SFEIES24 Poster Presentations Reproductive Endocrinology (15 abstracts)
Mapping the anatomical and transcriptional landscape of early human fetal ovary development
Sinead McGlacken-Byrne 1 , Ignacio Del Valle 1 , Theodoros Xenakis 1 , Ian C. Simcock 2,3,4 , Jenifer P. Suntharalingham 1 , Federica Buonocore 1 , Berta Crespo 5 , Nadjeda Moreno 5 , Danielle Liptrot 5 , Paola Niola 6 , Tony Brooks 6 , Gerard Conway 7 , Mehul T. Dattani 1 , Owen J. Arthurs Arthurs 2,3,4 , Nita Solanky 5 & John Achermann 1
1Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; 2Department of Clinical Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 3Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 4NIHR Great Ormond Street Biomedical Research Centre, London, United Kingdom; 5Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 6UCL Genomics, Zayed Centre for Research, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 7Institute for Women’s Health, University College London, London, United Kingdom
Context: The complex genetic mechanisms underlying human ovary development can give rise to clinical phenotypes if disrupted, such as Primary Ovarian Insufficiency and Differences of Sex Development. In recent years, RNA sequencing (RNAseq) approaches have characterised ovary development in previously unparalleled detail; however, a challenge is synthesising and using these data to advance our understanding of clinical disease.
Methods: We combine single-nuclei RNA sequencing, bulk RNA sequencing, and micro-focus computed tomography to elucidate the anatomy and transcriptional landscape of the human fetal ovary across key developmental timepoints (Carnegie Stage 22 until 20 weeks post conception; bulk RNA-seq: n = 47 samples (19 ovaries, 20 testes, 8 control tissues); single nuclei RNA sequencing (snRNAseq): n = 2 samples, 12wpc (10,291 cells, 10X Genomics); micro-focus computed tomography (microCT): n = 6 samples; macroscopic specimen examination: n = 27 samples). Data are contextualised through a clinically-focused lens.
Results: We show the marked growth and distinct morphological changes within the fetal ovary at the critical timepoint of germ cell expansion and demonstrate that the fetal ovary becomes more transcriptomically distinct from the testis with age. We describe novel ovary developmental pathways, relating to neuroendocrine signalling, energy homeostasis, mitochondrial networks, piRNA processes, and inflammasome regulation. We define transcriptional regulators and candidate genes for meiosis within the developing ovary.
Conclusion: Together, this work advances our fundamental understanding of human ovary development and clinical ovarian insufficiency phenotypes.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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