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Mammalian sex determination—insights from humans and mice

Authors
  • Eggers, Stefanie1
  • Sinclair, Andrew1
  • 1 The University of Melbourne, Murdoch Children’s Research Institute, Royal Children’s Hospital and Department of Paediatrics, Melbourne, VIC, Australia , Melbourne (Australia)
Type
Published Article
Journal
Chromosome Research
Publisher
Springer-Verlag
Publication Date
Jan 31, 2012
Volume
20
Issue
1
Pages
215–238
Identifiers
DOI: 10.1007/s10577-012-9274-3
Source
Springer Nature
Keywords
License
Green

Abstract

Disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad development have been identified by analysis of DSD patients. However, the use of knockout and transgenic mouse strains have contributed enormously to the study of gonad gene function and interactions within the development network. Although the genetic basis of mammalian sex determination and differentiation has advanced considerably in recent years, a majority of 46,XY gonadal dysgenesis patients still cannot be provided with an accurate diagnosis. Some of these unexplained DSD cases may be due to mutations in novel DSD genes or genomic rearrangements affecting regulatory regions that lead to atypical gene expression. Here, we review our current knowledge of mammalian sex determination drawing on insights from human DSD patients and mouse models.

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