Intragenic L1 Insertion: One Possibility of Brain Disorder
Long interspersed nuclear element 1 (LINE1, L1) is a retrotransposon comprising ~17% of the human genome. A subset of L1s maintains the potential to mobilize and alter the genomic landscape, consequently contributing to the change in genome integrity and gene expression. L1 retrotransposition occurs...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-09-01
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| Series: | Life |
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| Online Access: | https://www.mdpi.com/2075-1729/12/9/1425 |
| _version_ | 1797485670547062784 |
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| author | Ji-Hoon Son Hyunsu Do Jinju Han |
| author_facet | Ji-Hoon Son Hyunsu Do Jinju Han |
| author_sort | Ji-Hoon Son |
| collection | DOAJ |
| description | Long interspersed nuclear element 1 (LINE1, L1) is a retrotransposon comprising ~17% of the human genome. A subset of L1s maintains the potential to mobilize and alter the genomic landscape, consequently contributing to the change in genome integrity and gene expression. L1 retrotransposition occurs in the human brain regardless of disease status. However, in the brain of patients with various brain diseases, the expression level and copy number of L1 are significantly increased. In this review, we briefly introduce the methodologies applied to measure L1 mobility and identify genomic loci where new insertion of L1 occurs in the brain. Then, we present a list of genes disrupted by L1 transposition in the genome of patients with brain disorders. Finally, we discuss the association between genes disrupted by L1 and relative brain disorders. |
| first_indexed | 2024-03-09T23:22:10Z |
| format | Article |
| id | doaj.art-2527a7fa322d45cfb3a839701c863196 |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-09T23:22:10Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-2527a7fa322d45cfb3a839701c8631962023-11-23T17:23:57ZengMDPI AGLife2075-17292022-09-01129142510.3390/life12091425Intragenic L1 Insertion: One Possibility of Brain DisorderJi-Hoon Son0Hyunsu Do1Jinju Han2Graduate School of Medical Science and Engineering, Korea Advanced Institute for Science and Technology (KAIST), Daejeon 34141, KoreaGraduate School of Medical Science and Engineering, Korea Advanced Institute for Science and Technology (KAIST), Daejeon 34141, KoreaGraduate School of Medical Science and Engineering, Korea Advanced Institute for Science and Technology (KAIST), Daejeon 34141, KoreaLong interspersed nuclear element 1 (LINE1, L1) is a retrotransposon comprising ~17% of the human genome. A subset of L1s maintains the potential to mobilize and alter the genomic landscape, consequently contributing to the change in genome integrity and gene expression. L1 retrotransposition occurs in the human brain regardless of disease status. However, in the brain of patients with various brain diseases, the expression level and copy number of L1 are significantly increased. In this review, we briefly introduce the methodologies applied to measure L1 mobility and identify genomic loci where new insertion of L1 occurs in the brain. Then, we present a list of genes disrupted by L1 transposition in the genome of patients with brain disorders. Finally, we discuss the association between genes disrupted by L1 and relative brain disorders.https://www.mdpi.com/2075-1729/12/9/1425LINE1 (L1)retrotransposonbrain disorder |
| spellingShingle | Ji-Hoon Son Hyunsu Do Jinju Han Intragenic L1 Insertion: One Possibility of Brain Disorder Life LINE1 (L1) retrotransposon brain disorder |
| title | Intragenic L1 Insertion: One Possibility of Brain Disorder |
| title_full | Intragenic L1 Insertion: One Possibility of Brain Disorder |
| title_fullStr | Intragenic L1 Insertion: One Possibility of Brain Disorder |
| title_full_unstemmed | Intragenic L1 Insertion: One Possibility of Brain Disorder |
| title_short | Intragenic L1 Insertion: One Possibility of Brain Disorder |
| title_sort | intragenic l1 insertion one possibility of brain disorder |
| topic | LINE1 (L1) retrotransposon brain disorder |
| url | https://www.mdpi.com/2075-1729/12/9/1425 |
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