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research
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Authors
Ahmed
Aleksandar Rajkovic
+78 more
Andrew J Duncan
Anu Bashamboo
Barrionuevo
Bashamboo
Bashamboo
Bashamboo
Ben Khelifa
Bhagavath
Caburet
Capucine Hyon
Caroline de Malleray Pichard
Caroline Eozenou
Caroline Schluth-Bolard
Celia Ravel
Chaboissier
Christine Louis-Sylvestre
Cooper
Eduardo H Charreau
Erickson
Etienne Patin
Ewa Rajpert-De Meyts
Gonen
Guth
Harteveld
Hassan Rouba
Huang
Hughes
Inas Mazen
Jakubiczka
Jamsai
Jean-Pierre Siffroi
Joelle Bignon-Topalovic
John C Achermann
Ken McElreavey
Kristian Almstrup
Lavery
Lee
Leila Fusee
Liliana Dain
Lin
Liu
Lourenço
Luca Persani
Marie-Charlotte Dumargne
Marie-France Portnoi
Matzuk
Miguel Reyes-Mugica
Neirijnck
Nelson
Ng
Nicol
O'Bryan
Origa
Pierre Validire
Péterfy
Raffaella Rossetti
Raja Brauner
Ralf Jauch
Ray
Salmon
Sandra Chantot-Bastaraud
Sandra Rojo
Schepers
Sekido
Selma F Witchel
Skakkebaek
Smyk
Sophie Christin-Maitre
Stolt
Stuart MacGowan
Suntharalingham
Sutton
Svetlana A Yatsenko
Violeta A Chiauzzi
W H Irwin McLean
Wang
Yatsenko
Yogesh Srivastava
Publication date
1 January 2018
Publisher
'Oxford University Press (OUP)'
Doi
Cite
Abstract
© The Author(s) 2018. Published by Oxford University Press. All rights reserved. SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n=274) and two independent cohorts of women with primary ovarian insufficiency (POI; n=153 and n=104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P < 0.05) and POI (5.06%; P=4.5×10 -5 ) as compared with fertile/normospermic control populations (0.74%). The mutant proteins identified altered SOX8 biological activity as compared with the wild-type protein. These data demonstrate that SOX8 plays an important role in human reproduction and SOX8 mutations contribute to a spectrum of phenotypes including 46, XY DSD, male infertility and 46, XX POI.Link_to_subscribed_fulltex
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