Y Chromosome is Going Nowhere, Despite What Theorists Say

Apr 24, 2014 08:13 AM EDT | Matt Mercuro

Researchers from Whitehead Institute for Biomedical Research in Cambridge, Massachusetts released a study this week stating that it is time the science world starts taking the human Y chromosome seriously.

Recent findings suggests that Y-linked genes are active all-over the body, and they may be contributing to the differences in disease severity and susceptibility found between women and men.

"This paper tells us that not only is the Y chromosome here to stay, but that we need to take it seriously, and not just in the reproductive tract," says Whitehead Institute Director David Page, whose lab conducted the research with collaborators from Washington University in St. Louis and Baylor College of Medicine, according to Whitehead Institute for Biomedical Research press release.

Page feels that the research will allow him to transition his lab to a new era in Y chromosome biology, instead of having to prove rotting Y theorists wrong.

Over the past decade, Page and his colleagues have worked hard debunking the popular argument that because the Y chromosome had lost "hundreds of its genes" over the course of approximately 300 million years of evolution, its extinction "is inevitable," according to the release.

Page recently conducted a study from his own lab that showed that the human Y chromosome retains only 19 of the more than 600 genes it once shared with "its ancestral autosomal partner, the X chromosome," according to the release.

The lab discovered after comparing the sequence of the human Y chromosome with that of the rhesus macaque and the chimpanzee, the human Y has lost only one ancestral gene over the past 25 million years.

"There are approximately a dozen genes conserved on the Y that are expressed in cells and tissue types throughout the body," Page said. "These are genes involved in decoding and interpreting the entirety of the genome. How pervasive their effects are is a question we throw open to the field, and it's one we can no longer ignore."

After proving that the human, rhesus, and chimp Y chromosomes haven't really changed, the lab set out to map the evolution of the Y chromosomes of five other mammals: the marmoset, mouse, rat, bull, and opossum.

A comparison of the ancestral portions of these chromosomes "revealed a set of broadly expressed genes," according to the release.

"Evolution is telling us these genes are really important for survival," said Winston Bellott, a research scientist in the Page lab and lead author of the Nature paper, according to the release. "They've been selected and purified over time."

Page and Bellott confirmed that the next phase of their research is to figure out what this set of Y genes is "actually doing," as they admitted it is currently not clear.

"They're similar but biologically different," says Bellott. "Yet, we have cell biologists and biochemists actively studying cells without any idea whether the cells are XX or XY. This is so fundamental to biology and biomedicine, and yet no one's really paid much attention to it."

Research was published in the journal Nature this week.

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