Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/a51ed5c656354529b724340b9d7c7580
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https://doaj.org/article/a51ed5c656354529b724340b9d7c7580

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