Teen Gene

A puberty gene called "Harry Potter" has been discovered by UK and US scientists. The orphan gene codes for a cell surface receptor called GPR54, which is essential in starting the hormonal cascade that leads to the development of the breasts, gonads, secondary sexual characteristics such as facial hair, and a penchant for fast food and loud music. The findings could lead to new treatments for sex-hormone related conditions, such as abnormal puberty and hormone-dependent cancers, such as breast and prostate. It might also help control fertility.

William Colledge

Puberty is the complicated process through which sexual development takes place. It is triggered when the hypothalamus begins to secrete gonadotropin-releasing hormone. Now, William Colledge of the University of Cambridge and his colleagues at Paradigm Therapeutics UK (A University spin out company) and the Reproductive Endocrine Unit of the Massachusetts General Hospital, Boston, have studied the genetic factors that determine the onset of puberty in mice and humans.

The researchers found that gene mutations that disrupt the normal function of the GPR54 receptor block the production of some hormones from the pituitary gland. This, they discovered, results in failure to reach sexual maturity in both mice and humans.

	Stephanie Seminara

Samuel Aparicio, Paradigm's Chief Scientific Officer, explains that the role of GPR54 in the control of sex hormones was unsuspected. "Our work has shown that signalling through this receptor is required for the normal production of gonadotropins from the pituitary that occurs at puberty," he explains. "This defines a new receptor in the function of the sex hormones." Paradigm's tradition is to name the so-called orphan genes it finds using its high-throughput genetic techniques after famous, or infamous, orphaned characters, hence the magical monicker for the GPR54 gene.

The gene is not the only one involved in puberty there are likely to be many more but this one is the pilot light that ignites the fire, says Harvard Medical School researcher and team member, Stephanie Seminara.

New Engl J Med., 2003, 349, 1614-1627; http://content.nejm.org/cgi/content/short/349/17/1614