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JCI table of contents: Dec. 22, 2010
Date:12/22/2010

EDITOR'S PICK: What sex are you?

Sex in mammals is genetically determined. In humans, females have two X chromosomes, while males have one X and one Y chromosome. However, some individuals are born with male genitalia despite having two X chromosomes, a condition known as XX male sex reversal. A team of researchers, led by Paul Thomas, University of Adelaide, Australia, has now determined that overexpression of the Sox3 gene in mice causes frequent XX male sex reversal. The clinical relevance of this was highlighted by the discovery of genomic rearrangements in the regulatory region of the human SOX3 gene in three patients with XX male sex reversal. The authors therefore conclude that SOX3 genomic rearrangements are likely to be a significant cause of XX male sex reversal.

TITLE: Identification of SOX3 as an XX male sex reversal gene in mice and humans

AUTHOR CONTACT:
Paul Thomas
University of Adelaide, North Terrace, Adelaide, South Australia, Australia.
Phone: 61.8.8303.7047; Fax: 61.8.8303.4362; E-mail: paul.thomas@adelaide.edu.au.

View this article at: http://www.jci.org/articles/view/42580?key=d5c128baa67b2a0f7661


EDITOR'S PICK: KISSing a theory goodbye in the link between puberty and nutrition status

The timing of the onset of puberty is linked to levels of nutrition: later onset is associated with malnutrition, while earlier onset is linked to childhood obesity. A team of researchers, led by Carol Elias, at the University of Texas Southwestern Medical Center, Dallas, has now generated data in mice that run counter to current thinking about the molecular pathway by which nutrition status affects the onset of puberty. Further, the team defines a new regulatory pathway for the process, which, if confirmed in humans, could potentially lead to
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Source:Eurekalert

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