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Variation in women's X chromosomes may explain differences among individuals, between sexes

symptoms associated with the loss or aberration of particular portions of the X chromosome will depend on the number of active genes normally contained within that segment, he explained.

The findings also highlight key differences between female and male genomes, according to the researchers.

For one thing, women are known to consist of a mosaic of two cell types that differ in which X chromosome is inactivated. The Y chromosome also endows males with at least several dozen expressed genes that females lack.

The incomplete nature of X inactivation, demonstrated in the new study, means that at least 15 percent of the X-linked genes, and their protein products, are present at characteristically higher, and often variable, levels in females compared to males.

Moreover, the findings show that a minimum of an additional 10 percent of genes are expressed at variable levels among females, while all males express a single copy of such genes.

"We now know that 25 percent of the X chromosome -- 200 to 300 genes can be uniquely expressed in one sex relative to the other," Willard said. "In essence, therefore, there is not one human genome, but two -- male and female.

"Such characteristic genomic differences should be recognized as a potential factor to explain sex-specific traits both in complex disease, as well as normal gender differences," he continued.

Notwithstanding the genomic and biological significance of these sex-specific differences, many questions remain, Willard said. For example, further study is required to determine if the pattern of X inactivation differs across tissues or over time and whether there are characteristic patterns of inactivation in maternally versus paternally inherited X chromosomes.


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Contact: Kendall Morgan
kendall.morgan@duke.edu
919-660-1306
Duke University Medical Center
16-Mar-2005


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