Ontology highlight
ABSTRACT:
SUBMITTER: Eozenou C
PROVIDER: S-EPMC7306989 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Eozenou Caroline C Gonen Nitzan N Touzon Maria Sol MS Jorgensen Anne A Yatsenko Svetlana A SA Fusee Leila L Kamel Alaa K AK Gellen Balazs B Guercio Gabriela G Singh Priti P Witchel Selma S Berman Andrea J AJ Mainpal Rana R Totonchi Mehdi M Mohseni Meybodi Anahita A Askari Masomeh M Merel-Chali Tiphanie T Bignon-Topalovic Joelle J Migale Roberta R Costanzo Mariana M Marino Roxana R Ramirez Pablo P Perez Garrido Natalia N Berensztein Esperanza E Mekkawy Mona K MK Schimenti John C JC Bertalan Rita R Mazen Inas I McElreavey Ken K Belgorosky Alicia A Lovell-Badge Robin R Rajkovic Aleksandar A Bashamboo Anu A
Proceedings of the National Academy of Sciences of the United States of America 20200603 24
Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining gene <i>SRY</i> is present in many cases, the etiology is unknown in most <i>SRY</i>-negative patients. We performed exome sequencing on 78 individuals with 46,X ...[more]