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Basic Characteristics of Mutations
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Mutation Site
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G2765A |
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Mutation Site Sentence
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The other mutations including T to G mutation at the 2768th base (T2768G), G to A mutation at the 2765th base (G2765A), and T2768G+G2765A combined mutation were all located at the binding site of Sp1 and were present in 33.33% (3/9), 11.11% (1/9) and 11.11% (1/9) of mothers, respectively. |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Gene/Protein/Region
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PreS1 Promoter |
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Standardized Encoding Gene
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Genotype/Subtype
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C2 |
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Viral Reference
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-
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Functional Impact and Mechanisms
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Disease
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Hepatitis B Virus Infection
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Immune
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- |
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Target Gene
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SP1
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Clinical and Epidemiological Correlations
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Clinical Information
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Y |
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Treatment
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- |
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Location
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China |
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Literature Information
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PMID
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36919573
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Title
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C2729T mutation associated with HBV mother-to-child transmission reduces HBV production via suppressing LHBs expression
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Author
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Liu M,Song Y,Li Y,Yang X,Zhuang H,Li J,Wang J
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Journal
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Virulence
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Journal Info
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2023 Dec;14(1):2189676
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Abstract
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Mother-to-child transmission (MTCT) is still the main route of hepatitis B virus (HBV) infection. However, the virological factors affecting HBV MTCT have not been fully elucidated. In this study, based on a prospective cohort of mother-infant pairs with positive maternal hepatitis B surface antigen (HBsAg), we found that the average nucleotide mutation rate of HBV preS1 promoter (SPI) region in the immunoprophylaxis success group was significantly higher than that in the immunoprophylaxis failure group. Among the nucleotide mutations of the HBV SPI region, the C2729T mutation had the highest frequency. Next, we found that the C2729T mutation promoted HBsAg release but reduced HBV production by suppressing the expression of large hepatitis B surface antigen (LHBs), and overexpressing LHBs could rescue this phenomenon. Based on the fact that the C2729T mutation could alter the binding site of hepatocyte nuclear factor 1 (HNF1) in the HBV SPI region, we uncovered that such an alteration could downregulate the transcriptional activity of SPI by attenuating the binding ability of HNF1 and HBV SPI region. This study suggests that HBV C2729T mutation may contribute to the immunoprophylaxis success of HBV MTCT by reducing HBV production, which supplements the virological factors affecting HBV MTCT.
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Sequence Data
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-
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