Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes
Abstract Background L1 retrotransposons inserted within genes in the human genome show a strong bias against sense orientation with respect to the gene. One suggested explanation for this observation was the possibility that L1 inserted randomly, but that there was negative selection against sense-o...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-12-01
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| Series: | Mobile DNA |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13100-017-0100-5 |
| _version_ | 1818137682206785536 |
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| author | Geraldine Servant Vincent A. Streva Prescott L. Deininger |
| author_facet | Geraldine Servant Vincent A. Streva Prescott L. Deininger |
| author_sort | Geraldine Servant |
| collection | DOAJ |
| description | Abstract Background L1 retrotransposons inserted within genes in the human genome show a strong bias against sense orientation with respect to the gene. One suggested explanation for this observation was the possibility that L1 inserted randomly, but that there was negative selection against sense-oriented insertions. However, multiple studies have now found that de novo and polymorphic L1 insertions, which have little opportunity for selection to act, also show the same bias. Results Here we show that the transcription-coupled sub-pathway of nucleotide excision repair does not affect the overall rate of insertion of L1 elements, which is in contrast with the regulation by the global sub-pathway of nucleotide excision repair. The transcription-coupled subpathway does cause a strong bias against insertion in the sense orientation relative to genes. Conclusions This suggests that a major portion of the L1 orientation bias might be generated during the process of insertion through the action of transcription-coupled nucleotide excision repair. |
| first_indexed | 2024-12-11T10:00:11Z |
| format | Article |
| id | doaj.art-fa6c9e1aa4eb4636a08b0ee12c8ef668 |
| institution | Directory Open Access Journal |
| issn | 1759-8753 |
| language | English |
| last_indexed | 2024-12-11T10:00:11Z |
| publishDate | 2017-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Mobile DNA |
| spelling | doaj.art-fa6c9e1aa4eb4636a08b0ee12c8ef6682022-12-22T01:12:08ZengBMCMobile DNA1759-87532017-12-018111210.1186/s13100-017-0100-5Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genesGeraldine Servant0Vincent A. Streva1Prescott L. Deininger2Tulane University, Tulane Cancer Center and the Department of EpidemiologyTulane University, Tulane Cancer Center and the Department of EpidemiologyTulane University, Tulane Cancer Center and the Department of EpidemiologyAbstract Background L1 retrotransposons inserted within genes in the human genome show a strong bias against sense orientation with respect to the gene. One suggested explanation for this observation was the possibility that L1 inserted randomly, but that there was negative selection against sense-oriented insertions. However, multiple studies have now found that de novo and polymorphic L1 insertions, which have little opportunity for selection to act, also show the same bias. Results Here we show that the transcription-coupled sub-pathway of nucleotide excision repair does not affect the overall rate of insertion of L1 elements, which is in contrast with the regulation by the global sub-pathway of nucleotide excision repair. The transcription-coupled subpathway does cause a strong bias against insertion in the sense orientation relative to genes. Conclusions This suggests that a major portion of the L1 orientation bias might be generated during the process of insertion through the action of transcription-coupled nucleotide excision repair.http://link.springer.com/article/10.1186/s13100-017-0100-5L1 retrotransposonTranscription-coupled repairTarget-primed reverse transcriptionDNA repairMutagenesis |
| spellingShingle | Geraldine Servant Vincent A. Streva Prescott L. Deininger Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes Mobile DNA L1 retrotransposon Transcription-coupled repair Target-primed reverse transcription DNA repair Mutagenesis |
| title | Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes |
| title_full | Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes |
| title_fullStr | Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes |
| title_full_unstemmed | Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes |
| title_short | Transcription coupled repair and biased insertion of human retrotransposon L1 in transcribed genes |
| title_sort | transcription coupled repair and biased insertion of human retrotransposon l1 in transcribed genes |
| topic | L1 retrotransposon Transcription-coupled repair Target-primed reverse transcription DNA repair Mutagenesis |
| url | http://link.springer.com/article/10.1186/s13100-017-0100-5 |
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