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Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory

Although numerous susceptibility loci are nominated for nicotine dependence (ND), no report showed any association of ARVCF with ND. Through genome-wide sequencing analysis, we first identified genetic variants associated nominally with ND and then replicated them in an independent sample. Of the si...

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Autores principales: Yang, Zhongli, Chen, Jiali, Han, Haijun, Wang, Yan, Shi, Xiaoqiang, Zhang, Bin, Mao, Ying, Li, Andria N., Yuan, Wenji, Yao, Jianhua, Li, Ming D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679859/
https://www.ncbi.nlm.nih.gov/pubmed/38025780
http://dx.doi.org/10.1016/j.isci.2023.108335
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author Yang, Zhongli
Chen, Jiali
Han, Haijun
Wang, Yan
Shi, Xiaoqiang
Zhang, Bin
Mao, Ying
Li, Andria N.
Yuan, Wenji
Yao, Jianhua
Li, Ming D.
author_facet Yang, Zhongli
Chen, Jiali
Han, Haijun
Wang, Yan
Shi, Xiaoqiang
Zhang, Bin
Mao, Ying
Li, Andria N.
Yuan, Wenji
Yao, Jianhua
Li, Ming D.
author_sort Yang, Zhongli
collection PubMed
description Although numerous susceptibility loci are nominated for nicotine dependence (ND), no report showed any association of ARVCF with ND. Through genome-wide sequencing analysis, we first identified genetic variants associated nominally with ND and then replicated them in an independent sample. Of the six replicated variants, rs148582811 in ARVCF located in the enhancer-associated marker peak is attractive. The effective-median-based Mendelian randomization analysis indicated that ARVCF is a causal gene for ND. RNA-seq analysis detected decreased ARVCF expression in smokers compared to nonsmokers. Luciferase reporter assays indicated that rs148582811 and its located DNA fragment allele-specifically regulated ARVCF expression. Immunoprecipitation analysis revealed that transcription factor X-ray repair cross-complementing protein 5 (XRCC5) bound to the DNA fragment containing rs148582811 and allele-specifically regulated ARVCF expression at the mRNA and protein levels. With the Arvcf knockout mouse model, we showed that Arvcf deletion not only impairs hippocampus-dependent learning and memory, but also alleviated nicotine-induced memory deficits.
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spelling pubmed-106798592023-10-28 Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory Yang, Zhongli Chen, Jiali Han, Haijun Wang, Yan Shi, Xiaoqiang Zhang, Bin Mao, Ying Li, Andria N. Yuan, Wenji Yao, Jianhua Li, Ming D. iScience Article Although numerous susceptibility loci are nominated for nicotine dependence (ND), no report showed any association of ARVCF with ND. Through genome-wide sequencing analysis, we first identified genetic variants associated nominally with ND and then replicated them in an independent sample. Of the six replicated variants, rs148582811 in ARVCF located in the enhancer-associated marker peak is attractive. The effective-median-based Mendelian randomization analysis indicated that ARVCF is a causal gene for ND. RNA-seq analysis detected decreased ARVCF expression in smokers compared to nonsmokers. Luciferase reporter assays indicated that rs148582811 and its located DNA fragment allele-specifically regulated ARVCF expression. Immunoprecipitation analysis revealed that transcription factor X-ray repair cross-complementing protein 5 (XRCC5) bound to the DNA fragment containing rs148582811 and allele-specifically regulated ARVCF expression at the mRNA and protein levels. With the Arvcf knockout mouse model, we showed that Arvcf deletion not only impairs hippocampus-dependent learning and memory, but also alleviated nicotine-induced memory deficits. Elsevier 2023-10-28 /pmc/articles/PMC10679859/ /pubmed/38025780 http://dx.doi.org/10.1016/j.isci.2023.108335 Text en © 2023 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Yang, Zhongli
Chen, Jiali
Han, Haijun
Wang, Yan
Shi, Xiaoqiang
Zhang, Bin
Mao, Ying
Li, Andria N.
Yuan, Wenji
Yao, Jianhua
Li, Ming D.
Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title_full Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title_fullStr Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title_full_unstemmed Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title_short Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory
title_sort single nucleotide polymorphisms rs148582811 regulates its host gene arvcf expression to affect nicotine-associated hippocampus-dependent memory
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679859/
https://www.ncbi.nlm.nih.gov/pubmed/38025780
http://dx.doi.org/10.1016/j.isci.2023.108335
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