Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5’ boundary region

We report three novel deletions involving the Multispecies Conserved Sequences (MCS) R2, also known as the Major Regulative Element (MRE), in patients showing the α-thalassemia phenotype. The three new rearrangements showed peculiar positions of the breakpoints. 1) The (αα)ES is a telomeric 110 kb d...

Descripción completa

Detalles Bibliográficos
Autores principales: Capasso, Serena, Cardiero, Giovanna, Musollino, Gennaro, Prezioso, Romeo, Testa, Rosario, Dembech, Sabrina, Piluso, Giulio, Nigro, Vincenzo, Digilio, F. Anna, Lacerra, Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202303/
https://www.ncbi.nlm.nih.gov/pubmed/37216374
http://dx.doi.org/10.1371/journal.pgen.1010727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202303/
https://www.ncbi.nlm.nih.gov/pubmed/37216374
http://dx.doi.org/10.1371/journal.pgen.1010727

Ejemplares similares