Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’U...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2022-02-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100105&lng=en&tlng=en |
| _version_ | 1819278739837550592 |
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| author | Gerda Cristal Villalba Silva Taciane Borsatto Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig |
| author_facet | Gerda Cristal Villalba Silva Taciane Borsatto Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig |
| author_sort | Gerda Cristal Villalba Silva |
| collection | DOAJ |
| description | Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to characterize the regulatory elements of the 3’UTR of the BTD gene and identify variants and miRNAs which may explain the discrepancies observed between genotype and biochemical phenotype. We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) with previously determined BTD genotype. The 3’UTR of the BTD gene was Sanger sequenced. In silico analysis was performed to identify miRNAs and regulatory elements. No variants were found in the 3’UTR. We found 97 possible miRNAs associated with the BTD gene, 49 predicted miRNAs involved in the alanine, biotin, citrate and pyruvate metabolic pathways and 5 genes involved in biotin metabolism. Six AU-rich elements were found. Our data suggest variants in the 3'UTR of BTD do not explain the genotype-phenotype discrepancies found in Brazilian individuals with reduced biotinidase. |
| first_indexed | 2024-12-24T00:16:48Z |
| format | Article |
| id | doaj.art-5c357a6841ad42338653153c43ea9cba |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-24T00:16:48Z |
| publishDate | 2022-02-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-5c357a6841ad42338653153c43ea9cba2022-12-21T17:24:42ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852022-02-0145110.1590/1678-4685-gmb-2020-0432Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAsGerda Cristal Villalba Silvahttps://orcid.org/0000-0003-0283-7982Taciane BorsattoIda Vanessa Doederlein Schwartzhttps://orcid.org/0000-0002-7933-6687Fernanda Sperb-Ludwighttps://orcid.org/0000-0002-2460-7064Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to characterize the regulatory elements of the 3’UTR of the BTD gene and identify variants and miRNAs which may explain the discrepancies observed between genotype and biochemical phenotype. We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) with previously determined BTD genotype. The 3’UTR of the BTD gene was Sanger sequenced. In silico analysis was performed to identify miRNAs and regulatory elements. No variants were found in the 3’UTR. We found 97 possible miRNAs associated with the BTD gene, 49 predicted miRNAs involved in the alanine, biotin, citrate and pyruvate metabolic pathways and 5 genes involved in biotin metabolism. Six AU-rich elements were found. Our data suggest variants in the 3'UTR of BTD do not explain the genotype-phenotype discrepancies found in Brazilian individuals with reduced biotinidase.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100105&lng=en&tlng=en3′UTRgenetic variantsmiRNAsAU-rich elementsbiotinidase |
| spellingShingle | Gerda Cristal Villalba Silva Taciane Borsatto Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs Genetics and Molecular Biology 3′UTR genetic variants miRNAs AU-rich elements biotinidase |
| title | Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs |
| title_full | Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs |
| title_fullStr | Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs |
| title_full_unstemmed | Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs |
| title_short | Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs |
| title_sort | characterization of the 3 utr of the btd gene and identification of regulatory elements and micrornas |
| topic | 3′UTR genetic variants miRNAs AU-rich elements biotinidase |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100105&lng=en&tlng=en |
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