Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype

Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype

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...

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Bibliographic Details
Main Authors: Donghu Zhou, Saiping Qi, Wei Zhang, Lina Wu, Anjian Xu, Xiaojin Li, Bei Zhang, Yanmeng Li, Siyu Jia, Hejing Wang, Jidong Jia, Xiaojuan Ou, Jian Huang, Hong You
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Genetics
Subjects:
Rotor syndrome
SLCO1B1
SLCO1B3
mutation
LINE-1 retrotransposon
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01399/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.01399/full

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