Allele-specific gene expression is widespread across the genome and biological processes.
Allelic specific gene expression (ASGE) appears to be an important factor in human phenotypic variability and as a consequence, for the development of complex traits and diseases. In order to study ASGE across the human genome, we have performed a study in which genotyping was coupled with an analys...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2009-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC2613524?pdf=render |
| _version_ | 1811196990269161472 |
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| author | Ricardo Palacios Elodie Gazave Joaquín Goñi Gabriel Piedrafita Olga Fernando Arcadi Navarro Pablo Villoslada |
| author_facet | Ricardo Palacios Elodie Gazave Joaquín Goñi Gabriel Piedrafita Olga Fernando Arcadi Navarro Pablo Villoslada |
| author_sort | Ricardo Palacios |
| collection | DOAJ |
| description | Allelic specific gene expression (ASGE) appears to be an important factor in human phenotypic variability and as a consequence, for the development of complex traits and diseases. In order to study ASGE across the human genome, we have performed a study in which genotyping was coupled with an analysis of ASGE by screening 11,500 SNPs using the Mapping 10 K Array to identify differential allelic expression. We found that from the 5,133 SNPs that were suitable for analysis (heterozygous in our sample and expressed in peripheral blood mononuclear cells), 2,934 (57%) SNPs had differential allelic expression. Such SNPs were equally distributed along human chromosomes and biological processes. We validated the presence or absence of ASGE in 18 out 20 SNPs (90%) randomly selected by real time PCR in 48 human subjects. In addition, we observed that SNPs close to -but not included in- segmental duplications had increased levels of ASGE. Finally, we found that transcripts of unknown function or non-coding RNAs, also display ASGE: from a total of 2,308 intronic SNPs, 1510 (65%) SNPs underwent differential allelic expression. In summary, ASGE is a widespread mechanism in the human genome whose regulation seems to be far more complex than expected. |
| first_indexed | 2024-04-12T01:07:43Z |
| format | Article |
| id | doaj.art-47f08961a09c49feba16ca394e994876 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T01:07:43Z |
| publishDate | 2009-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-47f08961a09c49feba16ca394e9948762022-12-22T03:54:12ZengPublic Library of Science (PLoS)PLoS ONE1932-62032009-01-0141e415010.1371/journal.pone.0004150Allele-specific gene expression is widespread across the genome and biological processes.Ricardo PalaciosElodie GazaveJoaquín GoñiGabriel PiedrafitaOlga FernandoArcadi NavarroPablo VillosladaAllelic specific gene expression (ASGE) appears to be an important factor in human phenotypic variability and as a consequence, for the development of complex traits and diseases. In order to study ASGE across the human genome, we have performed a study in which genotyping was coupled with an analysis of ASGE by screening 11,500 SNPs using the Mapping 10 K Array to identify differential allelic expression. We found that from the 5,133 SNPs that were suitable for analysis (heterozygous in our sample and expressed in peripheral blood mononuclear cells), 2,934 (57%) SNPs had differential allelic expression. Such SNPs were equally distributed along human chromosomes and biological processes. We validated the presence or absence of ASGE in 18 out 20 SNPs (90%) randomly selected by real time PCR in 48 human subjects. In addition, we observed that SNPs close to -but not included in- segmental duplications had increased levels of ASGE. Finally, we found that transcripts of unknown function or non-coding RNAs, also display ASGE: from a total of 2,308 intronic SNPs, 1510 (65%) SNPs underwent differential allelic expression. In summary, ASGE is a widespread mechanism in the human genome whose regulation seems to be far more complex than expected.http://europepmc.org/articles/PMC2613524?pdf=render |
| spellingShingle | Ricardo Palacios Elodie Gazave Joaquín Goñi Gabriel Piedrafita Olga Fernando Arcadi Navarro Pablo Villoslada Allele-specific gene expression is widespread across the genome and biological processes. PLoS ONE |
| title | Allele-specific gene expression is widespread across the genome and biological processes. |
| title_full | Allele-specific gene expression is widespread across the genome and biological processes. |
| title_fullStr | Allele-specific gene expression is widespread across the genome and biological processes. |
| title_full_unstemmed | Allele-specific gene expression is widespread across the genome and biological processes. |
| title_short | Allele-specific gene expression is widespread across the genome and biological processes. |
| title_sort | allele specific gene expression is widespread across the genome and biological processes |
| url | http://europepmc.org/articles/PMC2613524?pdf=render |
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