The paper constructs a comparative regulatory atlas of gonad development using mouse and human data, identifies a conserved enhancer critical for gonadal development, and prioritizes non-coding variants in DSD patients.

medRxiv · Jul 13, 2026 · PreprintGenetic & Genomic Medicine

COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors

Lucas G. A. Ferreira, Marina M. L. Kizys, Gabriel Avelar Colozza‐Gama, Svenja Pachernegg, Gorjana Robevska, Andrew Henrik Sinclair, Katie L. Ayers, Magnus Regios Dias-da-Silva

This study shows that COUP-TFII is essential for maintaining the multipotent state of bipotential gonad cells and preventing their commitment to the testicular pathway.

Cell & Bioscience · Jan 4, 2024Peer-reviewedDevelopmental Biology

Functional genomics analysis identifies impairment of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.

Ella Thomson, Minh Tran, Gorjana Robevska, Katie L. Ayers, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash‐Margita, Miranda Margetts, Alison Hensley, Quan Hoang Nguyen, Andrew Henrik Sinclair, Peter A. Koopman, Emanuele Pelosi

The paper identifies HNF1B dysfunction as a cause of Mayer-Rokitansky-Küster-Hauser syndrome using genomic analysis and mouse models.

bioRxiv · Apr 26, 2022 · PreprintDevelopmental Biology