Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea
Schistosomus reflexus (SR) is one of the most common congenital anomalies found in cases of cattle dystocia; this disorder occurs mostly in cattle. Congenital anomalies such as SR are caused by various genetic and environmental factors, but no specific cause has been elucidated for SR. This study re...
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Veterinary Science |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fvets.2023.1238544/full |
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| author | Woncheoul Park Han-Ha Chai Dajeong Lim Changgwon Dang Jaegu Lee Jongho Kim Hogyun Jeong Taekwon Lee Ki-Chang Lee Kyunghyun Lee |
| author_facet | Woncheoul Park Han-Ha Chai Dajeong Lim Changgwon Dang Jaegu Lee Jongho Kim Hogyun Jeong Taekwon Lee Ki-Chang Lee Kyunghyun Lee |
| author_sort | Woncheoul Park |
| collection | DOAJ |
| description | Schistosomus reflexus (SR) is one of the most common congenital anomalies found in cases of cattle dystocia; this disorder occurs mostly in cattle. Congenital anomalies such as SR are caused by various genetic and environmental factors, but no specific cause has been elucidated for SR. This study reports a case of SR in a Holstein dairy cattle fetus with congenital anomalies in Korea. Grossly, a distinct spine curvature was observed between the thoracic and lumbar vertebrae, accompanied by a consequential malformation from the sacrum to the occipital bone. Furthermore, the thoracic and abdominal organs were exposed. In computed tomography (CT) images, mild and severe kyphoscoliosis was observed in T1~11 and L1~6, respectively. Additionally, vertebral dysplasia was observed in S1~5 and Cd 1~5. To pinpoint the causal genes and mutations, we leveraged a custom 50K Hanwoo SNP-Chip and the Online Mendelian Inheritance in Animals (OMIA) database. As a result, we identified a nonsense mutation in apoptotic protease activating factor 1 (APAF1) within HH1 that was associated with a decrease in conception rate and an increase in abortion in Holstein dairy cattle. The genotype of the SR case was A/A, and most of the 1,142 normal Holstein dairy cattle tested as a control group had the genotype G/G. In addition, the A/A genotype did not exist in the control group. Based on the pathological, genetic, and radiological findings, the congenital abnormalities observed were diagnosed as SR. |
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| last_indexed | 2024-03-12T14:08:04Z |
| publishDate | 2023-08-01 |
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| series | Frontiers in Veterinary Science |
| spelling | doaj.art-bdfd0cc494224f5593421206e01293492023-08-21T13:18:28ZengFrontiers Media S.A.Frontiers in Veterinary Science2297-17692023-08-011010.3389/fvets.2023.12385441238544Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in KoreaWoncheoul Park0Han-Ha Chai1Dajeong Lim2Changgwon Dang3Jaegu Lee4Jongho Kim5Hogyun Jeong6Taekwon Lee7Ki-Chang Lee8Kyunghyun Lee9Animal Genomics and Bioinformatics Division, National Institute of Animal Science, Rural Development Administration (RDA), Wanju-gun, Republic of KoreaAnimal Genomics and Bioinformatics Division, National Institute of Animal Science, Rural Development Administration (RDA), Wanju-gun, Republic of KoreaAnimal Genomics and Bioinformatics Division, National Institute of Animal Science, Rural Development Administration (RDA), Wanju-gun, Republic of KoreaAnimal Genetics and Breeding Division, National Institute of Animal Science, Rural Development Administration (RDA), Cheonan-si, Chungcheongnam-do, Republic of KoreaAnimal Genetics and Breeding Division, National Institute of Animal Science, Rural Development Administration (RDA), Cheonan-si, Chungcheongnam-do, Republic of KoreaAnimal Disease Diagnostic Division, Animal and Plant Quarantine Agency, Gimcheon-si, Republic of KoreaVeterinary Medicine College, Jeongbuk National University, Iksan-si, Republic of KoreaVeterinary Medicine College, Jeongbuk National University, Iksan-si, Republic of KoreaVeterinary Medicine College, Jeongbuk National University, Iksan-si, Republic of KoreaAnimal Disease Diagnostic Division, Animal and Plant Quarantine Agency, Gimcheon-si, Republic of KoreaSchistosomus reflexus (SR) is one of the most common congenital anomalies found in cases of cattle dystocia; this disorder occurs mostly in cattle. Congenital anomalies such as SR are caused by various genetic and environmental factors, but no specific cause has been elucidated for SR. This study reports a case of SR in a Holstein dairy cattle fetus with congenital anomalies in Korea. Grossly, a distinct spine curvature was observed between the thoracic and lumbar vertebrae, accompanied by a consequential malformation from the sacrum to the occipital bone. Furthermore, the thoracic and abdominal organs were exposed. In computed tomography (CT) images, mild and severe kyphoscoliosis was observed in T1~11 and L1~6, respectively. Additionally, vertebral dysplasia was observed in S1~5 and Cd 1~5. To pinpoint the causal genes and mutations, we leveraged a custom 50K Hanwoo SNP-Chip and the Online Mendelian Inheritance in Animals (OMIA) database. As a result, we identified a nonsense mutation in apoptotic protease activating factor 1 (APAF1) within HH1 that was associated with a decrease in conception rate and an increase in abortion in Holstein dairy cattle. The genotype of the SR case was A/A, and most of the 1,142 normal Holstein dairy cattle tested as a control group had the genotype G/G. In addition, the A/A genotype did not exist in the control group. Based on the pathological, genetic, and radiological findings, the congenital abnormalities observed were diagnosed as SR.https://www.frontiersin.org/articles/10.3389/fvets.2023.1238544/fullschistosomus reflexusHolsteingenetic mutationvertebrae dysplasiafetusSNP-Chip |
| spellingShingle | Woncheoul Park Han-Ha Chai Dajeong Lim Changgwon Dang Jaegu Lee Jongho Kim Hogyun Jeong Taekwon Lee Ki-Chang Lee Kyunghyun Lee Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea Frontiers in Veterinary Science schistosomus reflexus Holstein genetic mutation vertebrae dysplasia fetus SNP-Chip |
| title | Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea |
| title_full | Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea |
| title_fullStr | Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea |
| title_full_unstemmed | Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea |
| title_short | Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea |
| title_sort | case report investigation of genetic mutations in a case of schistosomus reflexus in a holstein dairy cattle fetus in korea |
| topic | schistosomus reflexus Holstein genetic mutation vertebrae dysplasia fetus SNP-Chip |
| url | https://www.frontiersin.org/articles/10.3389/fvets.2023.1238544/full |
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