Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines

Traditionally, Cornelia de Lange Syndrome (CdLS) is considered a cohesinopathy caused by constitutive mutations in cohesin complex genes. Cohesin is a major regulator of chromatin architecture, including the formation of chromatin loops at the imprinted IGF2/H19 domain. We used 3C analysis on lympho...

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Detalles Bibliográficos
Autores principales: Pileggi, Silvana, La Vecchia, Marta, Colombo, Elisa Adele, Fontana, Laura, Colapietro, Patrizia, Rovina, Davide, Morotti, Annamaria, Tabano, Silvia, Porta, Giovanni, Alcalay, Myriam, Gervasini, Cristina, Miozzo, Monica, Sirchia, Silvia Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615450/
https://www.ncbi.nlm.nih.gov/pubmed/34827619
http://dx.doi.org/10.3390/biom11111622

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615450/
https://www.ncbi.nlm.nih.gov/pubmed/34827619
http://dx.doi.org/10.3390/biom11111622

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