Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia
Acheiropodia is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development, but how these deletions lead to this phenotype is unknown. Here the authors use whole-genome sequencing, ChIP-seq, 4C-seq and DNA FISH to show that alterations in CT...
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2021
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oai:doaj.org-article:a51ed5c656354529b724340b9d7c75802021-12-02T14:30:27ZDeletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia10.1038/s41467-021-22470-z2041-1723https://doaj.org/article/a51ed5c656354529b724340b9d7c75802021-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22470-zhttps://doaj.org/toc/2041-1723Acheiropodia is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development, but how these deletions lead to this phenotype is unknown. Here the authors use whole-genome sequencing, ChIP-seq, 4C-seq and DNA FISH to show that alterations in CTCF motifs are responsible via altered enhancer–promoter interactions.Aki UshikiYichi ZhangChenling XiongJingjing ZhaoIlias Georgakopoulos-SoaresLauren KaneKirsty JamiesonMichael J. BamshadDeborah A. NickersonUniversity of Washington Center for Mendelian GenomicsYin ShenLaura A. LetticeElizabeth Lemos Silveira-LucasFlorence PetitNadav AhituvNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021) |
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Science Q |
| spellingShingle |
Science Q Aki Ushiki Yichi Zhang Chenling Xiong Jingjing Zhao Ilias Georgakopoulos-Soares Lauren Kane Kirsty Jamieson Michael J. Bamshad Deborah A. Nickerson University of Washington Center for Mendelian Genomics Yin Shen Laura A. Lettice Elizabeth Lemos Silveira-Lucas Florence Petit Nadav Ahituv Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| description |
Acheiropodia is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development, but how these deletions lead to this phenotype is unknown. Here the authors use whole-genome sequencing, ChIP-seq, 4C-seq and DNA FISH to show that alterations in CTCF motifs are responsible via altered enhancer–promoter interactions. |
| format |
article |
| author |
Aki Ushiki Yichi Zhang Chenling Xiong Jingjing Zhao Ilias Georgakopoulos-Soares Lauren Kane Kirsty Jamieson Michael J. Bamshad Deborah A. Nickerson University of Washington Center for Mendelian Genomics Yin Shen Laura A. Lettice Elizabeth Lemos Silveira-Lucas Florence Petit Nadav Ahituv |
| author_facet |
Aki Ushiki Yichi Zhang Chenling Xiong Jingjing Zhao Ilias Georgakopoulos-Soares Lauren Kane Kirsty Jamieson Michael J. Bamshad Deborah A. Nickerson University of Washington Center for Mendelian Genomics Yin Shen Laura A. Lettice Elizabeth Lemos Silveira-Lucas Florence Petit Nadav Ahituv |
| author_sort |
Aki Ushiki |
| title |
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| title_short |
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| title_full |
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| title_fullStr |
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| title_full_unstemmed |
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia |
| title_sort |
deletion of ctcf sites in the shh locus alters enhancer–promoter interactions and leads to acheiropodia |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/a51ed5c656354529b724340b9d7c7580 |
| work_keys_str_mv |
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1718391210325835776 |