X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.

ABSTRACT:

Background

X chromosome inactivation (XCI) refers to silencing of genes on one copy of the X chromosome in XX females, resulting in dosage compensation between XX females and XY males. Genes can escape this silencing, potentially leading to sex-based differences in disease.

Results

Across three primary tissue types, we determined XCI status by integrating whole-genome sequencing with bulk RNA-Seq data to assess allele-specific expression (ASE) at heterozygous SNPs. Across all genes and tissues, the average percentage of individuals showing escape was 4.7%. We show that models of full dosage compensation and no dosage compensation are strongly correlated over most parameter space. For G6PD deficiency, we illustrate that in G6PD*B/G6PD*A- heterozygotes, even if silencing is co

SUBMITTER: Shriner D 

PROVIDER: S-EPMC12751988 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature