A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
The role of promoters as potential insulator elements has been largely unexplored in mammals. Here the authors show that a single nucleotide variant in the α-globin locus forms a new promoter and acts as an orientation-dependent enhancer-blocking insulator element.
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Nature Portfolio
2021
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oai:doaj.org-article:0f0ac4b4b81348c696127f64ad73d2ae2021-12-02T17:44:59ZA gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker10.1038/s41467-021-23980-62041-1723https://doaj.org/article/0f0ac4b4b81348c696127f64ad73d2ae2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-23980-6https://doaj.org/toc/2041-1723The role of promoters as potential insulator elements has been largely unexplored in mammals. Here the authors show that a single nucleotide variant in the α-globin locus forms a new promoter and acts as an orientation-dependent enhancer-blocking insulator element.Yavor K. BozhilovDamien J. DownesJelena TeleniusA. Marieke OudelaarEmmanuel N. OlivierJoanne C. MountfordJim R. HughesRichard J. GibbonsDouglas R. HiggsNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-13 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Yavor K. Bozhilov Damien J. Downes Jelena Telenius A. Marieke Oudelaar Emmanuel N. Olivier Joanne C. Mountford Jim R. Hughes Richard J. Gibbons Douglas R. Higgs A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| description |
The role of promoters as potential insulator elements has been largely unexplored in mammals. Here the authors show that a single nucleotide variant in the α-globin locus forms a new promoter and acts as an orientation-dependent enhancer-blocking insulator element. |
| format |
article |
| author |
Yavor K. Bozhilov Damien J. Downes Jelena Telenius A. Marieke Oudelaar Emmanuel N. Olivier Joanne C. Mountford Jim R. Hughes Richard J. Gibbons Douglas R. Higgs |
| author_facet |
Yavor K. Bozhilov Damien J. Downes Jelena Telenius A. Marieke Oudelaar Emmanuel N. Olivier Joanne C. Mountford Jim R. Hughes Richard J. Gibbons Douglas R. Higgs |
| author_sort |
Yavor K. Bozhilov |
| title |
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| title_short |
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| title_full |
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| title_fullStr |
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| title_full_unstemmed |
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| title_sort |
gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/0f0ac4b4b81348c696127f64ad73d2ae |
| work_keys_str_mv |
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| _version_ |
1718379569765941248 |