Showing posts with label Y chromosome. Show all posts
Showing posts with label Y chromosome. Show all posts

Wednesday, May 7, 2014

Sexual Similarity Studies Get Framed as a Major New Finding of Sex Differences


From Slate, looks at how two new studies that identified sex similarities between men and women got reported in the media as offering major new findings in sex differences. How does sh!t like this happen so often?

As we get deeper and deeper into the human genome and are able to identify specifics in the male and female genome, we are likely to discover some real differences that impact, physical and mental health, as well as the development of body and mind.

Yet, even now, we are also learning of the incredible similarities in males and females. The studies discussed below (here is a link to one of them, Nature) found that there are 12 important genes on the Y chromosome that are important in controlling that state of the genome and the activation of other genes.

The New York Times (as well as others) presented these findings as representing "a fundamental difference in how the cells in men’s and women’s bodies read off the information in their genomes.” However, the Nature studies clearly demonstrated the opposite:
The 12 genes residing on the Y chromosome exist to ensure sexual similarity. The genes are “dosage-sensitive,” meaning that two copies are needed for them to function properly. We’ve long known that those 12 genes exist on X chromosomes. Females have the 12 genes active on both of their X chromosomes. If males, who have just one X, didn’t have them on the Y, they would not have a sufficient dosage of those genes. Now we know they do. Just like women.
Not only does this call into question how science gets reported in the media (either ignorance or an agenda seems to play a powerful role), but it also requires readers to be very skeptical when we see headlines about sex differences in men and women.

Sarah Richardson is the author of Sex Itself: The Search for Male and Female in the Human Genome.

Y All the Hype?

A study about sexual similarity gets framed as a major new finding of sex difference.

By Sarah S. Richardson



Illustration by Natalie Matthews-Ramo

Last month two Nature studies on the Y chromosome were in the news, trumpeted as revealing “differences in men’s and women’s bodies, differences found as deep down as the cellular level.” The coverage of the studies offers an allegory for our age about the way scientific hype and a fascination with the sex binary continue to influence scientific research on sex today.

The New York Times reported that scientists had discovered 12 genes on the Y chromosome that play “high-level roles in controlling the state of the genome and the activation of other genes.” They “may represent a fundamental difference in how the cells in men’s and women’s bodies read off the information in their genomes.” The Huffington Post quoted one of the studies’ authors as saying that these “special” genes “may play a large role in differences between males and females.”

Yet what the Nature articles actually show is the exact opposite. The 12 genes residing on the Y chromosome exist to ensure sexual similarity. The genes are “dosage-sensitive,” meaning that two copies are needed for them to function properly. We’ve long known that those 12 genes exist on X chromosomes. Females have the 12 genes active on both of their X chromosomes. If males, who have just one X, didn’t have them on the Y, they would not have a sufficient dosage of those genes. Now we know they do. Just like women.

Reports of newly found sex differences in the genome need to be viewed with healthy skepticism.

Furthermore, the 12 genes do not specialize in sex differences. The studies demonstrate that they are part of a family of genes that play an all-purpose regulatory role in the human genome. Scientists don’t yet know precisely what the genes do, but the studies show that they are important, because fetal viability is impaired without two doses of them.

How did a study of gene dosage equalization between males and females get framed as a major new finding of sex difference?

A little literary forensics reveals the story. In the very last lines of one of the Nature papers—the part of a paper where researchers typically engage in a bit of speculation—the scientists wonder if the X-derived and Y-derived versions of the proteins encoded by the 12 genes might “exhibit subtle functional differences.” They venture that if this is the case, the possibility of a role in sex differences in disease might be explored in the future.

And with that, the study’s most speculative moment became the headline.

Genetic sex difference claims will proliferate in the coming years, as more studies based on the genome come out. Yet reports of newly found sex differences in the genome need to be viewed with healthy skepticism and an awareness of how gender beliefs can distort our interpretation of scientific results.

This rush to see sex differences where they may not exist is nothing new. A 2005 Nature paper declared that the sexes differ at up to 350 genes on the X chromosome, a finding that garnered major media coverage and led one commentator to gush that “women and men differ genetically almost as much as humans differ from chimpanzees.” Follow-up studies confirmed only nine such genes—but no headlines touted the corrective.

A 2007 paper in the Journal of the American Medical Association reanalyzed 188 claims of genetic sex differences in recent peer-reviewed scientific articles and found that 55.9 percent were not statistically significant. Additionally, almost none of the findings of sex differences had been replicated by other studies—a critical measure of the validity of genomic findings. The authors concluded that in genetic sex difference research, “investigators very often seem to fall into classic traps.”

Last month’s Y chromosome studies show the continuing, stubborn influence of what I call the “sex difference paradigm.” The studies presented the unsexy claim that certain genes on the Y chromosome work to ensure sexual similarity. Filtered through our gender scripts and scientific hype generator, it became a revolutionary finding said to have groundbreaking implications for our understanding of the genetic basis of sex differences.

How can we break the difference paradigm? Top scientists such as Randy Schekman have recently drawn attention to the pernicious role of leading journals such as Nature in encouraging scientists to make big media-ready claims that later don’t hold up scientifically. But hype is only part of the problem. When it comes to sex, scientific reviewers, journals, funders, and reporters simply find similarities less interesting than differences.

What can be done to change that? A project at Stanford University is leading the way, working to “identify gender bias and understand how it operates in science and technology.” The Gendered Innovations initiative, funded in part by the National Science Foundation, is all about showing how critical analysis of gender assumptions can contribute to scientific knowledge. Now the challenge is filtering that understanding to the media and to the public so that we all bring some skepticism to too-tidy findings, and recognize that the real discoveries happen when we free ourselves from old mindsets.

~ Sarah S. Richardson is an assistant professor at Harvard University. She is the author of Sex Itself: The Search for Male and Female in the Human Genome.

Thursday, January 16, 2014

The Y Chromosome is Not Doomed to Shrivel Away to Nothing

Well, dang, I guess that's some good news . . . . From The Guardian (UK):

Y chromosome is not doomed to shrivel away to nothing, say researchers

Despite concerns it may be shrinking, male sex chromosome is likely to remain in rude health for many millions of years to come.

Ian Sample, science correspondent
The Guardian, Thursday 9 January 2014

Mural featuring Genghis Khan and his court
One explanation for the lack of genetic variation on the Y chromosome is the Genghis Khan effect, with a small number of men fathering many children. Photograph: Alamy
Reports of the coming death of the male sex chromosome are greatly exaggerated, say scientists, whose work will raise a collective cheer from at least half the population. The fate of the Y chromosome, which carries the genetic switch that sends a developing embryo down the route to maleness, has been questioned since scientists first discovered that it had lost more than 90% of its genes over millions of years of evolution.

The steady withering of the Y has led some to claim that it might vanish completely over the next five million years, leaving humans to join the Okinawa spiny male rat on the list of species that make do without a sex chromosome. But that unsettling prospect is dismissed in research published on Friday by scientists at the University of California, Berkeley. Having studied the genetic makeup of 16 men, they conclude that natural selection is not about to cast the shrunken male chromosome on the evolutionary scrapheap.

The Y chromosome has shrunk over time because, unlike every other chromosome in the human body, it has no partner. This means it cannot easily be repaired when harmful mutations occur. Typically, people have 23 pairs of chromosomes including two that govern sex, which are X and Y in males, or two Xs in females. The numbers vary in some genetic disorders.Most chromosomes can repair damage that arises from mutations by swapping DNA with their opposite number, a process called recombination. But the Y is always inherited alone, so has no partner to swap with. As such, the damage builds up until the DNA is discarded, leaving the chromosome that much smaller. Today, the Y carries only 27 genes that are used to make proteins, compared with around 800 on the X chromosome. A few hundred million years ago, early versions of the X and Y were the same size.

Writing in the journal Plos Genetics,the Berkeley researchers describe the genetic diversity of Y chromosomes in eight European and eight African men. The variation was tiny, and suggests that the Y chromosome has been pared down to its bare essentials by "purifying selection"An alternative explanation for the low genetic variation of Y chromosomes is that a minority of men had a high proportion of children, passing on fewer Y chromosome variants to each successive generation. At the extreme is the Genghis Khan effect, named after the Mongol leader who fathered so many sons, his Y chromosome lives on in around 0.5% of the male global population. But the study found that if this were the driving force for low genetic variation on the Y chromosome, fewer than one in four men would have fathered children in the course of human history.

According to the researchers, all 27 genes on the Y chromosome, nearly half of which are poorly understood, are acted on by purifying selection. The fact they're still here suggests they have a valuable role to play in successful breeding.

"Natural selection is acting on the Y chromosome and has maintained the genes pretty well," said Melissa Wilson Sayres, an evolutionary biologist. "All the evidence points toward it not disappearing."

The Berkeley team now hopes to study more Y chromosomes to learn whether the genes are subjected to "positive selection", whereby beneficial mutations spread through the population.