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Inferring genes that escape X-Chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases.


ABSTRACT: The X Chromosome plays an important role in human development and disease. However, functional genomic and disease association studies of X genes greatly lag behind autosomal gene studies, in part owing to the unique biology of X-Chromosome inactivation (XCI). Because of XCI, most genes are only expressed from one allele. Yet, ∼30% of X genes "escape" XCI and are transcribed from both alleles, many only in a proportion of the population. Such interindividual differences are likely to be disease relevant, particularly for sex-biased disorders. To understand the functional biology for X-linked genes, we developed X-Chromosome inactivation for RNA-seq (XCIR), a novel approach to identify escape genes using bulk RNA-seq data. Our method, available as an R package, is more powerful than alterna

SUBMITTER: Sauteraud R 

PROVIDER: S-EPMC8415373 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature