Sarah Hoelzl

2 weeks ago | nature.com | Sarah Hoelzl |Tim Hasenbein |Stefan Engelhardt

AbstractDecades ago, evidence of age-related reactivation of a single gene on the female inactive X chromosome was observed in mice. While stable silencing of the Barr body is crucial for balancing gene dosage between sexes, it remains unclear whether silencing is maintained during aging. Here we used allele-specific multi-omics approaches to capture a comprehensive catalog of genes escaping X chromosome inactivation throughout mouse development and aging.

2 months ago | biorxiv.org | Tim Hasenbein |Sarah Hoelzl |Stefan Engelhardt |Daniel Andergassen

AbstractA large proportion of disease variants is found in non-coding RNAs (ncRNAs), gene loci that have been identified as key regulatory elements. However, for most ncRNAs, their targets are unknown, hindering our ability to understand complex diseases. Here, we found that allele-specific ncRNAs were enriched nearby allelic protein-coding genes (pcGenes), suggesting that the allele-specific information could be used to predict cis-acting ncRNA-targets.

Dec 4, 2024 | nature.com | Tim Hasenbein |Sarah Hoelzl |Zachary Smith |Chiara Gerhardinger |Oana Amarie |Lore Becker | +9 more

AbstractThe lncRNA Crossfirre was identified as an imprinted X-linked gene, and is transcribed antisense to the trans-acting lncRNA Firre. The Firre locus forms an inactive-X-specific interaction with Dxz4, both loci providing the platform for the largest conserved chromatin structures. Here, we characterize the epigenetic profile of these loci, revealing them as the most female-specific accessible regions genome-wide.