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Expanding the potential genes of inborn errors of immunity through protein interactions
BACKGROUND: Inborn errors of immunity (IEI) are a group of genetic disorders that impair the immune system, with over 400 genes described so far, and hundreds more to be discovered. To facilitate the search for new genes, we need a way to prioritize among all the genes in the genome those most likel...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8364696/ https://www.ncbi.nlm.nih.gov/pubmed/34391382 http://dx.doi.org/10.1186/s12864-021-07909-3 |
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author | Khan, Humza A. Butte, Manish J. |
author_facet | Khan, Humza A. Butte, Manish J. |
author_sort | Khan, Humza A. |
collection | PubMed |
description | BACKGROUND: Inborn errors of immunity (IEI) are a group of genetic disorders that impair the immune system, with over 400 genes described so far, and hundreds more to be discovered. To facilitate the search for new genes, we need a way to prioritize among all the genes in the genome those most likely to play an important role in immunity. RESULTS: Here we identify a new list of genes by linking known IEI genes to new ones by using open-source databases of protein-protein interactions, post-translational modifications, and transcriptional regulation. We analyze this new set of 2,530 IEI-related genes for their tolerance of genetic variation and by their expression levels in various immune cell types. CONCLUSIONS: By merging genes derived from protein interactions of known IEI genes with transcriptional data, we offer a new list of candidate genes that may play a role in as-yet undiscovered IEIs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-07909-3. |
format | Online Article Text |
id | pubmed-8364696 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-83646962021-08-17 Expanding the potential genes of inborn errors of immunity through protein interactions Khan, Humza A. Butte, Manish J. BMC Genomics Research BACKGROUND: Inborn errors of immunity (IEI) are a group of genetic disorders that impair the immune system, with over 400 genes described so far, and hundreds more to be discovered. To facilitate the search for new genes, we need a way to prioritize among all the genes in the genome those most likely to play an important role in immunity. RESULTS: Here we identify a new list of genes by linking known IEI genes to new ones by using open-source databases of protein-protein interactions, post-translational modifications, and transcriptional regulation. We analyze this new set of 2,530 IEI-related genes for their tolerance of genetic variation and by their expression levels in various immune cell types. CONCLUSIONS: By merging genes derived from protein interactions of known IEI genes with transcriptional data, we offer a new list of candidate genes that may play a role in as-yet undiscovered IEIs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-07909-3. BioMed Central 2021-08-15 /pmc/articles/PMC8364696/ /pubmed/34391382 http://dx.doi.org/10.1186/s12864-021-07909-3 Text en © The Author(s) 2021, corrected publication 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 Khan, Humza A. Butte, Manish J. Expanding the potential genes of inborn errors of immunity through protein interactions |
title | Expanding the potential genes of inborn errors of immunity through protein interactions |
title_full | Expanding the potential genes of inborn errors of immunity through protein interactions |
title_fullStr | Expanding the potential genes of inborn errors of immunity through protein interactions |
title_full_unstemmed | Expanding the potential genes of inborn errors of immunity through protein interactions |
title_short | Expanding the potential genes of inborn errors of immunity through protein interactions |
title_sort | expanding the potential genes of inborn errors of immunity through protein interactions |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8364696/ https://www.ncbi.nlm.nih.gov/pubmed/34391382 http://dx.doi.org/10.1186/s12864-021-07909-3 |
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