ESPEYB17 6. Differences/Disorders of Sex Development and Transgender Medicine Differences/Disorders of Sex Development: Basic Research (3 abstracts)
6.4. Dynamics of the transcriptional landscape during human fetal testis and ovary development
Lecluze E , Rolland AD , Filis P , Evrard B , Leverrier-Penna S , Maamar MB , Coiffec I , Lavoué V , Fowler PA , Mazaud-Guittot S , Jégou B & Chalmel F
To read the full abstract: Hum Reprod. 2020, May 15; 10.1093/humrep/deaa041. doi: https://academic.oup.com/humrep/articleabstract/35/5/1099/5837511
This study provides a comprehensive reference of the protein-coding and non-coding genome from 24 testes and 24 ovaries of human fetuses. It used an RNA sequencing approach to investigate non-coding sequences, and to identify yet unknown candidate genes for sex development. The authors describe the transcriptome of gonadal tissues of 7 developmental stages (week 6–17 post conception) and compare expression patterns between testes and ovaries (sexually dimorphic transcripts) and between developmental stages without differences between sexes (non-sexually dimorphic transcripts). Principal component analyses revealed 14 expression clusters for the sexually dimorphic transcripts and 6 clusters for the non-sexually dimorphic transcripts. Sexually dimorphic expression at early sexual development uncovered promising new transcription factors, e.g. cAMP-responsive element modulator (CREM) and GLI family zinc finger 1. The interesting findings of this study included 680 novel antisense long RNAs and 318 novel unannotated transcripts, of which they confirmed 6% at the protein level.
In the last decade, new genomic techniques have uncovered numerous candidate genes in the complex process of human fetal sex development, but focused mainly on coding RNAs. It has become clear that non-coding RNAs have important regulatory functions. This study adds comprehensive information on non-coding transcripts to the current knowledge on regulation of sex development. It will be a valuable resource for researchers and clinicians interested in the molecular processes of sex development, thereby contributing to address diagnostic challenges in persons with DSD.
Volume 17
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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