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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/VJ20.612</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-2549</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ГЕНЕТИКА ЖИВОТНЫХ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ANIMAL GENETICS</subject></subj-group></article-categories><title-group><article-title>Полногеномные ассоциативные исследования распространения пороков развития и других селекционно значимых качественных признаков у потомства хряков крупной белой породы российской селекции</article-title><trans-title-group xml:lang="en"><trans-title>Whole-genome association studies of distribution of developmental abnormalities and other breeding-valuable qualitative traits in offspring of the Russian large-white boars</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Траспов</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Traspov</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><email xlink:type="simple">traspovalex@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Костюнина</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kostyunina</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Белоус</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Belous</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Карпушкина</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Karpushkina</surname><given-names>T. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Свеженцева</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Svejenceva</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зиновьева</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zinovieva</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>пос. Дубровицы, Подольский городской округ, Московская область</p></bio><bio xml:lang="en"><p>Dubrovitzy, Podolsk municipal district, Moscow region</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Федеральный научный центр животноводства – ВИЖ им. академика Л.К. Эрнста<country>Россия</country></aff><aff xml:lang="en">L.K. Ernst Federal Science Center for Animal Husbandry<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>24</day><month>04</month><year>2020</year></pub-date><volume>24</volume><issue>2</issue><fpage>185</fpage><lpage>190</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Траспов А.А., Костюнина О.В., Белоус А.А., Карпушкина Т.В., Свеженцева Н.А., Зиновьева Н.А., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Траспов А.А., Костюнина О.В., Белоус А.А., Карпушкина Т.В., Свеженцева Н.А., Зиновьева Н.А.</copyright-holder><copyright-holder xml:lang="en">Traspov A.A., Kostyunina O.V., Belous A.A., Karpushkina T.V., Svejenceva N.A., Zinovieva N.A.</copyright-holder><license license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://vavilov.elpub.ru/jour/article/view/2549">https://vavilov.elpub.ru/jour/article/view/2549</self-uri><abstract><p>Выявление областей генома, прямо или опосредованно связанных с признаками пороков раз-вития у домашних свиней, может способствовать идентификации генетических мишеней, используемых в качестве биомаркеров индивидуальных особенностей формирования экстерьера, их метаболического статуса,  а также подверженности генетическим заболеваниям. Такие исследования напрямую связаны с повышением экономической эффективности, поскольку позволяют выявлять и исключать из селекционного процесса животных-носителей нежелательных генов, фенотип которых может не проявляться. В данной работе проведен поиск подобных целевых генов и геномных регионов с помощью полногеномных ассоциативных исследований (GWAS) с использованием ДНК-чипов PorcineSNP60K BeadChips (Illumina, San Diego, USA). Проанализировано 48 хряков свиней крупной белой породы селекционно-гибридного центра «Знаменский» Орловской области по 21 недостатку экстерьера и дефектам развития у 39 153 их потомков. Расчеты производили по линейной модели смешанного типа в программном пакете GEMMA. Из изначального сета в 61 000 SNP были отобраны 36 704  полиморфных SNP, в которых найдены 24 полиморфизма, входящих в 11 генов (P &lt; 0.1), статистически значимо  коррелирующих с признаками аномалий развития в геноме свиней, такими как атрезия анального отверстия  (ARMC7,FANCC,RND3,ENSSSCG00000017216), проблемы с конечностями (PAWR,NTM,OPCML,ENSSSCG00000040250, ENSSSCG00000017018) и тремор поросят (RIC3,ENSSSCG00000032665). Также была выявлена коэкспрессия генов NTM, OPCML и RND3, участвующих в регуляции клеточной адгезии. Проведенная работа подтвердила актуальность применения подобного подхода в полногеномно-ассоциативных исследованиях для детектирования единичных SNP, связанных с отдельными признаками, даже для небольших выборок.</p></abstract><trans-abstract xml:lang="en"><p>Identifying genome regions that are directly or indirectly associated with developmental defects and malformations in domesticated pigs can help identify genomic traits used as biomarkers of the structural and functional composition of the body, their metabolic status and genetic diseases as well. Such studies are directly related to the improvement of the economic efficiency, as they allow identification and exclusion of defect animals, who may carry target genes not appearing phenotypically, from the breeding process. In the current work, we have searched for these kind of target genes and genome regions with conducting the genome-wide association studies using PorcineSNP60K BeadChips (Illumina, San Diego, USA). A total of 48 boars of a large white breed of the nucleus farm “Znamenskoe” were analyzed for 21 traits of indicated shortcomings of the exterior and defects of development in 39,153 their offspring.  Calculations were made using a mixed type linear model in package GEMMA. In this study, we selected only 36,704 polymorphic SNPs from an initial 61,000-strong SNP set. After GWAS, we obtained 24 alleles in 11 corresponding genes  (P &lt; 0.1) in the genome of pigs, which are significantly correlated with traits of developmental abnormalities such as anal atresia (ARMC7,FANCC,RND3,ENSSSCG00000017216), limb problems (PAWR,NTM,OPCML,ENSSSCG00000040250, ENSSSCG00000017018) and tremor of piglets (RIC3,ENSSSCG00000032665). Also, co-expression of the NTM,OPCMLand  RND3genes was revealed. This study confirms the relevance of using the single SNP detection according to the single trait approach in associative studies, even for small sample numbers.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>маркер-зависимая селекция</kwd><kwd>количественные признаки</kwd><kwd>SNP-чипы</kwd><kwd>полногеномные ассоциативные исследования</kwd><kwd>пороки развития свиней</kwd></kwd-group><kwd-group xml:lang="en"><kwd>marker assign selection</kwd><kwd>quantitative trait loci</kwd><kwd>SNP-chips</kwd><kwd>genome-wide association studies</kwd><kwd>mal formations</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>This work was supported by the Russian Science Foundation, project 18-76-00034</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Долматова A.B., Сковородин Е.Н. Использование ДНК-полиморфизма в селекции свиней. 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