Involvement of retroelements in the autoimmune response in humans
Retroelements are mobile genomic components requiring an RNA intermediate which is reverse-transcribed into complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotransposons and endogenous retroviruses. These elements are categorized according to pr...
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| Format: | Article |
| Language: | English |
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Open Exploration Publishing Inc.
2022-06-01
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| Series: | Exploration of Medicine |
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| Online Access: | https://www.explorationpub.com/Journals/em/Article/100192 |
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| author | Sezer Okay |
| author_facet | Sezer Okay |
| author_sort | Sezer Okay |
| collection | DOAJ |
| description | Retroelements are mobile genomic components requiring an RNA intermediate which is reverse-transcribed into complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotransposons and endogenous retroviruses. These elements are categorized according to presence or absence of long terminal repeats, LTRs or non-LTRs, as well as autonomous and non-autonomous according to involvement of reverse transcriptase. The retroelements have been accumulated in mammalian genomes over all evolutionary times through vertical transmission, and many of them were inactivated through accumulation of mutations. However, the retroelements entered into genome within the last 200,000 years are mostly functional. Some of the active retroelements are associated with varying autoimmune diseases because anti-retroelement antibodies might cross-react with other proteins in the human body. For instance, autoimmunity and inflammation could be stimulated by increased expression of long interspersed element 1 (LINE-1 or L1) or decreased L1 degradation. Different regulation of L1 expression might be related to the genetic and sex-related variations or environmental factors. Activation of retroelements is also controlled by epigenetic silencing mechanisms such as histone modification. Elevated levels of L1 retroelements could trigger the production of type I interferon, a crucial innate defense mechanism in mammals against viruses, and systemic autoimmune response is induced. Loss-of-function in some deoxyribonucleases (DNases) such as three prime repair exonuclease 1 that degrades reverse-transcribed DNA is also related to autoimmune diseases. Additionally, human endogenous retroviruses also play a role in autoimmune diseases. Involvement of retroelements in autoimmune disorders is exemplified with three diseases, i.e. systemic lupus erythematosus, Aicardi–Goutières syndrome, and multiple sclerosis. |
| first_indexed | 2024-04-13T19:46:58Z |
| format | Article |
| id | doaj.art-238525ec36914537b58353c7b0c92158 |
| institution | Directory Open Access Journal |
| issn | 2692-3106 |
| language | English |
| last_indexed | 2024-04-13T19:46:58Z |
| publishDate | 2022-06-01 |
| publisher | Open Exploration Publishing Inc. |
| record_format | Article |
| series | Exploration of Medicine |
| spelling | doaj.art-238525ec36914537b58353c7b0c921582022-12-22T02:32:42ZengOpen Exploration Publishing Inc.Exploration of Medicine2692-31062022-06-013328028810.37349/emed.2022.00092Involvement of retroelements in the autoimmune response in humansSezer Okay0https://orcid.org/0000-0003-0355-6672Department of Vaccine Technology, Vaccine Institute, Hacettepe University, 06210 Ankara, TurkeyRetroelements are mobile genomic components requiring an RNA intermediate which is reverse-transcribed into complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotransposons and endogenous retroviruses. These elements are categorized according to presence or absence of long terminal repeats, LTRs or non-LTRs, as well as autonomous and non-autonomous according to involvement of reverse transcriptase. The retroelements have been accumulated in mammalian genomes over all evolutionary times through vertical transmission, and many of them were inactivated through accumulation of mutations. However, the retroelements entered into genome within the last 200,000 years are mostly functional. Some of the active retroelements are associated with varying autoimmune diseases because anti-retroelement antibodies might cross-react with other proteins in the human body. For instance, autoimmunity and inflammation could be stimulated by increased expression of long interspersed element 1 (LINE-1 or L1) or decreased L1 degradation. Different regulation of L1 expression might be related to the genetic and sex-related variations or environmental factors. Activation of retroelements is also controlled by epigenetic silencing mechanisms such as histone modification. Elevated levels of L1 retroelements could trigger the production of type I interferon, a crucial innate defense mechanism in mammals against viruses, and systemic autoimmune response is induced. Loss-of-function in some deoxyribonucleases (DNases) such as three prime repair exonuclease 1 that degrades reverse-transcribed DNA is also related to autoimmune diseases. Additionally, human endogenous retroviruses also play a role in autoimmune diseases. Involvement of retroelements in autoimmune disorders is exemplified with three diseases, i.e. systemic lupus erythematosus, Aicardi–Goutières syndrome, and multiple sclerosis.https://www.explorationpub.com/Journals/em/Article/100192aicardi–goutières syndromeendogenous retrovirusmultiple sclerosisretrotransposonssystemic lupus erythematosustype i interferon |
| spellingShingle | Sezer Okay Involvement of retroelements in the autoimmune response in humans Exploration of Medicine aicardi–goutières syndrome endogenous retrovirus multiple sclerosis retrotransposons systemic lupus erythematosus type i interferon |
| title | Involvement of retroelements in the autoimmune response in humans |
| title_full | Involvement of retroelements in the autoimmune response in humans |
| title_fullStr | Involvement of retroelements in the autoimmune response in humans |
| title_full_unstemmed | Involvement of retroelements in the autoimmune response in humans |
| title_short | Involvement of retroelements in the autoimmune response in humans |
| title_sort | involvement of retroelements in the autoimmune response in humans |
| topic | aicardi–goutières syndrome endogenous retrovirus multiple sclerosis retrotransposons systemic lupus erythematosus type i interferon |
| url | https://www.explorationpub.com/Journals/em/Article/100192 |
| work_keys_str_mv | AT sezerokay involvementofretroelementsintheautoimmuneresponseinhumans |