Gene Found that Signals Puberty

In the absence of a functioning copy of this gene, GPR54, neither humans nor mice can normally enter puberty. The findings were reported in the October 23, 2003, issue of The New England Journal of Medicine.

The gene, located on an autosomal chromosome, also appears to be necessary for normal reproductive functioning in humans. Puberty begins when gonadotropin releasing hormone (GnRH) is secreted from the hypothalamus. People who fail to reach puberty because of inherited or spontaneous genetic mutations are infertile. The GPR54 gene contains the information needed to make a receptor. The researchers believe the molecule metastatin binds to this receptor, but they do not know what effect the molecule may have on cells.

The US team included scientists from Massachusetts General Hospital, Brigham and Women's Hospital, and Harvard Medical School (Boston, MA, USA) who collaborated with a researcher at Kuwait University (Safa, Kuwait). The British team included researchers from Pardigm Therapeutics Ltd. and Cambridge University (Cambridge, UK).

"Through some careful detective work, the US researchers pinpointed the gene that causes IHH [idiopathic hypogonadotropic hypogonadism] in this family,” said Louis De Paolo, Ph.D., project officer in the Reproductive Sciences Branch of the US National Institute of Child Health and Human Development (NICHD), which helped to fund the study. "Using the mouse model, the British researchers gained an important insight into the function of the gene.”





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