Journal article

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CBX2-dependent transcriptional landscape: implications for human sex development and its defects

  • Sproll, Patrick Division of Endocrinology, Section of Medicine, University of Fribourg, Switzerland
  • Eid, Wassim Division of Endocrinology, Section of Medicine, University of Fribourg, Switzerland - Department of Biochemistry, Medical Research Institute, University of Alexandria, Egypt
  • Lauber-Biason, Anna Division of Endocrinology, Section of Medicine, University of Fribourg, Switzerland
    12.11.2019
Published in:
  • Scientific Reports. - 2019, vol. 9, no. 1, p. 1–14
English Sex development, a complex and indispensable process in all vertebrates, has still not been completely elucidated, although new genes involved in sex development are constantly being discovered and characterized. Chromobox Homolog 2 (CBX2) is one of these new additions and has been identified through a 46,XY girl with double heterozygous variants on CBX2.1, causing Differences of Sex Development (DSD). The mutated CBX2.1 failed to adequately regulate downstream targets important for sex development in humans, specifically steroidogenic factor 1 (NR5A1/SF1). To better place CBX2.1 in the human sex developmental cascade, we performed siRNA and CBX2.1 overexpression experiments and created a complete CRISPR/Cas9- CBX2 knockout in Sertoli-like cells. Furthermore, we deployed Next Generation Sequencing techniques, RNA-Sequencing and DamID-Sequencing, to identify new potential CBX2.1 downstream genes. The combination of these two next generation techniques enabled us to identify genes that are both bound and regulated by CBX2.1. This allowed us not only to expand our current knowledge about the influence of CBX2.1 in human sex development, but also to advance our insight in the mechanisms governing one of the most important decisions during embryonal development, the commitment to either female or male gonads.
Faculty
Faculté des sciences et de médecine
Department
Médecine 3ème année
Language
  • English
Classification
Biology
License
License undefined
Identifiers
Persistent URL
https://folia.unifr.ch/unifr/documents/308331
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