Defining the 3′Epigenetic Boundary of the <i>FMR1</i> Promoter and Its Loss in Individuals with Fragile X Syndrome

Defining the 3′Epigenetic Boundary of the <i>FMR1</i> Promoter and Its Loss in Individuals with Fragile X Syndrome

This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55–199 CGGs), and X inactivation in blood and brain tissues at the 3′ boundary of the <i>FMR1</i> promoter. Blood was analyzed from 95 contr...

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Bibliographic Details
Main Authors: David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:International Journal of Molecular Sciences
Subjects:
fragile X syndrome
FMR1
epigenetic boundary
premutation
methylation intellectual disability
Online Access:https://www.mdpi.com/1422-0067/24/13/10712

Internet

https://www.mdpi.com/1422-0067/24/13/10712

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