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Oligogenic Origin of Differences of Sex Development in Humans

1
Growth and Development Research Group, Vall d’Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, 08035 Catalonia, Spain
2
Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics and Department of BioMedical Research, Bern University Hospital and University of Bern, CH-3010 Bern, Switzerland
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(5), 1809; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21051809
Received: 14 January 2020 / Revised: 3 March 2020 / Accepted: 4 March 2020 / Published: 6 March 2020
(This article belongs to the Special Issue Molecular Aspects of Sex Development in Mammals: New Insight)
Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the past years in two cohorts of patients: 46,XY DSD patients carriers of NR5A1 variants and 46,XY DSD and 46,XX DSD with MAMLD1 variants. In both cohorts, our results suggest that the broad phenotypes may be explained by oligogenic origin, in which multiple hits may contribute to a DSD phenotype, unique to each individual. A search for an underlying network of the identified genes also revealed that a considerable number of these genes showed interactions, suggesting that genetic variations in these genes may affect sex development in concert. View Full-Text
Keywords: differences of sex development; DSD; oligogenicity; oligogenic disease; 46,XY DSD; 46,XX DSD; hypospadias; high throughput sequencing techniques; HTS differences of sex development; DSD; oligogenicity; oligogenic disease; 46,XY DSD; 46,XX DSD; hypospadias; high throughput sequencing techniques; HTS
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MDPI and ACS Style

Camats, N.; Flück, C.E.; Audí, L. Oligogenic Origin of Differences of Sex Development in Humans. Int. J. Mol. Sci. 2020, 21, 1809. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21051809

AMA Style

Camats N, Flück CE, Audí L. Oligogenic Origin of Differences of Sex Development in Humans. International Journal of Molecular Sciences. 2020; 21(5):1809. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21051809

Chicago/Turabian Style

Camats, Núria, Christa E. Flück, and Laura Audí. 2020. "Oligogenic Origin of Differences of Sex Development in Humans" International Journal of Molecular Sciences 21, no. 5: 1809. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21051809

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