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<article 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" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="research-article" dtd-version="1.2" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">Siberian Journal of Life Sciences and Agriculture</journal-id><journal-title-group><journal-title xml:lang="en">Siberian Journal of Life Sciences and Agriculture</journal-title><trans-title-group xml:lang="ru"><trans-title>Siberian Journal of Life Sciences and Agriculture</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2658-6649</issn><issn publication-format="electronic">2658-6657</issn><publisher><publisher-name xml:lang="en">Science and Innovation Center Publishing House</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">480496</article-id><article-id pub-id-type="doi">10.12731/2658-6649-2026-18-3-1468</article-id><article-id pub-id-type="edn">HGDPHT</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Biochemistry, Genetics and Molecular Biology</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Биохимия, генетика и молекулярная биология</subject></subj-group><subj-group subj-group-type="article-type"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Genetically determined diseases of the Simmental cattle breed: Modern challenges and prospects of breeding (review)</article-title><trans-title-group xml:lang="ru"><trans-title>Генетически детерминированные заболевания симментальской породы крупного рогатого скота: современные вызовы и перспективы селекции (обзор)</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2793-5001</contrib-id><contrib-id contrib-id-type="spin">7012-0999</contrib-id><name-alternatives><name xml:lang="ru"><surname>Безбородова</surname><given-names>Наталья Александровна</given-names></name><name xml:lang="en"><surname>Bezborodova</surname><given-names>Natalia A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>кандидат ветеринарных наук, старший научный сотрудник отдела геномных исследований и селекции животных</p> <p> </p></bio><bio xml:lang="en"><p>Candidate of Veterinary Sciences, Senior Researcher Department of Genomic Research and Animal Breeding</p> <p> </p></bio><email>n-bezborodova@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1169-4090</contrib-id><contrib-id contrib-id-type="spin">7437-2300</contrib-id><name-alternatives><name xml:lang="ru"><surname>Соколова</surname><given-names>Ольга Васильевна</given-names></name><name xml:lang="en"><surname>Sokolova</surname><given-names>Olga V.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>доктор ветеринарных наук, ведущий научный сотрудник отдела геномных исследований и селекции животных</p> <p> </p></bio><bio xml:lang="en"><p>Doctor of Veterinary Sciences, Leading Researcher Department of Genomic Research and Animal Breeding</p> <p> </p></bio><email>nauka_sokolova@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0009-9408-8106</contrib-id><contrib-id contrib-id-type="spin">6187-6175</contrib-id><name-alternatives><name xml:lang="ru"><surname>Зверев</surname><given-names>Анатолий Валерьевич</given-names></name><name xml:lang="en"><surname>Zverev</surname><given-names>Anatoly V.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>лаборант-исследователь отдела геномных исследований и селекции животных</p> <p> </p></bio><bio xml:lang="en"><p>Laboratory researcher Department of Genomic Research and Animal Breeding</p> <p> </p></bio><email>anatoliyzverevv@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Мартынов</surname><given-names>Николай Александрович</given-names></name><name xml:lang="en"><surname>Martynov</surname><given-names>Nikolai A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>лаборант отдела геномных исследований и селекции животных</p>
<p> </p></bio><bio xml:lang="en"><p>Laboratory Assistant Department of Genomic Research and Animal Breeding</p>
<p> </p></bio><email>martynov_kolya98@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0006-4980-0481</contrib-id><contrib-id contrib-id-type="spin">4108-5689</contrib-id><name-alternatives><name xml:lang="ru"><surname>Романов</surname><given-names>Егор Владимирович</given-names></name><name xml:lang="en"><surname>Romanov</surname><given-names>Egor V.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>младший научный сотрудник отдела ветеринарно-лабораторной диагностики с испытательной лабораторией</p> <p> </p></bio><bio xml:lang="en"><p>Junior Research Assistant, Veterinary Laboratory Diagnostics Department with Testing Laboratory</p> <p> </p></bio><email>romanov.egor.2303@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2970-6528</contrib-id><contrib-id contrib-id-type="spin">3428-7317</contrib-id><name-alternatives><name xml:lang="ru"><surname>Юсупова</surname><given-names>Чулпан Рифовна</given-names></name><name xml:lang="en"><surname>Yusupova</surname><given-names>Chulpan R.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>доктор биологических наук, ведущий научный сотрудник отдела геномных исследований и селекции животных</p> <p> </p></bio><bio xml:lang="en"><p>Doctor of Biological Sciences, Leading Researcher Department of Genomic Research and Animal Breeding</p> <p> </p></bio><email>chulpan-galina@mail.ruр</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="spin">6267-0484</contrib-id><name-alternatives><name xml:lang="ru"><surname>Зайцева</surname><given-names>Ольга Сергеевна</given-names></name><name xml:lang="en"><surname>Zaitseva</surname><given-names>Olga S.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>кандидат ветеринарных наук, старший научный сотрудник отдела геномных исследований и селекции животных</p>
<p> </p></bio><bio xml:lang="en"><p>Candidate of Veterinary Sciences, Senior Researcher, Department of Genomic Research and Animal Breeding</p>
<p> </p></bio><email>bodrova-zaizeva@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Шаповалова</surname><given-names>Анастасия Максимовна</given-names></name><name xml:lang="en"><surname>Shapovalova</surname><given-names>Anastasia M.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>студентка бакалавриата мегафакультета наук о жизни</p> <p> </p></bio><bio xml:lang="en"><p>undergraduate student in the Biotechnology program at the Faculty of Life Sciences</p> <p> </p></bio><email>adelinakorob@mail.ru</email><xref ref-type="aff" rid="aff2"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="ru">ФГБНУ «Уральский федеральный аграрный научно-исследовательский центр Уральского отделения Российской академии наук»</institution></aff><aff><institution xml:lang="en">Ural Federal Agrarian Research Center of the Ural Branch of the Russian Aca­demy of Sciences</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="ru">Университет ИТМО</institution></aff><aff><institution xml:lang="en">ITMO University</institution></aff></aff-alternatives><content-language>ru</content-language><pub-date date-type="preprint" publication-format="electronic" iso-8601-date="2026-06-30"><day>30</day><month>06</month><year>2026</year></pub-date><pub-date date-type="pub" publication-format="electronic" iso-8601-date="2026-06-30"><day>30</day><month>06</month><year>2026</year></pub-date><pub-date date-type="collection"><year>2026</year></pub-date><volume>18</volume><issue>3</issue><issue-title xml:lang="ru"/><fpage>142</fpage><lpage>175</lpage><history><date date-type="received" iso-8601-date="2025-10-17"><day>17</day><month>10</month><year>2025</year></date><date date-type="accepted" iso-8601-date="2026-04-01"><day>01</day><month>04</month><year>2026</year></date></history><pub-history><event event-type="received"><event-desc>Received:<date date-type="received" iso-8601-date="2025-10-17"><day>17</day><month>10</month><year>2025</year></date></event-desc></event><event event-type="accepted"><event-desc>Accepted:<date date-type="accepted" iso-8601-date="2026-04-01"><day>01</day><month>04</month><year>2026</year></date></event-desc></event><event event-type="pub"><event-desc>Published:<pub-date date-type="pub" publication-format="electronic" iso-8601-date="2026-06-30"><day>30</day><month>06</month><year>2026</year></pub-date></event-desc></event></pub-history><permissions><copyright-statement xml:lang="ru">Copyright ©; 2026, Н.А. Безбородова, О.В. Соколова, А.В. Зверев, Н.А. Мартынов, Е.В. Романов, Ч.Р. Юсупова, О.С. Зайцева, А.М. Шаповалова</copyright-statement><copyright-statement xml:lang="en">Copyright ©; 2026, N.A. Bezborodova, O.V. Sokolova, A.V. Zverev, N.A. Martynov, E.V. Romanov, Ch.R. Yusupova, O.S. Zaitseva, A.M. Shapovalova</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Н.А. Безбородова, О.В. Соколова, А.В. Зверев, Н.А. Мартынов, Е.В. Романов, Ч.Р. Юсупова, О.С. Зайцева, А.М. Шаповалова</copyright-holder><copyright-holder xml:lang="en">N.A. Bezborodova, O.V. Sokolova, A.V. Zverev, N.A. Martynov, E.V. Romanov, Ch.R. Yusupova, O.S. Zaitseva, A.M. Shapovalova</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by-nc-nd/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://journals.rcsi.science/2658-6649/article/view/480496">https://journals.rcsi.science/2658-6649/article/view/480496</self-uri><self-uri content-type="application/pdf" xlink:href="480496/480496-1257519-1-SM.pdf" xlink:title="PDF" xml:lang="ru">480496/480496-1257519-1-SM.pdf</self-uri><abstract xml:lang="en"><p>Background. The intensification of livestock production and the use of a limited number of highly valuable sires lead to the accumulation of lethal mutations and hereditary abnormalities in cattle populations. This reduces the economic efficiency of the industry due to calf mortality, decreased fertility, and reduced productive longevity of animals. The problem is particularly relevant for the Simmental breed, which is widely used in various production directions.</p> <p>Purpose. To conduct a comprehensive analysis of the current state of knowledge, diagnostic methods, prevalence, and control systems for major hereditary diseases in Simmental cattle and related populations to assess the genetic load and the effectiveness of selection and prevention programs.</p> <p>Materials and methods. The study is based on an analysis of scientific publications from 2015–2025, breeding records, and DNA diagnostics results (PCR, whole-genome sequencing, SNP genotyping) of sires and breeding stock. Data from Russia, European countries (Germany, Switzerland), and Asia (China, Turkey) were reviewed. The frequency of mutations was assessed for the following abnormalities: arachnomelia (A), bull subfertility (BNS), zinc-dependent dermatosis (ZLD), thrombopathy (TP), dwarfism (GON4L), and lethal haplotypes (BH2, FH2, FH4).</p> <p>Results. It was found that among Simmental cattle imported into Russia, the proportion of carriers of genetic abnormalities reached 34.8%, which is more than twice the average European rate (15.5%). The highest concentration of mutations was identified in the lines of sires Redad (45.3%) and Metz (41.3%). Among Russian cows – descendants of such sires – 19.3% of animals were carriers. In China and Turkey, the spread of arachnomelia (MOCS1 gene mutation) was recorded, associated with the use of the bull Romel. In contrast, in Switzerland, where strict genomic monitoring is implemented, the frequency of thrombopathy is only 0.24%, and Fanconi-Bickel syndrome – 0.03%. For each abnormality considered, the inheritance type and clinical-pathogenetic features are detailed.</p></abstract><trans-abstract xml:lang="ru"><p>Обоснование. Интенсификация животноводства и испо<ext-link/>льзование ограниченного количества высокоценных быков-производителей приводят к накоплению летальных мутаций и наследственных аномалий в популяциях крупного рогатого скота. Это снижает экономическую эффективность отрасли из-за падежа молодняка, снижения фертильности и продуктивного долголетия животных. Особую актуальность проблема представляет для симментальской породы, широко используемой в различных направлениях продуктивности.</p> <p>Цель исследования — проведение комплексного анализа современного состояния изученности, методов диагностики, распространенности и системы контроля основных наследственных заболеваний у симментальской породы крупного рогатого скота и родственных популяций для оценки генетического груза и эффективности селекционно-профилактических программ.</p> <p>Материалы и методы. Исследование основано на анализе научных публикаций за период 2015–2025 гг., данных племенного учета и результатах ДНК-диагностики (ПЦР, полногеномное секвенирование, SNP-генотипирование) быков-производителей и маточного поголовья. Рассмотрены данные из России, стран Европы (Германия, Швейцария), Азии (Китай, Турция). Оценена частота мутаций по аномалиям: арахномелия (A), субфертильность быков (BNS), цинк-зависимый дерматоз (ZLD), тромбопатия (TP), карликовость (GON4L), летальные гаплотипы (BH2, FH2, FH4).</p> <p>Результаты. Установлено, что среди импортированного в Россию поголовья симменталов доля носителей генетических аномалий достигала 34,8%, что более чем вдвое превышает среднеевропейский показатель (15,5%). Максимальная концентрация мутаций выявлена в линиях быков Редада (45,3%) и Метца (41,3%). Среди российских коров-потомков носителями являлись 19,3% особей. В Китае и Турции зафиксировано распространение арахномелии (мутация гена MOCS1), связанное с использованием быка Ромель. Напротив, в Швейцарии, где внедрен жесткий геномный мониторинг, частота тромбопатии составляет лишь 0,24%, а синдрома Фанкони-Бикель – 0,03%. Для каждой рассмотренной аномалии детализированы тип наследования и клинико-патогенетические особенности.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>крупный рогатый скот</kwd><kwd>симментальская порода</kwd><kwd>генетические заболевания</kwd><kwd>аутосомно-рецессивные мутации</kwd><kwd>сельскохозяйственные животные</kwd><kwd>летальные гаплотипы</kwd><kwd>молекулярная диагностика</kwd><kwd>геномная селекция</kwd><kwd>эмбриональная смертность</kwd></kwd-group><kwd-group xml:lang="en"><kwd>cattle</kwd><kwd>Simmental breed</kwd><kwd>genetic diseases</kwd><kwd>autosomal recessive mutations</kwd><kwd>farm animals</kwd><kwd>lethal haplotypes</kwd><kwd>molecular diagnostics</kwd><kwd>genomic selection</kwd><kwd>embryonic mortality</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">Bytov, M. V., Zubareva, V. D., Zaitseva, O. S., Sokolova, O. V., Yusupova, Ch. R., &amp; Martynov, N. A. (2025). Development of diagnostic test systems and screening of fertility haplotypes in Holstein cattle. Dostizheniya Nauki i Tekhniki APK, 39(4), 58–65. https://doi.org/10.53859/02352451_2025_39_4_58. EDN: https://elibrary.ru/SHBCVV</mixed-citation><mixed-citation xml:lang="ru">Бытов, М. В., Зубарева, В. Д., Зайцева, О. С., Соколова, О. В., Юсупова, Ч. Р., &amp; Мартынов, Н. А. (2025). Разработка диагностических тест-систем и скрининг гаплотипов фертильности крупного рогатого скота голштинской породы. Достижения науки и техники АПК, 39(4), 58–65. https://doi.org/10.53859/02352451_2025_39_4_58. EDN: https://elibrary.ru/SHBCVV</mixed-citation></citation-alternatives></ref><ref id="B2"><label>2.</label><citation-alternatives><mixed-citation xml:lang="en">Bytov, M. V., Sokolova, O. V., Bezborodova, N. A., Krasnoperov, A. S., &amp; Isaeva, A. G. (2023). Methods for genotyping cattle for post-GWAS annotation of SNPs. Agrarnyy Vestnik Urala, 23(6), 67–75. https://doi.org/10.32417/1997-4868-2023-235-06-67-75. EDN: https://elibrary.ru/KGDRES</mixed-citation><mixed-citation xml:lang="ru">Бытов, М. В., Соколова, О. В., Безбородова, Н. А., Красноперов, А. С., &amp; Исаева, А. Г. (2023). Методы генотипирования крупного рогатого скота для post-GWAS аннотирования SNPs. Аграрный вестник Урала, 23(6), 67–75. https://doi.org/10.32417/1997-4868-2023-235-06-67-75. EDN: https://elibrary.ru/KGDRES</mixed-citation></citation-alternatives></ref><ref id="B3"><label>3.</label><citation-alternatives><mixed-citation xml:lang="en">Zaitseva, O. S., Sokolova, O. V., Martynov, N. A., Bezborodova, N. A., &amp; Bytov, M. V. (2022). Diagnosis of genetically determined diseases in Holstein cattle. Trudy Kubanskogo Gosudarstvennogo Agrarnogo Universiteta, (97), 167–177. https://doi.org/10.21515/1999-1703-97-167-177. EDN: https://elibrary.ru/UVNTSG</mixed-citation><mixed-citation xml:lang="ru">Зайцева, О. С., Соколова, О. В., Мартынов, Н. А., Безбородова, Н. А., &amp; Бытов, М. В. (2022). Диагностика генетически детерминированных заболеваний голштинской породы крупного рогатого скота. Труды Кубанского государственного аграрного университета, (97), 167–177. https://doi.org/10.21515/1999-1703-97-167-177. EDN: https://elibrary.ru/UVNTSG</mixed-citation></citation-alternatives></ref><ref id="B4"><label>4.</label><citation-alternatives><mixed-citation xml:lang="en">Ignatieva, L. P., &amp; Semyagin, A. A. (2019). Genetic monitoring of anomalies in the modern Simmental cattle population in Russia. Genetika i Razvedenie Zhivotnykh, (4), 33–42. https://doi.org/10.31043/2410-2733-2019-4-33-42. EDN: https://elibrary.ru/NBSSCW</mixed-citation><mixed-citation xml:lang="ru">Игнатьева, Л. П., &amp; Семягин, А. А. (2019). Генетический мониторинг аномалий в современной популяции симментальской породы крупного рогатого скота в России. Генетика и разведение животных, (4), 33–42. https://doi.org/10.31043/2410-2733-2019-4-33-42. EDN: https://elibrary.ru/NBSSCW</mixed-citation></citation-alternatives></ref><ref id="B5"><label>5.</label><citation-alternatives><mixed-citation xml:lang="en">Martynov, N. A., Modorov, M. V., Sokolova, O. V., Bytov, M. V., Zaitseva, O. S., Bezborodova, N. A., Zubareva, V. D., Kozhukhovskaya, V. V., &amp; Shkuratova, I. A. (2022). Molecular genetic assessment of the prevalence of blood coagulation factor deficiency in the Ural population of Holsteinized black-and-white cattle. Problemy Biologii Produktivnykh Zhivotnykh, (1), 54–61. https://doi.org/10.25687/1996-6733.prodanimbiol.2022.1.54-61. EDN: https://elibrary.ru/WKZBTU</mixed-citation><mixed-citation xml:lang="ru">Мартынов, Н. А., Модоров, М. В., Соколова, О. В., Бытов, М. В., Зайцева, О. С., Безбородова, Н. А., Зубарева, В. Д., Кожуховская, В. В., &amp; Шкуратова, И. А. (2022). Молекулярно-генетическая оценка распространённости дефицита фактора свёртываемости крови в уральской популяции голштинизированного чёрно-пёстрого скота. Проблемы биологии продуктивных животных, (1), 54–61. https://doi.org/10.25687/1996-6733.prodanimbiol.2022.1.54-61. EDN: https://elibrary.ru/WKZBTU</mixed-citation></citation-alternatives></ref><ref id="B6"><label>6.</label><citation-alternatives><mixed-citation xml:lang="en">Nikulin, I., &amp; Kalyuzhny, I. (2021). Clinical symptoms of iodine and zinc deficiency in dairy cows. BIO Web of Conferences, 32, 04005. https://doi.org/10.1051/bioconf/20213204005. EDN: https://elibrary.ru/KLXANJ</mixed-citation><mixed-citation xml:lang="ru">Никулин, И., &amp; Калюжный, И. (2021). Клинические симптомы йодной и цинковой недостаточности у молочных коров. BIO Web of Conferences, 32, 04005. https://doi.org/10.1051/bioconf/20213204005. EDN: https://elibrary.ru/KLXANJ</mixed-citation></citation-alternatives></ref><ref id="B7"><label>7.</label><citation-alternatives><mixed-citation xml:lang="en">Samsonova, O. E., &amp; Babushkin, V. A. (2021). Genetic and phenotypic correlations for some traits of purebred Simmental dairy cows. Biologiya v Selskom Khozyaystve, (4), 2–6.</mixed-citation><mixed-citation xml:lang="ru">Самсонова, О. Е., &amp; Бабушкин, В. А. (2021). Генетические и фенотипические корреляции для некоторых характеристик чистопородных молочных коров симментальской породы. Биология в сельском хозяйстве, (4), 2–6.</mixed-citation></citation-alternatives></ref><ref id="B8"><label>8.</label><citation-alternatives><mixed-citation xml:lang="en">Filipchenko, A. A., Fornara, M. S., Kostyunina, O. V., &amp; Sermyagin, A. A. (2018). Development of a test system for diagnosing the hereditary BMS anomaly associated with infertility in Simmental breeding bulls. Genetika i Razvedenie Zhivotnykh, (4), 23–28. https://doi.org/10.31043/2410-2733-2018-4-23-28. EDN: https://elibrary.ru/YQORTN</mixed-citation><mixed-citation xml:lang="ru">Филипченко, А. А., Форнара, М. С., Костюнина, О. В., &amp; Сермягин, А. А. (2018). Разработка тест-системы для диагностики наследственной аномалии BMS, ассоциированной с бесплодием быков-производителей симментальской породы. Генетика и разведение животных, (4), 23–28. https://doi.org/10.31043/2410-2733-2018-4-23-28. EDN: https://elibrary.ru/YQORTN</mixed-citation></citation-alternatives></ref><ref id="B9"><label>9.</label><mixed-citation>Aebi, M., Wiedemar, N., Drögemüller, C., &amp; Zanolari, R. (2016). Hereditäre Thrombozytopathie beim Simmental Rind. Schweizer Archiv für Tierheilkunde, 158(2), 102–108. https://doi.org/10.17236/sat00050</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Ask-Gullstrand, P., Strandberg, E., Båge, R., Rius-Vilarrasa, E., &amp; Berglund, B. (2024). The effect of genetic defects on pregnancy loss in Swedish dairy cattle. Journal of Dairy Science, 107(5), 2999–3005. https://doi.org/10.3168/jds.2023-24159. EDN: https://elibrary.ru/XSCRRQ</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Boudreaux, M. K. (2008). Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. Journal of the American Veterinary Medical Association, 233(8), 1251–1259. https://doi.org/10.2460/javma.233.8.1251</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>Boudreaux, M. K., Schmutz, S. M., &amp; French, P. S. (2007). Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf. Veterinary Pathology, 44(6), 932–935. https://doi.org/10.1354/vp.44-6-932</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Burgstaller, J., Url, A., Pausch, H., Schwarzenbacher, H., Egerbacher, M., &amp; Wittek, T. (2016). Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). Berliner und Münchener Tierärztliche Wochenschrift, 129, 132–137.</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Buitkamp, J., Luntz, B., Emmerling, R., Reichenbach, H. D., Weppert, M., Schade, B., Meier, N., &amp; Götz, K. U. (2008). Syndrome of arachnomelia in Simmental cattle. BMC Veterinary Research, 4, 39. https://doi.org/10.1186/1746-6148-4-39. EDN: https://elibrary.ru/MVWYND</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>Buitkamp, J., Semmer, J., &amp; Götz, K. U. (2011). Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1). BMC Genetics, 12, 11. https://doi.org/10.1186/1471-2156-12-11</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Chu, Q., Jiao, S. H., Wang, Y. C., Liu, L., Liu, A. R., Wu, H. J., Xie, Z. Q., Hou, S. Y., Geng, F. J., Wang, C. Y., Huang, X. X., Tan, S. X., Tan, R., Zhang, Y., Yu, Y., &amp; Zhang, Y. (2013). [Establishment of the detection method for two causative genes of cattle arachnomelia syndrome]. Yi Chuan, 35(5), 623–627. https://doi.org/10.3724/sp.j.1005.2013.00623</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Ciepłoch, A., Rutkowska, K., Oprządek, J., &amp; Poławska, E. (2017). Genetic disorders in beef cattle: a review. Genes &amp; Genomics, 39, 461–471. https://doi.org/10.1007/s13258-017-0525-8. EDN: https://elibrary.ru/CLAROS</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Cole, J. B. (2015). A simple strategy for managing many recessive disorders in a dairy cattle breeding program. Genetics Selection Evolution, 47, 94. https://doi.org/10.1186/s12711-015-0174-9. EDN: https://elibrary.ru/GEEUNI</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Cole, J. B., Baes, C. F., Eaglen, S. A. E., Lawlor, T. J., Maltecca, C., Ortega, M. S., &amp; VanRaden, P. M. (2025). Invited review: Management of genetic defects in dairy cattle populations. Journal of Dairy Science, 108(4), 3045–3067. https://doi.org/10.3168/jds.2024-26035. EDN: https://elibrary.ru/GPEKTY</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>Cole, J. B., Null, D. J., &amp; VanRaden, P. M. (2016). Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. Journal of Dairy Science, 99(9), 7274–7288. https://doi.org/10.3168/jds.2015-10777</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Drögemüller, C., Rossi, M., Gentile, A., Testoni, S., Jörg, H., Stranzinger, G., Drögemüller, M., &amp; Glowatzki-Mullis, M. L. (2009). Arachnomelia in Brown Swiss cattle maps to chromosome 5. Mammalian Genome, 20, 53–59. https://doi.org/10.1007/s00335-008-9157-2. EDN: https://elibrary.ru/UXCVJS</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Drögemüller, C., Tetens, J., Sigurdsson, S., Gentile, A., Testoni, S., Lindblad-Toh, K., &amp; Leeb, T. (2010). Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genetics, 6(8), e1001079. https://doi.org/10.1371/journal.pgen.1001079. EDN: https://elibrary.ru/NYTFQH</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Elango, K., Kumaresan, A., Sharma, A., Nag, P., Pushpam, P. L., Arumugam, M., &amp; Datta, T. K. (2020). Sub-fertility in crossbred bulls: deciphering testicular level transcriptomic alterations between zebu (Bos indicus) and crossbred (Bos taurus x Bos indicus) bulls. BMC Genomics, 21, 502. https://doi.org/10.1186/s12864-020-06907-1. EDN: https://elibrary.ru/YFDGMG</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Johnston, I. A., Kent, M. P., Boudinot, P., Looseley, M., Bargelloni, L., Faggion, S., &amp; Lien, S. (2024). Advancing fish breeding in aquaculture through genome functional annotation. Aquaculture, 583, 740589. https://doi.org/10.1016/j.aquaculture.2024.740589. EDN: https://elibrary.ru/XFSJIW</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>Glatthard, S., Seefried, F. R., Gentile, A., Jacinto, J. P. G., &amp; Drögemüller, C. (2025). Erbfehler beim Schweizer Braunvieh — eine Übersicht [Genetic defects in Braunvieh cattle of Switzerland — an overview]. Schweizer Archiv für Tierheilkunde, 167(2), 98–108. https://doi.org/10.17236/sat00344. EDN: https://elibrary.ru/FPJLPC</mixed-citation></ref><ref id="B26"><label>26.</label><mixed-citation>Häfliger, I. M., Seefried, F. R., &amp; Drögemüller, C. (2021). Reverse genetic screen for deleterious recessive variants in the Local Simmental cattle population of Switzerland. Animals, 11(12), 3535. https://doi.org/10.3390/ani11123535. EDN: https://elibrary.ru/SFNGKS</mixed-citation></ref><ref id="B27"><label>27.</label><mixed-citation>Häfliger, I. M., Seefried, F. R., Spengeler, M., &amp; Drögemüller, C. (2021). Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success. Genetics Selection Evolution, 53, 95. https://doi.org/10.1186/s12711-021-00686-3. EDN: https://elibrary.ru/RCWGNG</mixed-citation></ref><ref id="B28"><label>28.</label><mixed-citation>Hu, L., Tian, Y., Chu, Q., Sammad, A., Jiao, S., Huang, X., Xie, Z., Hou, S., Liu, A., Wu, H., Liu, L., Wang, W., Yu, Y., &amp; Wang, Y. (2022). Development and application of arachnomelia syndrome genetic detection in four Chinese dual-purpose cattle populations. Research in Veterinary Science, 152, 323–332. https://doi.org/10.1016/j.rvsc.2022.08.009. EDN: https://elibrary.ru/KGDAGF</mixed-citation></ref><ref id="B29"><label>29.</label><mixed-citation>International Committee for Animal Recording (ICAR). (2023). Guidelines for genetic testing of zinc deficiency disorders in cattle (Version 2.1). ICAR Technical Series No. 18. Retrieved from https://www.icar.org/wp-content/uploads/2023/05/ICAR_Zinc_Deficiency_Guidelines.pdf</mixed-citation></ref><ref id="B30"><label>30.</label><mixed-citation>Jiao, S., Chu, Q., Wang, Y., Xie, Z., Hou, S., Liu, A., Wu, H., Liu, L., Geng, F., Wang, C., Qin, C., Tan, R., Huang, X., Tan, S., Wu, M., Xu, X., Liu, X., Yu, Y., &amp; Zhang, Y. (2013). Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach. PLoS ONE, 8(5), e64468. https://doi.org/10.1371/journal.pone.0064468</mixed-citation></ref><ref id="B31"><label>31.</label><mixed-citation>Joller, S., Stettler, M., Locher, I., Dettwiler, M., Seefried, F., Meylan, M., &amp; Drögemüller, C. (2018). [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. Schweizer Archiv für Tierheilkunde, 160(3), 179–184.</mixed-citation></ref><ref id="B32"><label>32.</label><mixed-citation>Jung, S., Pausch, H., Langenmayer, M. C., Schwarzenbacher, H., Majzoub-Altweck, M., Gollnick, N. S., &amp; Fries, R. (2014). A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle. BMC Genomics, 15, 623. https://doi.org/10.1186/1471-2164-15-623</mixed-citation></ref><ref id="B33"><label>33.</label><mixed-citation>Langenmayer, M. C., Jung, S., Majzoub-Altweck, M., Trefz, F. M., Seifert, C., Knubben-Schweizer, G., Fries, R., Hermanns, W., &amp; Gollnick, N. S. (2018). Zinc deficiency-like syndrome in Fleckvieh calves: Clinical and pathological findings and differentiation from bovine hereditary zinc deficiency. Journal of Veterinary Internal Medicine, 32(2), 853–859. https://doi.org/10.1111/jvim.15040</mixed-citation></ref><ref id="B34"><label>34.</label><mixed-citation>Langenmayer, M. C., Jung, S., Fux, R., Wittlinger, C., Tschoner, T., Majzoub-Altweck, M., Knubben-Schweizer, G., Fries, R., Hermanns, W., &amp; Trefz, F. M. (2022). Macrophages in dermal disease progression of phospholipase D4-deficient Fleckvieh calves. Veterinary Pathology, 59(2), 319–327. https://doi.org/10.1177/03009858211062629. EDN: https://elibrary.ru/DUCEEK</mixed-citation></ref><ref id="B35"><label>35.</label><mixed-citation>Nicholas, F. W., Tammen, I., &amp; Sydney Informatics Hub. (2025). Online Mendelian Inheritance in Animals (OMIA). https://omia.org</mixed-citation></ref><ref id="B36"><label>36.</label><mixed-citation>Pausch, H., Kölle, S., Wurmser, C., Schwarzenbacher, H., Emmerling, R., Jansen, S., Trottmann, M., Fuerst, C., Götz, K. U., &amp; Fries, R. (2014). A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle. PLoS Genetics, 10(1), e1004044. https://doi.org/10.1371/journal.pgen.1004044. EDN: https://elibrary.ru/SPTUOD</mixed-citation></ref><ref id="B37"><label>37.</label><mixed-citation>Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., &amp; Fries, R. (2015). Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics, 16, 312. https://doi.org/10.1186/s12864-015-1483-7. EDN: https://elibrary.ru/UTYWKT</mixed-citation></ref><ref id="B38"><label>38.</label><mixed-citation>Rodriguez-Villamil, P., Beaton, B. P., &amp; Krisher, R. L. (2024). Gene editing in livestock: Innovations and applications. Animal Reproduction, 21(3), e20240054. https://doi.org/10.1590/1984-3143-AR2024-0054. EDN: https://elibrary.ru/VAWKZF</mixed-citation></ref><ref id="B39"><label>39.</label><mixed-citation>Schwarzenbacher, H., Burgstaller, J., Seefried, F. R., Wurmser, C., Hilbe, M., Jung, S., Fuerst, C., Dinhopl, N., Weissenböck, H., Fuerst-Waltl, B., Dolezal, M., Winkler, R., Grueter, O., Bleul, U., Wittek, T., Fries, R., &amp; Pausch, H. (2016). A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle. BMC Genomics, 17, 400. https://doi.org/10.1186/s12864-016-2742-y. EDN: https://elibrary.ru/WTZELD</mixed-citation></ref><ref id="B40"><label>40.</label><mixed-citation>Schwarzenbacher, H., Wurmser, C., Flisikowski, K., Misurova, L., Jung, S., Langenmayer, M. C., Schnieke, A., Knubben-Schweizer, G., Fries, R., &amp; Pausch, H. (2016). A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. Genetics Selection Evolution, 48, 25. https://doi.org/10.1186/s12711-016-0207-z. EDN: https://elibrary.ru/RSVGOK</mixed-citation></ref><ref id="B41"><label>41.</label><mixed-citation>Shormanova, M., Makhmutov, A., Shormanova, A., Muslimova, Z., &amp; Ussenbekov, Y. (2024). Development of alternative diagnosis of HH1, HH3, HH5 and HCD fertility haplotypes and subfertility syndrome in cattle. Reproduction in Domestic Animals, 59(3), e14533. https://doi.org/10.1111/rda.14533. EDN: https://elibrary.ru/PQGPIN</mixed-citation></ref><ref id="B42"><label>42.</label><mixed-citation>Temizkan, M. C., Sonmez, G., &amp; Sayar, E. (2025). Detection of arachnomelia syndrome in Simmental cattle in Türkiye. Veterinary Medicine and Science, 11(4), e70442. https://doi.org/10.1002/vms3.70442. EDN: https://elibrary.ru/JYZJWE</mixed-citation></ref><ref id="B43"><label>43.</label><mixed-citation>Weber, B. A., Leuenberger, T., Hauser, M., Bousmar, J. C. F., Gurtner, C., Seefried, F. R., Drögemüller, C., &amp; Jacinto, J. G. P. (2025). Übersicht über bekannte und neue Erbfehler sowie deren Verbreitung bei Swiss Fleckvieh Rindern [Overview of known and new genetic defects and their prevalence in Swiss Fleckvieh cattle]. Schweizer Archiv für Tierheilkunde, 167(5), 280–291. https://doi.org/10.17236/sat00452. EDN: https://elibrary.ru/ORITKH</mixed-citation></ref><ref id="B44"><label>44.</label><mixed-citation>Weppert, M., Reichenbach, H.-D., Emmerling, R., Luntz, B., Buitkamp, J., Schade, B., Meier, N., &amp; Götz, K.-U. (2008). Syndrome of arachnomelia in Simmental cattle. BMC Veterinary Research, 4, 39. https://doi.org/10.1186/1746-6148-4-39. EDN: https://elibrary.ru/MVWYND</mixed-citation></ref><ref id="B45"><label>45.</label><mixed-citation>Wu, X., Mesbah-Uddin, M., Guldbrandtsen, B., Lund, M. S., &amp; Sahana, G. (2020). Novel haplotypes responsible for prenatal death in Nordic Red and Danish Jersey cattle. Journal of Dairy Science, 103(5), 4570–4578. https://doi.org/10.3168/jds.2019-17831. EDN: https://elibrary.ru/MNVCTR</mixed-citation></ref><ref id="B46"><label>46.</label><mixed-citation>Zerbin, I., Metzger, J., Dierks, C., &amp; Distl, O. (2015). Segregation of the hereditary thrombopathia-associated polymorphism in polled German Fleckvieh cattle. Animal Genetics, 46(5), 584–585. https://doi.org/10.1111/age.12322</mixed-citation></ref><ref id="B47"><label>47.</label><mixed-citation>Zhang, S., Peng, K., Zhang, G., Cao, Y., Zhang, M., Chen, H., Lei, C., Lan, X., &amp; Zhao, Y. (2019). Detection of bovine TMEM95 p.Cys161X mutation in 13 Chinese indigenous cattle breeds. Animals, 9(7), 444. https://doi.org/10.3390/ani9070444</mixed-citation></ref></ref-list></back></article>
