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Refining the genomic determinants underlying escape from X-chromosome inactivation

NAR genomic and bioimformatics. 2023-05; 
Samantha Peeters, Tiffany Leung, Oriol Fornes, Rachelle A Farkas, Wyeth W Wasserman, Carolyn J Brown
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X-chromosome inactivation (XCI) epigenetically silences one X chromosome in every cell in female mammals. Although the majority of X-linked genes are silenced, in humans 20% or more are able to escape inactivation and continue to be expressed. Such escape genes are important contributors to sex differences in gene expression, and may impact the phenotypes of X aneuploidies; yet the mechanisms regulating escape from XCI are not understood. We have performed an enrichment analysis of transcription factor binding on the X chromosome, providing new evidence for enriched factors at the transcription start sites of escape genes. The top escape-enriched transcription factors were detected at the RPS4X promoter, a well... More