Abstract
A vesicular protein important for puberty.
Highlights
The outward signs of puberty—for example, accelerated growth and the appearance of body hair—are no less dramatic than the accompanying internal changes, which include increased release of steroid hormones from the pituitary gland and the maturation of the sexual organs
In their paper published in this month’s PLOS Biology, Brooke Tata, Lukas Huijbregts, Nicolas de Roux, and colleagues describe a new syndrome with a complex neurophysiological phenotype that includes hypogonadotropic hypogonadism, and the authors explore the genetic and molecular mechanisms that drive it
Tata et al noticed that the brothers expressed significantly less DMXL2 mRNA in blood lymphocytes than did their siblings or parents, leading the authors to hypothesize the syndrome could result from a deficiency in DMXL2 expression
Summary
The outward signs of puberty—for example, accelerated growth and the appearance of body hair—are no less dramatic than the accompanying internal changes, which include increased release of steroid hormones from the pituitary gland and the maturation of the sexual organs. This condition can stem from a variety of genetic mutations, the study of which has led to important insight into the processes that control puberty onset. In their paper published in this month’s PLOS Biology, Brooke Tata, Lukas Huijbregts, Nicolas de Roux, and colleagues describe a new syndrome with a complex neurophysiological phenotype that includes hypogonadotropic hypogonadism, and the authors explore the genetic and molecular mechanisms that drive it.
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