Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis

Conclusion
Here we present a general mechanism how deletions, duplications or inversions at the NR0B1 locus can lead to partial or complete GD by disrupting the cognate TAD in the vicinity of NR0B1. This model not only allows better diagnosis of GD with copy number variations (CNVs) at Xp21.2, but also gives deeper insight on how spatiotemporal activation of developmental genes can be disrupted by reorganised TADs causing impairment of gonadal development.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Meinel, J. A., Yumiceba, V., Künstner, A., Schultz, K., Kruse, N., Kaiser, F. J., Holterhus, P.-M., Claviez, A., Hiort, O., Busch, H., Spielmann, M., Werner, R. Tags: Open access Chromosomal rearrangements Source Type: research