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Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses
Summary Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid‐coloured horses) and 70 Spanish Purebred horses (PRE, different coat...
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| Published in: | Animal genetics 2017-06, Vol.48 (3), p.349-352 |
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| cites | cdi_FETCH-LOGICAL-c4618-e0a751fa7155d3978005706c4bf6bed9c7757a55988e1a14e908bdd548fe4ee93 |
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| container_start_page | 349 |
| container_title | Animal genetics |
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| creator | Negro, S. Imsland, F. Valera, M. Molina, A. Solé, M. Andersson, L. |
| description | Summary
Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid‐coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum‐likelihood chi‐square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P |
| doi_str_mv | 10.1111/age.12528 |
| format | article |
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Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid‐coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum‐likelihood chi‐square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%. The g.20147039C>T intronic variant located 29.9 kb downstream from the transcription start site of the MITF gene was associated with less white markings on forelimbs (P < 0.05) in PRMe horses, with a relative contribution of 63.9%, whereas in PRE horses this variant was associated with white facial markings (P < 0.05), with a relative contribution of 63.9%. No significant associations were found for PAX3 variants in these breeds. These results show that KIT and MITF variants are involved in the white marking patterns of both PRMe and PRE horses, providing breeders with an opportunity to use genetic testing to aid in breeding for their desired level of white markings.</description><identifier>ISSN: 0268-9146</identifier><identifier>ISSN: 1365-2052</identifier><identifier>EISSN: 1365-2052</identifier><identifier>DOI: 10.1111/age.12528</identifier><identifier>PMID: 28084638</identifier><identifier>CODEN: ANGEE3</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Animals ; Breeding ; Genetic Association Studies ; Genetics and Breeding ; Genetik och förädling ; Hair Color - genetics ; Horses - genetics ; Menorca Purebred ; Microphthalmia-Associated Transcription Factor - genetics ; Models, Genetic ; PAX3 Transcription Factor - genetics ; phenotypic variance ; Proto-Oncogene Proteins c-kit - genetics ; Purebred ; SNP ; Spain ; white spotting</subject><ispartof>Animal genetics, 2017-06, Vol.48 (3), p.349-352</ispartof><rights>2017 Stichting International Foundation for Animal Genetics</rights><rights>2017 Stichting International Foundation for Animal Genetics.</rights><rights>Copyright © 2017 Stichting International Foundation for Animal Genetics</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4618-e0a751fa7155d3978005706c4bf6bed9c7757a55988e1a14e908bdd548fe4ee93</citedby><cites>FETCH-LOGICAL-c4618-e0a751fa7155d3978005706c4bf6bed9c7757a55988e1a14e908bdd548fe4ee93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28084638$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-322506$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttps://res.slu.se/id/publ/82662$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Negro, S.</creatorcontrib><creatorcontrib>Imsland, F.</creatorcontrib><creatorcontrib>Valera, M.</creatorcontrib><creatorcontrib>Molina, A.</creatorcontrib><creatorcontrib>Solé, M.</creatorcontrib><creatorcontrib>Andersson, L.</creatorcontrib><creatorcontrib>Sveriges lantbruksuniversitet</creatorcontrib><title>Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses</title><title>Animal genetics</title><addtitle>Anim Genet</addtitle><description>Summary
Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid‐coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum‐likelihood chi‐square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%. The g.20147039C>T intronic variant located 29.9 kb downstream from the transcription start site of the MITF gene was associated with less white markings on forelimbs (P < 0.05) in PRMe horses, with a relative contribution of 63.9%, whereas in PRE horses this variant was associated with white facial markings (P < 0.05), with a relative contribution of 63.9%. No significant associations were found for PAX3 variants in these breeds. These results show that KIT and MITF variants are involved in the white marking patterns of both PRMe and PRE horses, providing breeders with an opportunity to use genetic testing to aid in breeding for their desired level of white markings.</description><subject>Animals</subject><subject>Breeding</subject><subject>Genetic Association Studies</subject><subject>Genetics and Breeding</subject><subject>Genetik och förädling</subject><subject>Hair Color - genetics</subject><subject>Horses - genetics</subject><subject>Menorca Purebred</subject><subject>Microphthalmia-Associated Transcription Factor - genetics</subject><subject>Models, Genetic</subject><subject>PAX3 Transcription Factor - genetics</subject><subject>phenotypic variance</subject><subject>Proto-Oncogene Proteins c-kit - genetics</subject><subject>Purebred</subject><subject>SNP</subject><subject>Spain</subject><subject>white spotting</subject><issn>0268-9146</issn><issn>1365-2052</issn><issn>1365-2052</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNqN0V1rFDEUBuAgil2rF_4BCXijsNMmmcnHXC61rYsVBVcRb0Jm5sxu6uxkzZlx2X9v2qm9EArm5kB4eDmcl5CXnJ3w9E7dGk64kMI8IjOeK5kJJsVjMmNCmazkhToizxCvGWOGa_6UHAnDTKFyMyM_Foih9m7woaeud90BPdLQ0g_L1Zx-XK4u5um7oZ8X33P620Xv-gHp3g8but_4AejWxZ--XyP1Pf2yc73HDd2EiIDPyZPWdQgv7uYx-Xpxvjp7n119ulyeLa6yulDcZMCclrx1mkvZ5KU2jEnNVF1UraqgKWutpXZSlsYAd7yAkpmqaWRhWigAyvyYZFMu7mE3VnYXfVrqYIPzFruxcvFmWARrhFIi-fmD_p3_trAhru042lwIyVTibya-i-HXCDjYrccaus71EEa03JQ610xr9h9U8aIwjMtEX_9Dr8MY0_1vAznjZTpKUm8nVceAGKG9X5Yze1O9TdXb2-qTfXWXOFZbaO7l364TOJ3A3ndweDjJLi7Pp8g_Iye1hA</recordid><startdate>201706</startdate><enddate>201706</enddate><creator>Negro, S.</creator><creator>Imsland, F.</creator><creator>Valera, M.</creator><creator>Molina, A.</creator><creator>Solé, M.</creator><creator>Andersson, L.</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>DF2</scope></search><sort><creationdate>201706</creationdate><title>Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses</title><author>Negro, S. ; Imsland, F. ; Valera, M. ; Molina, A. ; Solé, M. ; Andersson, L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4618-e0a751fa7155d3978005706c4bf6bed9c7757a55988e1a14e908bdd548fe4ee93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Animals</topic><topic>Breeding</topic><topic>Genetic Association Studies</topic><topic>Genetics and Breeding</topic><topic>Genetik och förädling</topic><topic>Hair Color - genetics</topic><topic>Horses - genetics</topic><topic>Menorca Purebred</topic><topic>Microphthalmia-Associated Transcription Factor - genetics</topic><topic>Models, Genetic</topic><topic>PAX3 Transcription Factor - genetics</topic><topic>phenotypic variance</topic><topic>Proto-Oncogene Proteins c-kit - genetics</topic><topic>Purebred</topic><topic>SNP</topic><topic>Spain</topic><topic>white spotting</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Negro, S.</creatorcontrib><creatorcontrib>Imsland, F.</creatorcontrib><creatorcontrib>Valera, M.</creatorcontrib><creatorcontrib>Molina, A.</creatorcontrib><creatorcontrib>Solé, M.</creatorcontrib><creatorcontrib>Andersson, L.</creatorcontrib><creatorcontrib>Sveriges lantbruksuniversitet</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Uppsala universitet</collection><jtitle>Animal genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Negro, S.</au><au>Imsland, F.</au><au>Valera, M.</au><au>Molina, A.</au><au>Solé, M.</au><au>Andersson, L.</au><aucorp>Sveriges lantbruksuniversitet</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses</atitle><jtitle>Animal genetics</jtitle><addtitle>Anim Genet</addtitle><date>2017-06</date><risdate>2017</risdate><volume>48</volume><issue>3</issue><spage>349</spage><epage>352</epage><pages>349-352</pages><issn>0268-9146</issn><issn>1365-2052</issn><eissn>1365-2052</eissn><coden>ANGEE3</coden><abstract>Summary
Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid‐coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum‐likelihood chi‐square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%. The g.20147039C>T intronic variant located 29.9 kb downstream from the transcription start site of the MITF gene was associated with less white markings on forelimbs (P < 0.05) in PRMe horses, with a relative contribution of 63.9%, whereas in PRE horses this variant was associated with white facial markings (P < 0.05), with a relative contribution of 63.9%. No significant associations were found for PAX3 variants in these breeds. These results show that KIT and MITF variants are involved in the white marking patterns of both PRMe and PRE horses, providing breeders with an opportunity to use genetic testing to aid in breeding for their desired level of white markings.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>28084638</pmid><doi>10.1111/age.12528</doi><tpages>4</tpages></addata></record> |
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| ispartof | Animal genetics, 2017-06, Vol.48 (3), p.349-352 |
| issn | 0268-9146 1365-2052 1365-2052 |
| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Animals Breeding Genetic Association Studies Genetics and Breeding Genetik och förädling Hair Color - genetics Horses - genetics Menorca Purebred Microphthalmia-Associated Transcription Factor - genetics Models, Genetic PAX3 Transcription Factor - genetics phenotypic variance Proto-Oncogene Proteins c-kit - genetics Purebred SNP Spain white spotting |
| title | Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses |
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