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Publication : In vivo <i>Firre</i> and <i>Dxz4</i> deletion elucidates roles for autosomal gene regulation.

First Author  Andergassen D Year  2019
Journal  Elife Volume  8
PubMed ID  31738164 Mgi Jnum  J:282020
Mgi Id  MGI:6378671 Doi  10.7554/eLife.47214
Citation  Andergassen D, et al. (2019) In vivo Firre and Dxz4 deletion elucidates roles for autosomal gene regulation. Elife 8:e47214
abstractText  Recent evidence has determined that the conserved X chromosome mega-structures controlled by the Firre and Dxz4 loci are not required for X chromosome inactivation (XCI) in cell lines. Here, we examined the in vivo contribution of these loci by generating mice carrying a single or double deletion of Firre and Dxz4. We found that these mutants are viable, fertile and show no defect in random or imprinted XCI. However, the lack of these elements results in many dysregulated genes on autosomes in an organ-specific manner. By comparing the dysregulated genes between the single and double deletion, we identified superloop, megadomain, and Firre locus-dependent gene sets. The largest transcriptional effect was observed in all strains lacking the Firre locus, indicating that this locus is the main driver for these autosomal expression signatures. Collectively, these findings suggest that these X-linked loci are involved in autosomal gene regulation rather than XCI biology.
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