gave a positive LOD score of 1.6 in a region on chromosome 6 containing the PAX3 gene. However, the linkage data were not in agreement with a monogenic inheritance of a single fully penetrant mutation. We sequenced the PAX3 gene and identified a missense mutation in some, but not all, splashed white Quarter Horses. Genome-wide association analysis indicated a potential second signal near MITF. We therefore sequenced the MITF gene and found a 10 bp insertion in the melanocyte-specific promoter. The MITF promoter variant was present in some splashed white Quarter Horses from the studied family, but also in splashed white horses from other horse breeds. Finally, we identified two additional non-synonymous mutations in the MITF gene in unrelated horses with white spotting phenotypes. Thus, several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes.", "link"=>"http://www.mendeley.com/research/mutations-mitf-pax3-cause-splashed-white-other-white-spotting-phenotypes-horses", "reader_count"=>58, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>4, "Researcher"=>16, "Student > Ph. D. Student"=>14, "Student > Postgraduate"=>4, "Other"=>2, "Student > Master"=>7, "Student > Bachelor"=>4, "Lecturer"=>1, "Lecturer > Senior Lecturer"=>2, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>3, "Professor > Associate Professor"=>4, "Researcher"=>16, "Student > Ph. D. Student"=>14, "Student > Postgraduate"=>4, "Other"=>2, "Student > Master"=>7, "Student > Bachelor"=>4, "Lecturer"=>1, "Lecturer > Senior Lecturer"=>2, "Professor"=>1}, "reader_count_by_subject_area"=>{"Engineering"=>1, "Unspecified"=>3, "Environmental Science"=>1, "Biochemistry, Genetics and Molecular Biology"=>5, "Mathematics"=>1, "Agricultural and Biological Sciences"=>39, "Medicine and Dentistry"=>2, "Veterinary Science and Veterinary Medicine"=>3, "Social Sciences"=>2, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Social Sciences"=>{"Social Sciences"=>2}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>39}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Mathematics"=>{"Mathematics"=>1}, "Unspecified"=>{"Unspecified"=>3}, "Environmental Science"=>{"Environmental Science"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>3}}, "reader_count_by_country"=>{"United States"=>1, "Brazil"=>1, "Iceland"=>1}, "group_count"=>2}

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  • {"files"=>["https://ndownloader.figshare.com/files/336127", "https://ndownloader.figshare.com/files/336175", "https://ndownloader.figshare.com/files/336218", "https://ndownloader.figshare.com/files/336360", "https://ndownloader.figshare.com/files/336423", "https://ndownloader.figshare.com/files/336481", "https://ndownloader.figshare.com/files/336516", "https://ndownloader.figshare.com/files/336543", "https://ndownloader.figshare.com/files/336569"], "description"=>"<div><p>During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. The “splashed white” pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white horses are deaf. We analyzed a Quarter Horse family segregating for the splashed white coat color. Genome-wide linkage analysis in 31 horses gave a positive LOD score of 1.6 in a region on chromosome 6 containing the <em>PAX3</em> gene. However, the linkage data were not in agreement with a monogenic inheritance of a single fully penetrant mutation. We sequenced the <em>PAX3</em> gene and identified a missense mutation in some, but not all, splashed white Quarter Horses. Genome-wide association analysis indicated a potential second signal near <em>MITF</em>. We therefore sequenced the <em>MITF</em> gene and found a 10 bp insertion in the melanocyte-specific promoter. The <em>MITF</em> promoter variant was present in some splashed white Quarter Horses from the studied family, but also in splashed white horses from other horse breeds. Finally, we identified two additional non-synonymous mutations in the <em>MITF</em> gene in unrelated horses with white spotting phenotypes. Thus, several independent mutations in <em>MITF</em> and <em>PAX3</em> together with known variants in the <em>EDNRB</em> and <em>KIT</em> genes explain a large proportion of horses with the more extreme white spotting phenotypes.</p> </div>", "links"=>[], "tags"=>["mutations", "spotting", "phenotypes", "horses"], "article_id"=>126408, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.s001", "https://dx.doi.org/10.1371/journal.pgen.1002653.s002", "https://dx.doi.org/10.1371/journal.pgen.1002653.s003", "https://dx.doi.org/10.1371/journal.pgen.1002653.s004", "https://dx.doi.org/10.1371/journal.pgen.1002653.s005", "https://dx.doi.org/10.1371/journal.pgen.1002653.s006", "https://dx.doi.org/10.1371/journal.pgen.1002653.s007", "https://dx.doi.org/10.1371/journal.pgen.1002653.s008", "https://dx.doi.org/10.1371/journal.pgen.1002653.s009"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Mutations_in_MITF_and_PAX3_Cause_Splashed_White_and_Other_White_Spotting_Phenotypes_in_Horses/126408", "title"=>"Mutations in <em>MITF</em> and <em>PAX3</em> Cause “Splashed White” and Other White Spotting Phenotypes in Horses", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2012-04-12 01:46:48"}
  • {"files"=>["https://ndownloader.figshare.com/files/654094"], "description"=>"<p>Note that the expression of the phenotype is quite variable. Splashed white may be caused by different mutations, even within closely related horses. (A) Splashed white bay horse. The unpigmented areas are relatively small, but the horse has blue eyes. (B) Typical expression of the splashed white phenotype in a chestnut horse with blue eyes. (C) A splashed white chestnut horse with normal eye color and a relatively small blaze. (D) Splashed white coat color and brown eyes in a chestnut horse. (E, F) Two horses carrying both the <i>PAX3<sup>C70Y</sup></i> and <i>MITF<sup>prom1</sup></i> alleles with typical splashed white phenotypes. Horses carrying one copy of either <i>PAX3<sup>C70Y</sup></i> and/or <i>MITF<sup>prom1</sup></i> show overlapping phenotypes. None of the horses in this figure carry the <i>EDNRB<sup>I118K</sup></i> (overo) allele.</p>", "links"=>[], "tags"=>["splashed", "horses"], "article_id"=>324570, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Phenotypes_of_splashed_white_horses_from_a_Quarter_Horse_family_/324570", "title"=>"Phenotypes of splashed white horses from a Quarter Horse family.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:16:10"}
  • {"files"=>["https://ndownloader.figshare.com/files/654240"], "description"=>"<p>The cysteine at position 70 is conserved in all known PAX paralogs.</p>", "links"=>[], "tags"=>["genetics and genomics", "biotechnology", "developmental biology"], "article_id"=>324706, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Region_around_the_PAX3_p_C70Y_mutation_/324706", "title"=>"Region around the PAX3:p.C70Y mutation.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:18:26"}
  • {"files"=>["https://ndownloader.figshare.com/files/654347"], "description"=>"<p>The depicted region corresponds to positions −89 to +1 with respect to the transcription start site and is in reverse complementary orientation to the genomic reference sequence (ECA16:20,117,350–20,117,261; EquCab2.0). The three vertical red lines in the dog and mouse sequences represent small insertions. In some splashed white horses, an 11 bp motif shown in red replaces an adenine, which is part of a highly conserved PAX3 transcription factor binding site in the wild-type sequence. The inserted 11 bp sequence may have arisen by duplication from an identical sequence motif a few nucleotides further downstream (underlined).</p>", "links"=>[], "tags"=>["melanocyte-specific", "promoter"], "article_id"=>324814, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g003"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Proximal_melanocyte_specific_promoter_of_the_MITF_gene_/324814", "title"=>"Proximal melanocyte-specific promoter of the <i>MITF</i> gene.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:20:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/654414"], "description"=>"<p>Raw phenotypes for individual horses are indicated as black circles. The average values for each genotype class are indicated by red lines. While there is considerable variation in the phenotypic expression, the average proportion of white face area is higher in chestnut horses versus bay horses and it is also higher in horses carrying both the <i>MITF<sup>prom1</sup></i> and the <i>PAX3<sup>C70Y</sup></i> allele than in horses carrying only one of the two splashed white alleles (p<0.05, two-sided Welch t-test). The white face areas of all horses and the p-values between all different genotype classes are given in <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653#pgen.1002653.s007\" target=\"_blank\">Table S2</a>.</p>", "links"=>[], "tags"=>["splashed", "horses"], "article_id"=>324881, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g004"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_White_face_area_in_splashed_white_Quarter_Horses_with_specific_genotypes_/324881", "title"=>"White face area in splashed white Quarter Horses with specific genotypes.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:21:21"}
  • {"files"=>["https://ndownloader.figshare.com/files/654547"], "description"=>"<p>(A) American Paint Horse with a very pronounced depigmentation phenotype. In addition to being homozygous for the <i>MITF<sup>prom1</sup></i> allele, it also carries a private allele at the <i>KIT</i> gene (p.H40Q), which may enhance the depigmentation phenotype. The functional significance of the p.H40Q variant is unclear at the moment. (B) This Quarter Horse is also homozygous for the <i>MITF<sup>prom1</sup></i> allele, but has substantially more residual pigmentation than the horse shown in panel A. (C) A Trakehner horse homozygous for the <i>MITF<sup>prom1</sup></i> allele. (D) A completely white horse with multiple splashed white alleles. (E) Quarter Horse with the rare <i>MITF<sup>C280Sfs*20</sup></i> allele. This horse has a very pronounced splashed white phenotype with blue eyes and a largely unpigmented head and belly. (F) A compound heterozygote for two different <i>MITF</i> mutant alleles is completely white. None of the horses in this figure carry the <i>EDNRB<sup>I118K</sup></i> (overo) allele.</p>", "links"=>[], "tags"=>["horses", "combinations", "splashed"], "article_id"=>325018, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g005"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Phenotypes_of_horses_with_different_combinations_of_splashed_white_alleles_/325018", "title"=>"Phenotypes of horses with different combinations of splashed white alleles.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:23:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/654709"], "description"=>"<p>Note the pronounced depigmentation on the body in addition to the large white blaze on the head, the white legs, and the blue eyes. This horse has a bay basic coat color.</p>", "links"=>[], "tags"=>["phenotype", "franches-montagnes"], "article_id"=>325190, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g006"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Macchiato_coat_color_phenotype_in_a_Franches_Montagnes_stallion_/325190", "title"=>"Macchiato coat color phenotype in a Franches-Montagnes stallion.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:26:30"}
  • {"files"=>["https://ndownloader.figshare.com/files/654820"], "description"=>"<p>(A) The basic DNA binding domain in the vicinity of the mutation is 100% identical in vertebrates from mammals to fish. (B) Electrophoretic mobility shift assay (EMSA). Increasing concentrations (given in µM) of recombinant wild-type and mutant MITF protein from <i>E. coli</i> were incubated with a radioactively labeled double-stranded oligonucleotide and run on a non-denaturing polyacrylamide gel. The mutant MITF protein shows a weaker retention band than the wild-type MITF, which indicates a partially defective DNA binding activity (<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653#pgen.1002653.s008\" target=\"_blank\">Table S3</a>).</p>", "links"=>[], "tags"=>["validation"], "article_id"=>325299, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.g007"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Functional_validation_of_the_MITF_p_N310S_mutation_/325299", "title"=>"Functional validation of the MITF:p.N310S mutation.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-04-12 01:28:19"}
  • {"files"=>["https://ndownloader.figshare.com/files/654942"], "description"=>"a<p>numbering refers to NM_001163874.1 (<i>MITF</i>) and XM_001494972.3 (<i>PAX3</i>).</p>b<p>build EquCab 2.0.</p>", "links"=>[], "tags"=>["mutations", "spotting"], "article_id"=>325414, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.t001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Causative_mutations_for_white_spotting_phenotypes_/325414", "title"=>"Causative mutations for white spotting phenotypes.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-04-12 01:30:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/655002"], "description"=>"<p>Results for the three newly described splashed white mutations and the overo mutation <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653#pgen.1002653-Metallinos1\" target=\"_blank\">[15]</a>–<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653#pgen.1002653-Yang1\" target=\"_blank\">[17]</a> are shown.</p>a<p>QH, Quarter Horse; AP, American Paint Horse; HN, Hanoverian; IS, Icelandic Horse; MH, Miniature Horse; OL, Oldenburger; SP, Shetland Pony; TB, Thoroughbred; TR, Trakehner; AS, American Standardbred; FM, Franches-Montagnes; HF, Haflinger; NO, Noriker; WB, European Warmblood.</p>b<p>Gene flow exists between QH and AP. Several horses in our study had double registrations with both the American Quarter Horse Association (AQHA) and the American Paint Horse Association (APHA).</p>c<p>The Icelandic Horses with the splashed white or other white phenotype were not experimentally tested for the absence of the <i>EDNRB<sup>I118K</sup></i>, <i>MITF<sup>C280fs*20</sup></i>, and <i>PAX3<sup>C70Y</sup></i> alleles. They were assumed to be homozygous wildtype at these positions.</p>", "links"=>[], "tags"=>["spotting", "genotypes"], "article_id"=>325468, "categories"=>["Biotechnology", "Genetics", "Developmental Biology"], "users"=>["Regula Hauswirth", "Bianca Haase", "Marlis Blatter", "Samantha A. Brooks", "Dominik Burger", "Cord Drögemüller", "Vincent Gerber", "Diana Henke", "Jozef Janda", "Rony Jude", "K. Gary Magdesian", "Jacqueline M. Matthews", "Pierre-André Poncet", "Vilhjálmur Svansson", "Teruaki Tozaki", "Lorna Wilkinson-White", "M. Cecilia T. Penedo", "Stefan Rieder", "Tosso Leeb"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002653.t002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_of_white_spotting_genotypes_in_different_breeds_/325468", "title"=>"Association of white spotting genotypes in different breeds.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-04-12 01:31:08"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"19", "full-text"=>"20", "pdf"=>"5", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"7", "cited-by"=>"2", "year"=>"2016", "month"=>"11"}
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  • {"unique-ip"=>"19", "full-text"=>"26", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2017", "month"=>"1"}
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  • {"unique-ip"=>"30", "full-text"=>"38", "pdf"=>"2", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"13", "supp-data"=>"8", "cited-by"=>"0", "year"=>"2017", "month"=>"10"}
  • {"unique-ip"=>"25", "full-text"=>"25", "pdf"=>"2", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"11", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"11"}
  • {"unique-ip"=>"17", "full-text"=>"20", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2017", "month"=>"12"}
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  • {"unique-ip"=>"29", "full-text"=>"27", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2018", "month"=>"11"}
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  • {"unique-ip"=>"24", "full-text"=>"24", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"10"}
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  • {"unique-ip"=>"27", "full-text"=>"27", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2020", "month"=>"4"}
  • {"unique-ip"=>"24", "full-text"=>"25", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"5"}
  • {"unique-ip"=>"32", "full-text"=>"37", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2020", "month"=>"6"}
  • {"unique-ip"=>"27", "full-text"=>"23", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"10", "cited-by"=>"0", "year"=>"2020", "month"=>"7"}
  • {"unique-ip"=>"16", "full-text"=>"16", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"8"}
  • {"unique-ip"=>"21", "full-text"=>"17", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"9"}
  • {"unique-ip"=>"26", "full-text"=>"27", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2020", "month"=>"10"}

Relative Metric

{"start_date"=>"2012-01-01T00:00:00Z", "end_date"=>"2012-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Biology and life sciences", "average_usage"=>[322, 550, 671, 773, 864, 955, 1048, 1135, 1223, 1308, 1387, 1465, 1534, 1602, 1673, 1744, 1813, 1885, 1955, 2026, 2093, 2160, 2228, 2290, 2349]}, {"subject_area"=>"/Biology and life sciences/Anatomy", "average_usage"=>[308, 530, 649, 751, 844, 933, 1021, 1107, 1194, 1277, 1357, 1426, 1501, 1572, 1634, 1702, 1768, 1838, 1910, 1976, 2046, 2114, 2181, 2241, 2298]}, {"subject_area"=>"/Medicine and health sciences/Anatomy", "average_usage"=>[307, 529, 649, 751, 845, 936, 1025, 1113, 1197, 1284, 1360, 1432, 1501, 1570, 1632, 1697, 1765, 1834, 1904, 1972, 2041, 2107, 2170, 2231, 2292]}, {"subject_area"=>"/Medicine and health sciences/Anatomy and physiology", "average_usage"=>[308, 539, 659, 759, 852, 941, 1028, 1113, 1197, 1275, 1353, 1423]}]}
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