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

Acheiropodia, congenital limb truncation, is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development. How these deletions lead to this phenotype is unknown. Using whole-genome sequencing, we fine-mapped the acheiropodia-associated region...

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Detalles Bibliográficos
Autores principales: Ushiki, Aki, Zhang, Yichi, Xiong, Chenling, Zhao, Jingjing, Georgakopoulos-Soares, Ilias, Kane, Lauren, Jamieson, Kirsty, Bamshad, Michael J., Nickerson, Deborah A., Shen, Yin, Lettice, Laura A., Silveira-Lucas, Elizabeth Lemos, Petit, Florence, Ahituv, Nadav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052326/
https://www.ncbi.nlm.nih.gov/pubmed/33863876
http://dx.doi.org/10.1038/s41467-021-22470-z

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