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Boy interrupted: Y-chromosome mutations reveal precariousness of male development
Date:9/2/2013

The idea that men and women are fundamentally different from each other is widely accepted. And throughout the world, this has created distinct ideas about which social and physical characteristics are necessary in each gender to maintain healthy human development.

However, social revolutions throughout the last century have challenged traditional ideas about not only which traits are normal and necessary for survival, but also how humans acquire them. Thanks to a new study from researchers at Case Western Reserve University, science is continuing the charge.

By studying rare families in which a daughter shares the same Y chromosome as her father, Michael Weiss, MD, PhD, and his colleagues at the university's School of Medicine have determined that the pathway for male sexual development is not as consistent and robust as scientists have always assumed.

A team led by Weiss, chairman of the Department of Biochemistry, the Cowan-Blum Professor of Cancer Research, and a professor of biochemistry and medicine, has published a study in the Proceedings of the National Academy of Sciences that examines the function of the SRY gene. This gene is responsible for initiating the process that leads to male development.

"A general principle of developmental biology is that evolution favors reliability," Weiss explained. "Robust switches ensure that our genetic programs give rise to a consistent body plan to ensure that babies have one heart, two arms, ten fingers, and so forth."

Traditional viewpoints emphasize the uniformity of this process. The new research indicates that male sexual development is less stable than other genetic programs.

In fetal development, a gene located on the Y chromosome, called SRY, begins the process that leads to male development. All fetuses initially develop with female tissues, no matter what the sex will be at birth, so the master switch is responsible for initiating the t
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Contact: Amanda Petrak
amanda.petrak@case.edu
216-368-0345
Case Western Reserve University
Source:Eurekalert

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