Literature DB >> 26846580

Molecular mechanisms associated with 46,XX disorders of sex development.

Ingrid Knarston1, Katie Ayers2, Andrew Sinclair1.   

Abstract

In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development.
© 2016 Authors; published by Portland Press Limited.

Entities:  

Keywords:  46; XX disorders of ovarian development; gonad; ovary; sex determination; sex differentiation; testis

Mesh：

Year:  2016        PMID： 26846580     DOI： 10.1042/CS20150579

Source DB:  PubMed          Journal:  Clin Sci (Lond)        ISSN： 0143-5221            Impact factor:   6.124


  5 in total

Review 1.  Deciphering Sex-Specific Differentiation of Human Fetal Gonads: Insight From Experimental Models.

Authors:  Malene Lundgaard Riis; Anne Jørgensen
Journal:  Front Cell Dev Biol       Date:  2022-06-02

2.  Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Authors:  Leyla Akin; Karine Rizzoti; Louise C Gregory; Beatriz Corredor; Polona Le Quesne Stabej; Hywel Williams; Federica Buonocore; Stephane Mouilleron; Valeria Capra; Sinead M McGlacken-Byrne; Gabriel Á Martos-Moreno; Dimitar N Azmanov; Mustafa Kendirci; Selim Kurtoglu; Jenifer P Suntharalingham; Christophe Galichet; Stefano Gustincich; Velibor Tasic; John C Achermann; Andrea Accogli; Aleksandra Filipovska; Anatoly Tuilpakov; Mohamad Maghnie; Zoran Gucev; Zeynep Burcin Gonen; Luis A Pérez-Jurado; Iain Robinson; Robin Lovell-Badge; Jesús Argente; Mehul T Dattani
Journal:  Genet Med       Date:  2021-11-30       Impact factor: 8.864

Review 3.  At the Crossroads of Fate-Somatic Cell Lineage Specification in the Fetal Gonad.

Authors:  Emmi Rotgers; Anne Jørgensen; Humphrey Hung-Chang Yao
Journal:  Endocr Rev       Date:  2018-10-01       Impact factor: 19.871

4.  XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

Authors:  Vicki N Meyers-Wallen; Adam R Boyko; Charles G Danko; Jennifer K Grenier; Jason G Mezey; Jessica J Hayward; Laura M Shannon; Chuan Gao; Afrah Shafquat; Edward J Rice; Shashikant Pujar; Stefanie Eggers; Thomas Ohnesorg; Andrew H Sinclair
Journal:  PLoS One       Date:  2017-10-20       Impact factor: 3.240

5.  NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Authors:  Ingrid M Knarston; Gorjana Robevska; Jocelyn A van den Bergen; Stefanie Eggers; Brittany Croft; Jason Yates; Remko Hersmus; Leendert H J Looijenga; Fergus J Cameron; Klaus Monhike; Katie L Ayers; Andrew H Sinclair
Journal:  Hum Mutat       Date:  2018-11-30       Impact factor: 4.878
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.