Journal
GENETICS AND MOLECULAR BIOLOGY
Volume 45, Issue 1, Pages -Publisher
SOC BRASIL GENETICA
DOI: 10.1590/1678-4685-GMB-2020-0432
Keywords
3 ' UTR; genetic variants; miRNAs; AU-rich elements; biotinidase
Funding
- HCPA Research and Event Incentive Fund (FIPE)
- National Council for Scientific and Technological Development (CNPq)
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Reduced biotinidase activity is associated with genotype-phenotype discrepancies, but variations in the 3'UTR region do not explain these differences. MiRNAs and regulatory elements may play a significant role in the genotype-phenotype association.
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.
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