The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs
Abstract Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum. Some variants in the Wolfram Syndrome 1 gene (WFS1) were associated with various neuropsychiatric disorders in humans, such as aggressiven...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-07-01
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| Series: | BMC Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12863-020-00879-7 |
| _version_ | 1818229132115312640 |
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| author | Dora Koller Eniko Kubinyi Zsuzsanna Elek Helga Nemeth Adam Miklosi Maria Sasvari-Szekely Zsolt Ronai |
| author_facet | Dora Koller Eniko Kubinyi Zsuzsanna Elek Helga Nemeth Adam Miklosi Maria Sasvari-Szekely Zsolt Ronai |
| author_sort | Dora Koller |
| collection | DOAJ |
| description | Abstract Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum. Some variants in the Wolfram Syndrome 1 gene (WFS1) were associated with various neuropsychiatric disorders in humans, such as aggressiveness, impulsivity and anxiety. Results Here we present an in silico study predicting a single nucleotide polymorphism (rs852850348) in the canine WFS1 gene which was verified by direct sequencing and was genotyped by a PCR-based technique. We found that the rs852850348 polymorphism is located in a putative microRNA (cfa-miR-8834a and cfa-miR-1838) binding site. Therefore, the molecular effect of allelic variants was studied in a luciferase reporter system that allowed assessing gene expression. We demonstrated that the variant reduced the activity of the reporter protein expression in an allele-specific manner. Additionally, we performed a behavioral experiment and investigated the association with this locus to different performance in this test. Association was found between food possessivity and the studied WFS1 gene polymorphism in the Border collie breed. Conclusions Based on our findings, the rs852850348 locus might contribute to the genetic risk of possessivity behavior of dogs in at least one breed and might influence the regulation of wolframin expression. |
| first_indexed | 2024-12-12T10:13:44Z |
| format | Article |
| id | doaj.art-68208319e56243bbb45d08019612818e |
| institution | Directory Open Access Journal |
| issn | 1471-2156 |
| language | English |
| last_indexed | 2024-12-12T10:13:44Z |
| publishDate | 2020-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genetics |
| spelling | doaj.art-68208319e56243bbb45d08019612818e2022-12-22T00:27:43ZengBMCBMC Genetics1471-21562020-07-0121111010.1186/s12863-020-00879-7The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogsDora Koller0Eniko Kubinyi1Zsuzsanna Elek2Helga Nemeth3Adam Miklosi4Maria Sasvari-Szekely5Zsolt Ronai6Comparative Ethology Research Group, MTA-ELTEComparative Ethology Research Group, MTA-ELTEDepartment of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis UniversityDepartment of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis UniversityComparative Ethology Research Group, MTA-ELTEDepartment of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis UniversityDepartment of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis UniversityAbstract Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum. Some variants in the Wolfram Syndrome 1 gene (WFS1) were associated with various neuropsychiatric disorders in humans, such as aggressiveness, impulsivity and anxiety. Results Here we present an in silico study predicting a single nucleotide polymorphism (rs852850348) in the canine WFS1 gene which was verified by direct sequencing and was genotyped by a PCR-based technique. We found that the rs852850348 polymorphism is located in a putative microRNA (cfa-miR-8834a and cfa-miR-1838) binding site. Therefore, the molecular effect of allelic variants was studied in a luciferase reporter system that allowed assessing gene expression. We demonstrated that the variant reduced the activity of the reporter protein expression in an allele-specific manner. Additionally, we performed a behavioral experiment and investigated the association with this locus to different performance in this test. Association was found between food possessivity and the studied WFS1 gene polymorphism in the Border collie breed. Conclusions Based on our findings, the rs852850348 locus might contribute to the genetic risk of possessivity behavior of dogs in at least one breed and might influence the regulation of wolframin expression.http://link.springer.com/article/10.1186/s12863-020-00879-7WFS1PolymorphismmiRNADogBehavior |
| spellingShingle | Dora Koller Eniko Kubinyi Zsuzsanna Elek Helga Nemeth Adam Miklosi Maria Sasvari-Szekely Zsolt Ronai The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs BMC Genetics WFS1 Polymorphism miRNA Dog Behavior |
| title | The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs |
| title_full | The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs |
| title_fullStr | The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs |
| title_full_unstemmed | The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs |
| title_short | The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs |
| title_sort | molecular effect of a polymorphic microrna binding site of wolfram syndrome 1 gene in dogs |
| topic | WFS1 Polymorphism miRNA Dog Behavior |
| url | http://link.springer.com/article/10.1186/s12863-020-00879-7 |
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