The Surprising Evolution of Sex Determination

A detailed analysis of sex chromosomes finds unexpected evolution of functional Y chromosome genes across species.

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WIKIMEDIA, ARCHAEOGENETICSA core set of genes on the Y chromosome has been retained through much of animal evolution, not just for male sexual development, but also as regulatory genes in a wide array of tissues, according to two studies published today (April 23) in Nature. Previous research has shown that the Y chromosome has undergone dramatic gene loss, retaining only 3 percent of its ancestral genes, compared to 98 percent for the X chromosome. Two independent teams—one led by David Page at MIT, the other by Henrik Kaessmann and Diego Cortez at the University of Lausanne in Switzerland—studied a wide variety of animals to demonstrate that the Y chromosome eventually developed a stable set of genes.

The papers provide “a tremendous rational for why these genes have been retained,” said geneticist Carlos Bustamante of Stanford Medical School, who was not involved in the work. “This massacre of genes, as it were, is really tempered by the genes that have been retained, [which] have been retained for a very specific reason. It’s not a random subset of genes.”

Page’s team studied the Y chromosome in eight animals: four primates (human, chimpanzee, rhesus macaque, and marmoset), three other mammals (rat, mouse, and bull) and a marsupial, a South American opossum. The researchers recently produced new, high-quality sequences for some of these Y chromosomes, but have been working on many of them for more than a decade.

The Y chromosome is often ignored when ...

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