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VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer

BACKGROUND: ABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in bladder cancer, and high expression in solid cancer has also been detected. METHODS: Here, we used the NCBI database, UCSC genome browser gateway and Tand...

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Autores principales: Kim, Min-Hye, Yang, Gi-Eun, Jeong, Mi-So, Mun, Jeong-Yeon, Lee, Sang-Yeop, Nam, Jong-Kil, Choi, Yung Hyun, Kim, Tae Nam, Leem, Sun-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097952/
https://www.ncbi.nlm.nih.gov/pubmed/33952249
http://dx.doi.org/10.1186/s12920-021-00968-1
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author Kim, Min-Hye
Yang, Gi-Eun
Jeong, Mi-So
Mun, Jeong-Yeon
Lee, Sang-Yeop
Nam, Jong-Kil
Choi, Yung Hyun
Kim, Tae Nam
Leem, Sun-Hee
author_facet Kim, Min-Hye
Yang, Gi-Eun
Jeong, Mi-So
Mun, Jeong-Yeon
Lee, Sang-Yeop
Nam, Jong-Kil
Choi, Yung Hyun
Kim, Tae Nam
Leem, Sun-Hee
author_sort Kim, Min-Hye
collection PubMed
description BACKGROUND: ABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in bladder cancer, and high expression in solid cancer has also been detected. METHODS: Here, we used the NCBI database, UCSC genome browser gateway and Tandem repeat finder program to investigate the structural characterization of the ABL1 breakpoint region and to identify the variable number of tandem repeats (VNTR). To investigate the relationship between ABL1-MS1 and bladder cancer, a case-controlled study was conducted in 207 controls and 197 bladder cancer patients. We also examined the level of transcription of the reporter gene driven by the ABL1 promoter to determine if the VNTR region affects gene expression. RESULTS: In our study, one VNTR was identified in the breakpoint region, the intron 1 region of ABL1, and was named ABL1-MS1. In the control group, only two common alleles (TR13, TR15) were detected, but an additional two rare alleles (TR14, TR16) were detected in bladder cancer. A statistically significant association was identified between the rare ABL1-MS1 allele and bladder cancer risk: P = 0.013. Investigating the level of transcription of the reporter gene driven by the ABL1 promoter, VNTR showed inhibition of ABL1 expression in non-cancer cells 293 T, but not in bladder cancer cells. In addition, ABL1-MS1 was accurately passed on to offspring according to Mendelian inheritance through meiosis. CONCLUSIONS: Therefore, the ABL1-MS1 region can affect ABL1 expression of bladder cancer. This study provides that ABL1-MS1 can be used as a DNA fingerprinting marker. In addition, rare allele detection can predict susceptibility to bladder cancer. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-00968-1.
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spelling pubmed-80979522021-05-05 VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer Kim, Min-Hye Yang, Gi-Eun Jeong, Mi-So Mun, Jeong-Yeon Lee, Sang-Yeop Nam, Jong-Kil Choi, Yung Hyun Kim, Tae Nam Leem, Sun-Hee BMC Med Genomics Research BACKGROUND: ABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in bladder cancer, and high expression in solid cancer has also been detected. METHODS: Here, we used the NCBI database, UCSC genome browser gateway and Tandem repeat finder program to investigate the structural characterization of the ABL1 breakpoint region and to identify the variable number of tandem repeats (VNTR). To investigate the relationship between ABL1-MS1 and bladder cancer, a case-controlled study was conducted in 207 controls and 197 bladder cancer patients. We also examined the level of transcription of the reporter gene driven by the ABL1 promoter to determine if the VNTR region affects gene expression. RESULTS: In our study, one VNTR was identified in the breakpoint region, the intron 1 region of ABL1, and was named ABL1-MS1. In the control group, only two common alleles (TR13, TR15) were detected, but an additional two rare alleles (TR14, TR16) were detected in bladder cancer. A statistically significant association was identified between the rare ABL1-MS1 allele and bladder cancer risk: P = 0.013. Investigating the level of transcription of the reporter gene driven by the ABL1 promoter, VNTR showed inhibition of ABL1 expression in non-cancer cells 293 T, but not in bladder cancer cells. In addition, ABL1-MS1 was accurately passed on to offspring according to Mendelian inheritance through meiosis. CONCLUSIONS: Therefore, the ABL1-MS1 region can affect ABL1 expression of bladder cancer. This study provides that ABL1-MS1 can be used as a DNA fingerprinting marker. In addition, rare allele detection can predict susceptibility to bladder cancer. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-00968-1. BioMed Central 2021-05-05 /pmc/articles/PMC8097952/ /pubmed/33952249 http://dx.doi.org/10.1186/s12920-021-00968-1 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Kim, Min-Hye
Yang, Gi-Eun
Jeong, Mi-So
Mun, Jeong-Yeon
Lee, Sang-Yeop
Nam, Jong-Kil
Choi, Yung Hyun
Kim, Tae Nam
Leem, Sun-Hee
VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title_full VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title_fullStr VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title_full_unstemmed VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title_short VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
title_sort vntr polymorphism in the breakpoint region of abl1 and susceptibility to bladder cancer
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097952/
https://www.ncbi.nlm.nih.gov/pubmed/33952249
http://dx.doi.org/10.1186/s12920-021-00968-1
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