Frontiers in Genetics (Jan 2020)
Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype
- Donghu Zhou,
- Donghu Zhou,
- Donghu Zhou,
- Saiping Qi,
- Saiping Qi,
- Saiping Qi,
- Wei Zhang,
- Wei Zhang,
- Wei Zhang,
- Wei Zhang,
- Lina Wu,
- Lina Wu,
- Lina Wu,
- Lina Wu,
- Anjian Xu,
- Anjian Xu,
- Anjian Xu,
- Xiaojin Li,
- Xiaojin Li,
- Xiaojin Li,
- Bei Zhang,
- Bei Zhang,
- Bei Zhang,
- Yanmeng Li,
- Yanmeng Li,
- Yanmeng Li,
- Siyu Jia,
- Siyu Jia,
- Siyu Jia,
- Hejing Wang,
- Hejing Wang,
- Hejing Wang,
- Jidong Jia,
- Jidong Jia,
- Jidong Jia,
- Jidong Jia,
- Xiaojuan Ou,
- Xiaojuan Ou,
- Xiaojuan Ou,
- Xiaojuan Ou,
- Jian Huang,
- Jian Huang,
- Jian Huang,
- Jian Huang,
- Jian Huang,
- Hong You,
- Hong You,
- Hong You,
- Hong You,
- Hong You
Affiliations
- Donghu Zhou
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Donghu Zhou
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Donghu Zhou
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Saiping Qi
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Saiping Qi
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Saiping Qi
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Wei Zhang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Wei Zhang
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Wei Zhang
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Wei Zhang
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- Lina Wu
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Lina Wu
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Lina Wu
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Lina Wu
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- Anjian Xu
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Anjian Xu
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Anjian Xu
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Xiaojin Li
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Xiaojin Li
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Xiaojin Li
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Bei Zhang
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Bei Zhang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Bei Zhang
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Yanmeng Li
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Yanmeng Li
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Yanmeng Li
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Siyu Jia
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Siyu Jia
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Siyu Jia
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Hejing Wang
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Hejing Wang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Hejing Wang
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Jidong Jia
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Jidong Jia
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Jidong Jia
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Jidong Jia
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- Xiaojuan Ou
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Xiaojuan Ou
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Xiaojuan Ou
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Xiaojuan Ou
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- Jian Huang
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Jian Huang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Jian Huang
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Jian Huang
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Jian Huang
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- Hong You
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Hong You
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Hong You
- National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Beijing, China
- Hong You
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Hong You
- Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing Friendship Hospital, Beijing, China
- DOI
- https://doi.org/10.3389/fgene.2019.01399
- Journal volume & issue
-
Vol. 10
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 variant was identified. This variant may have been induced by LINE-1 retrotransposon insertion into SLCO1B3 intron 3, and was identified using genome walking. Splicing assay results indicated that the exon inversion, resulting in SLCO1B3 exon 4 (122 bp) exclusion in the mature mRNA, might generate a premature termination codon. Here, we describe an exon inversion contributing to the molecular etiology of Rotor syndrome. Our results may inform future diagnoses and guide drug prescriptions and genetic counseling.
Keywords
