Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas
Pheochromocytomas (PCs) are tumors originating from the chromaffin cells of the adrenal medulla. In people, there are highly correlated to inherited gene mutations in the succinate dehydrogenase (SDH) pathway; however, to date, little work has been done on the genetic basis of these tumors in animal...
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| Format: | Article |
| Language: | Arabic |
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University of Mosul, College of Veterinary Medicine
2022-12-01
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| Series: | Iraqi Journal of Veterinary Sciences |
| Subjects: | |
| Online Access: | https://www.vetmedmosul.com/article_176333_76ec2c98a816c9f5b6e6541fcaeece91.pdf |
| _version_ | 1811198556118188032 |
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| author | Firas M. Abed Michael J. Dark |
| author_facet | Firas M. Abed Michael J. Dark |
| author_sort | Firas M. Abed |
| collection | DOAJ |
| description | Pheochromocytomas (PCs) are tumors originating from the chromaffin cells of the adrenal medulla. In people, there are highly correlated to inherited gene mutations in the succinate dehydrogenase (SDH) pathway; however, to date, little work has been done on the genetic basis of these tumors in animals. Out of the total of 2.203 Gb of canine DNA sequenced, 88.35% of bases mapped to exons and 11.65% mapped to introns. Out of 26 genes of interest containing 404 exons, 278 exons were sequenced 68.81%. Sequencing was considered successful when the average read depth was 3x and the entire exon was covered. Coverage ranged from 30% to 100%. Both SDHA and SDHB had exon mapped 46.6% and 62.5% respectively. Additionally, out of 45 known canine variants, exome technique able to detect 36 variants (80%). We performed SDHA and SDHB immunohistochemistry on 35 canine formalin-fixed, paraffin embedded. Interestingly, we had loss of immunoreactivity for both SDHA and SDHB in four samples, suggesting a mutation in SDHx including SDHA. Out of 35 samples, 6 had immunoreactivity for SDHA and 25 lacked immunoreactivities for SDHB. 29 out of the 35 (82%) may have an SDH family mutation other than SDHA. Exome sequencing and immunohistochemistry are able to predict malignant behavior and likelihood of reduction of PCC/PGLs in humans. This can be used to determine whether there are similar mutations in the pseudo-hypoxic, kinase signaling, and other genes of interest exist in dogs, as well as finding novel genes involved in canine Pheochromocytomas oncogenesis. |
| first_indexed | 2024-04-12T01:33:30Z |
| format | Article |
| id | doaj.art-d11992e84ae541f095c803c78f6685be |
| institution | Directory Open Access Journal |
| issn | 1607-3894 2071-1255 |
| language | Arabic |
| last_indexed | 2024-04-12T01:33:30Z |
| publishDate | 2022-12-01 |
| publisher | University of Mosul, College of Veterinary Medicine |
| record_format | Article |
| series | Iraqi Journal of Veterinary Sciences |
| spelling | doaj.art-d11992e84ae541f095c803c78f6685be2022-12-22T03:53:25ZaraUniversity of Mosul, College of Veterinary MedicineIraqi Journal of Veterinary Sciences1607-38942071-12552022-12-0136Supplement I14315010.33899/ijvs.2022.135825.2526176333Exome sequencing and SDH (A, B) immunohistochemistry of canine PheochromocytomasFiras M. Abed0Michael J. Dark1Department of Pathology and poultry disease, College of Veterinary Medicine, University of Mosul, Mosul, IraqDepartment of Comparative, Diagnostic and Population Medicine, College of Veterinary Medicine, University of Florida, Gainesville, FL, USAPheochromocytomas (PCs) are tumors originating from the chromaffin cells of the adrenal medulla. In people, there are highly correlated to inherited gene mutations in the succinate dehydrogenase (SDH) pathway; however, to date, little work has been done on the genetic basis of these tumors in animals. Out of the total of 2.203 Gb of canine DNA sequenced, 88.35% of bases mapped to exons and 11.65% mapped to introns. Out of 26 genes of interest containing 404 exons, 278 exons were sequenced 68.81%. Sequencing was considered successful when the average read depth was 3x and the entire exon was covered. Coverage ranged from 30% to 100%. Both SDHA and SDHB had exon mapped 46.6% and 62.5% respectively. Additionally, out of 45 known canine variants, exome technique able to detect 36 variants (80%). We performed SDHA and SDHB immunohistochemistry on 35 canine formalin-fixed, paraffin embedded. Interestingly, we had loss of immunoreactivity for both SDHA and SDHB in four samples, suggesting a mutation in SDHx including SDHA. Out of 35 samples, 6 had immunoreactivity for SDHA and 25 lacked immunoreactivities for SDHB. 29 out of the 35 (82%) may have an SDH family mutation other than SDHA. Exome sequencing and immunohistochemistry are able to predict malignant behavior and likelihood of reduction of PCC/PGLs in humans. This can be used to determine whether there are similar mutations in the pseudo-hypoxic, kinase signaling, and other genes of interest exist in dogs, as well as finding novel genes involved in canine Pheochromocytomas oncogenesis.https://www.vetmedmosul.com/article_176333_76ec2c98a816c9f5b6e6541fcaeece91.pdfexome sequencingpheochromocytomassdhsdhasdhb |
| spellingShingle | Firas M. Abed Michael J. Dark Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas Iraqi Journal of Veterinary Sciences exome sequencing pheochromocytomas sdh sdha sdhb |
| title | Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas |
| title_full | Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas |
| title_fullStr | Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas |
| title_full_unstemmed | Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas |
| title_short | Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas |
| title_sort | exome sequencing and sdh a b immunohistochemistry of canine pheochromocytomas |
| topic | exome sequencing pheochromocytomas sdh sdha sdhb |
| url | https://www.vetmedmosul.com/article_176333_76ec2c98a816c9f5b6e6541fcaeece91.pdf |
| work_keys_str_mv | AT firasmabed exomesequencingandsdhabimmunohistochemistryofcaninepheochromocytomas AT michaeljdark exomesequencingandsdhabimmunohistochemistryofcaninepheochromocytomas |