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

Abstract

Here we present a general mechanism how deletions, duplications or inversions at the <i>NR0B1</i> locus can lead to partial or complete GD by disrupting the cognate TAD in the vicinity of <i>NR0B1</i>. 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.