Ultra-Deep DNA Methylation Analysis of X-Linked Genes: GLA and AR as Model Genes.

ABSTRACT: Recessive X-linked disorders may occasionally evolve in clinical manifestations of variable severity also in female carriers. For some of such diseases, the frequency of the symptoms' appearance during women's life may be particularly relevant. This phenomenon has been largely attributed to the potential skewness of the X-inactivation process leading to variable phenotypes. Nonetheless, in many cases, no correlation with X-inactivation unbalance was demonstrated. However, methods for analyzing skewness have been mainly limited to Human Androgen Receptor methylation analysis (HUMARA). Recently, the X-inactivation process has been largely revisited, highlighting the heterogeneity existing among loci in the epigenetic state within inactive and, possibly, active X-chromosomes. We reasoned that

SUBMITTER: De Riso G 

PROVIDER: S-EPMC7349208 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature