2020
DOI: 10.3389/fgene.2019.01399
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Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype

Abstract: Rotor syndrome, a rare autosomal-recessive genetic disorder characterized by conjugated hyperbilirubinemia, is caused by biallelic pathogenic variants in both SLCO1B1 and SLCO1B3 genes. Long interspersed nuclear elements (LINEs) make up about 17% of the human genome and insertion of LINE-1 in genes can result in genetic diseases. In the current study, we examined SLCO1B1 and SLCO1B3 genes in two Chinese patients diagnosed with Rotor syndrome based on laboratory tests. In one patient, a novel exon 4 inversion v… Show more

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Cited by 3 publications
(3 citation statements)
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“…In SCLO1B3 , we identified a long‐interspersed element (LINE‐1, L1) insertion in intron 3 and the consequent inversion of exon 4 (NM_001349920.2), which has been previously reported in Chinese patients with Rotor syndrome (Figure 3). 24 These findings highlight the importance of a comprehensive analysis of multi‐genetic mutations and recurrent structure variations in the bilirubin metabolism pathway.…”
Section: Main Outcomes and Measuresmentioning
confidence: 97%
See 1 more Smart Citation
“…In SCLO1B3 , we identified a long‐interspersed element (LINE‐1, L1) insertion in intron 3 and the consequent inversion of exon 4 (NM_001349920.2), which has been previously reported in Chinese patients with Rotor syndrome (Figure 3). 24 These findings highlight the importance of a comprehensive analysis of multi‐genetic mutations and recurrent structure variations in the bilirubin metabolism pathway.…”
Section: Main Outcomes and Measuresmentioning
confidence: 97%
“…In SCLO1B3, we identified a long-interspersed element (LINE-1, L1) insertion in intron 3 and the consequent inversion of exon 4 (NM_001349920.2), which has been previously reported in Chinese patients with Rotor syndrome (Figure 3). 24…”
Section: Cohort Demographics and Molecular Diagnostic Yieldmentioning
confidence: 99%
“…RFX1 also prevented the metastasis of multiple glioblastoma cell lines via down-regulating CD44 expression [ 2 ]. RFX1 knockout led to decreased HDAC1 and SUV39H1 recruitment to the MCP1 promoter, increasing its expression [ 68 ], which on the other hand, promotes EMT and cell migration in MCF-7 and OML1 (human head and neck cancer cell line) [ 8 , 69 ]. RFX1 can inhibit cell migration and invasion by repressing FGF1 in many cancers [ 7 , 70 , 71 ].…”
Section: Rfx1 and Cancermentioning
confidence: 99%