[ASC-media] Clue to anti-male gene action

Niall Byrne niall at scienceinpublic.com.au
Mon Jul 7 03:22:22 CEST 2008

Here is the latest story from Fresh Science 2008 

Clue to anti-male gene action
5 July 2008

An extra gene can stop boys being boys Researchers at Prince Henry's
Institute in Melbourne have discovered how an extra copy of a gene halts
the process of becoming a boy. Their work may lead to earlier diagnosis
and better management of a condition known as disorder of sex
development (DSD) whereby one in 4500 babies is born with ambiguous or
incomplete genital development, making it difficult for parents and
doctors to identify whether the child should be raised as a boy or a

The gene, known as DAX1, regulates sexual development. An extra copy of
DAX1 in male babies blocks the development of the testicles entirely,
and this is responsible for some cases of DSD, says PhD candidate Louisa
Ludbrook who undertook the research.

Using cells in culture, the researchers found that increasing copies of
the gene DAX-1 could block the production of a potent male factor,
called SOX9. This factor is important in most animals with testicles.

"A common requirement for testicle development, conserved between
species as diverse as humans and reptiles, is an increase in production
of the gene SOX9. When SOX9 production reaches a certain level,
testicles, rather than ovaries, will develop," says A/Prof Vincent
Harley, head of the Human Molecular Genetics unit at Prince Henry's

"By knowing exactly the point when development of the testicles is
blocked, we can help parents and doctors decide on the best treatment
options for these kids, be it hormone therapy or surgery,"
says Louisa.

"And studying these kinds of conditions also helps us understand the
broad sweep of human sexual development," says Louisa.

The discovery was presented at The World Congress on Hypospadias and
Disorders of Sex Development held recently in Rome.

Louisa received a Monash University postgraduate travel award to study
DAX1 in mice at the UK National Institute of Medical Research, London,
in the laboratory of Dr Robin Lovell-Badge, a
leading expert in the field. 

Louisa Ludbrook is one of 16 early-career scientists chosen for Fresh
Science, a national program sponsored by the Federal and Victorian
governments. She is presenting her research to the public
for the first time. 

Media contacts: Louisa Ludbrook on 0403 197 792,
Louisa.Ludbrook at princehenrys.org; Niall Byrne on 0417 131 977 or
niall at freshscience.org, and Ian Muchamore on 0415 551 705. Photos and
background at www.freshscience.org 


Niall Byrne

Science in Public


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phone: +613 9398 1416
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mobile: +61 417 131 977

niall at scienceinpublic.com.au <mailto:sniall at scienceinpublic.com.au> 

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