Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene
Objective To detect the gene mutations in patients with Adenocarcinoma at esophagogastric junction(AEG) and to analyze the effect of Involucrin (IVL) mutation on the biological function of tumor cells. Methods Whole exome sequencing was performed on cancerous and paired adjacent normal tissues from...
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| Format: | Article |
| Language: | zho |
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Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2022-02-01
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| Series: | Jichu yixue yu linchuang |
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| Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-2-235.pdf |
| _version_ | 1797365855024054272 |
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| author | LYU Xue, LI Xue-wei, YANG Ting, ZHENG Jin-xiu, ZHU Zi-he, YANG Tao, XU Jun |
| author_facet | LYU Xue, LI Xue-wei, YANG Ting, ZHENG Jin-xiu, ZHU Zi-he, YANG Tao, XU Jun |
| author_sort | LYU Xue, LI Xue-wei, YANG Ting, ZHENG Jin-xiu, ZHU Zi-he, YANG Tao, XU Jun |
| collection | DOAJ |
| description | Objective To detect the gene mutations in patients with Adenocarcinoma at esophagogastric junction(AEG) and to analyze the effect of Involucrin (IVL) mutation on the biological function of tumor cells. Methods Whole exome sequencing was performed on cancerous and paired adjacent normal tissues from 22 AEG patients in Shanxi province. IVL was selected for further investigation of mutation sites. Esophagus cancer data from TCGA were divided into three groups based on IVL mutations. Differentially-expressed genes were screened and proceeded via Gene Ontology (GO) annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Cell proliferation and migration assays were performed to evaluate the effect of over-expression of IVL on KYSE 150 cells. Mutant IVL oligopeptides were synthesized and used to evaluate the binding activity with TGase1. Results Five IVL mutation sites were identified in 22 AEG. GO annotation indicated that these mutations were related to the epithelial differentiation and activity of cell differentiation regulation. KEGG analysis demonstrates that IVL mutations are associated with cAMP signaling pathway. IVL over-expression inhibits the proliferation and migration of esophageal cancer cells(P＜0.05). In addition, Q439H mutant IVL oligopeptides shows lower binding affinity to TGase1 than wild-type oligopeptides. Conclusions The seventh amino acid mutation in IVL repeat motif does weaken IVL binding to TGase1. This mutation may affect tumor-related biological processes and signaling pathways. |
| first_indexed | 2024-03-08T16:55:51Z |
| format | Article |
| id | doaj.art-66008c8bedd14bd6892dd0073ac93995 |
| institution | Directory Open Access Journal |
| issn | 1001-6325 |
| language | zho |
| last_indexed | 2024-03-08T16:55:51Z |
| publishDate | 2022-02-01 |
| publisher | Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. |
| record_format | Article |
| series | Jichu yixue yu linchuang |
| spelling | doaj.art-66008c8bedd14bd6892dd0073ac939952024-01-05T02:34:11ZzhoInstitute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.Jichu yixue yu linchuang1001-63252022-02-0142223524210.16352/j.issn.1001-6325.2022.02.028Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin geneLYU Xue, LI Xue-wei, YANG Ting, ZHENG Jin-xiu, ZHU Zi-he, YANG Tao, XU Jun0Department of Biochemistry and Molecular Biology;;2. Department of Pharmacology;;3. Key Laboratory of Cellular Physiology,Ministry of Education, Shanxi Medical University,Taiyuan 030001;;4. Department of Hepatopancreatobiliary Surgery,the First Hospital of Shanxi Medical University, Taiyuan 030001,ChinaObjective To detect the gene mutations in patients with Adenocarcinoma at esophagogastric junction(AEG) and to analyze the effect of Involucrin (IVL) mutation on the biological function of tumor cells. Methods Whole exome sequencing was performed on cancerous and paired adjacent normal tissues from 22 AEG patients in Shanxi province. IVL was selected for further investigation of mutation sites. Esophagus cancer data from TCGA were divided into three groups based on IVL mutations. Differentially-expressed genes were screened and proceeded via Gene Ontology (GO) annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Cell proliferation and migration assays were performed to evaluate the effect of over-expression of IVL on KYSE 150 cells. Mutant IVL oligopeptides were synthesized and used to evaluate the binding activity with TGase1. Results Five IVL mutation sites were identified in 22 AEG. GO annotation indicated that these mutations were related to the epithelial differentiation and activity of cell differentiation regulation. KEGG analysis demonstrates that IVL mutations are associated with cAMP signaling pathway. IVL over-expression inhibits the proliferation and migration of esophageal cancer cells(P＜0.05). In addition, Q439H mutant IVL oligopeptides shows lower binding affinity to TGase1 than wild-type oligopeptides. Conclusions The seventh amino acid mutation in IVL repeat motif does weaken IVL binding to TGase1. This mutation may affect tumor-related biological processes and signaling pathways.http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-2-235.pdfadenocarcinoma at esophagogastric junction|involucrin|gene mutation |
| spellingShingle | LYU Xue, LI Xue-wei, YANG Ting, ZHENG Jin-xiu, ZHU Zi-he, YANG Tao, XU Jun Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene Jichu yixue yu linchuang adenocarcinoma at esophagogastric junction|involucrin|gene mutation |
| title | Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene |
| title_full | Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene |
| title_fullStr | Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene |
| title_full_unstemmed | Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene |
| title_short | Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene |
| title_sort | bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of involucrin gene |
| topic | adenocarcinoma at esophagogastric junction|involucrin|gene mutation |
| url | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-2-235.pdf |
| work_keys_str_mv | AT lyuxuelixueweiyangtingzhengjinxiuzhuziheyangtaoxujun bioinformaticanalysisofadenocarcinomaatesophagogastricjunctionandmutationsitesscreeningofinvolucringene |