agronaukaАграрная наука Евро-Северо-ВостокаAgricultural Science Euro-North-East2072-90812500-1396FARC North-East10.30766/2072-9081.2020.21.4.355-368agronauka-574Research ArticleОБЗОРЫREVIEWSВариация числа копий (CNV) как перспективный генетический маркер: распространение, методы валидации и гены-кандидаты в геномах сельскохозяйственных животных (обзор)Copy number variation (CNV) as a promising genetic marker: distribution, validation methods and candidate genes in genomes of livestock species (review)https://orcid.org/0000-0003-4830-6626КошкинаО. А.KoshkinaO. A.

Кошкина Ольга Андреевна, аспирант, младший научный сотрудник группы генетики и геномики мелкого рогатого скота

п. Дубровицы, д. 60, Городской округ Подольск, Московская область, 142132

Olga A. Koshkina, graduate student, junior researcher of the Group for Genetics and Genomics of Small Ruminants

Dubrovitsy village, 60, Podolsk City District, Moscow Region, 142132

olechka1808@list.ruhttps://orcid.org/0000-0002-5809-1262ДенисковаТ. Е.DeniskovaT. E.

Денискова Татьяна Евгеньевна, кандидат биол. наук, старший научный сотрудник группы генетики и геномики мелкого рогатого скота

п. Дубровицы, д. 60, Городской округ Подольск, Московская область, 142132 

Tatiana E. Deniskova, PhD in Biology, senior researcher of the Group for Genetics and Genomics of Small Ruminants

Dubrovitsy village, 60, Podolsk City District, Moscow Region, 142132

horarka@yandex.ruhttps://orcid.org/0000-0003-4017-6863ЗиновьеваН. А.ZinovievaN. A.

Зиновьева Наталия Анатольевна, доктор биол. наук, профессор, академик Российской академии наук, директор

п. Дубровицы, д. 60, Городской округ Подольск, Московская область, 142132 

Natalia A. Zinovieva, DSc in Biology, Professor, Academician of the Russian Academy of Sciences, Director

Dubrovitsy village, 60, Podolsk City District, Moscow Region, 142132

n_zinovieva@mail.ruФГБНУ «Федеральный научный центр животноводства – ВИЖ имени академика Л. К. Эрнста»РоссияL. K. Ernst Federal Science Center for Animal HusbandryRussian Federation202021082020214355368Copyright © Кошкина О.А., Денискова Т.Е., Зиновьева Н.А., 20202020Кошкина О.А., Денискова Т.Е., Зиновьева Н.А.Koshkina O.A., Deniskova T.E., Zinovieva N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.agronauka-sv.ru/jour/article/view/574

Вариация числа копий (CNV) – это повторяющиеся участки генома, размером от одной тысячи до нескольких миллионов пар оснований, варьирующиеся между особями в популяции. Благодаря большему покрытию генома по сравнению с SNP-маркерами, CNV является важным источником генетической изменчивости и рассматривается в настоящее время как альтернативный тип ДНК-маркеров. Основное внимание уделяется идентификации регионов CNV (CNVR), перекрывающихся с генами и локусами количественных признаков (QTL) в геномах сельскохозяйственных животных. В обзоре обобщены и проанализированы результаты исследований по CNV у различных видов сельскохозяйственных животных, включая идентификацию генов-кандидатов, локусы которых перекрываются с областями CNV, а также дана краткая характеристика методических подходов для изучения вариации числа копий. У крупного рогатого скота было идентифицировано от 51 до 1265 CNVR с долей покрытия генома от 0,5 до 20 %, у свиней – 565 CNVR и 5,84 %, у коз – 978 CNVR и 8,96 %, у овец – 3488 CNVR и 2,7 %, соответственно. Локусы функциональных генов-кандидатов, связанных с экономически-значимыми признаками, перекрывались с CNVR у всех видов сельскохозяйственных животных. Были идентифицированы гены, ассоциированные с показателями роста и развития (MYH3 и GBP4 у крупного рогатого скота; ANP32B, GYS1 и CAV1 у свиней; MYLK4 у коз; SHE, BAG4, PIGY и ORMDL1 у овец), влияющие на репродуктивные признаки и плодовитость (PRP1 и PRP6 у коз, PRLR у крупного рогатого скота, PTGS1 у овец), связанные с мясной продуктивностью (KDM5B, ADAM8 и SHH у коз), ответственные за различные фенотипы окраски кожи или шерсти (KIT у свиней; ASIP, AHCY и ITCH у овец и коз) и вовлечённые в регуляцию обменных процессов (PPARA, RXRA, ADD1, FASN и PPP1CA у овец). Анализ мирового опыта продемонстрировал, что идентифицированные CNV могут быть предложены как потенциальные кандидаты для селекции по экономически значимым признакам у сельскохозяйственных животных.

Copy number variations (CNVs) are repetitive genome segments, ranging from one thousand to several million base pairs and varying between individuals in a population. Due to a larger genome coverage compared to SNP markers, CNVs are important sources of genetic variation and are currently considered as an alternative type of DNA markers. The identification of CNV regions (CNVRs) which overlap with genes and quantitative trait loci (QTLs) in livestock genomes are of the greatest interest. In the review, the results of studies on CNV in various livestock species, are summarized and analyzed including the identification of candidate genes whose loci overlap with CNV regions. In addition, the methodological approaches for detection of copy number variations are briefly described. The number of identified CNVRs and a genome coverage ratio were 51-1265 and 0.5-20 % in cattle, 565 CNVRs and 5.84 % in pigs, 978 CNVR and 8.96 % in goats, 3488 CNVR and 2.7 % in sheep. Loci of functional candidate genes associated with economically significant traits overlap with CNVR in all livestock species. There were identified genes associated with growth and development indicators (MYH3 and GBP4 in cattle; ANP32B, GYS1 and CAV1 in pigs; MYLK4 in goats; SHE, BAG4, PIGY and ORMDL1 in sheep); affecting the reproductive traits and fertility (PRP1 and PRP6 in goats; PTGS1 in sheep); associated with meat productivity (KDM5B, ADAM8 and SHH in goats); responsible for various coat and skin colour phenotypes (KIT in pigs; ASIP, AHCY and ITCH in sheep and goats) and involved in the regulation of metabolic processes (PPARA, RXRA, ADD1, FASN and PPP1CA in sheep). The analysis of international experience showed that identified CNVs could be proposed as potential candidates for selection according to economically significant traits in livestock.

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The authors declare that there are no conflicts of interest present.