What sex are you?

December 22, 2010

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

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

JCI Journals

Related Chromosomes Articles from Brightsurf:

Cancer's dangerous renovations to our chromosomes revealed
Cancer remodels the architecture of our chromosomes so the disease can take hold and spread, new research reveals.

Y chromosomes of Neandertals and Denisovans now sequenced
An international research team led by Martin Petr and Janet Kelso of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, has determined Y chromosome sequences of three Neandertals and two Denisovans.

Female chromosomes offer resilience to Alzheimer's
Women live longer than men with Alzheimer's because their sex chromosomes give them genetic protection from the ravages of the disease.

New protein complex gets chromosomes sorted
Researchers from the University of Tsukuba have identified a novel protein complex that regulates Aurora B localization to ensure that chromosomes are correctly separated during cell division.

Breaking up is hard to do (especially for sex chromosomes)
A team of scientists at the Sloan Kettering Institute has discovered how the X and Y chromosomes find one another, break, and recombine during meiosis even though they have little in common.

Exchange of arms between chromosomes using molecular scissors
The CRISPR/Cas molecular scissors work like a fine surgical instrument and can be used to modify genetic information in plants.

How small chromosomes compete with big ones for a cell's attention
Scientists at the Sloan Kettering Institute have solved the puzzle of how small chromosomes ensure that they aren't skipped over during meiosis, the process that makes sperm and egg.

GPS for chromosomes: Reorganization of the genome during development
The spatial arrangement of genetic material within the cell nucleus plays an important role in the development of an organism.

Extra chromosomes in cancers can be good or bad
Extra copies of chromosomes are typical in cancerous tumor cells, but researchers taking a closer look find that some extra copies promote cancer growth while others actually inhibit cancer metastasis.

X marks the spot: recombination in structurally distinct chromosomes
A recent study from the laboratory of Stowers Investigator Scott Hawley, PhD, has revealed more details about how the synaptonemal complex performs its job, including some surprising subtleties in function.

Read More: Chromosomes News and Chromosomes Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.