The Impact of Sex and Ancestry in Gene Regulation: Decades of GTEx Analysis

New Map Charts Gene Expression across Tissue Types and Sexes

The GTEx team was able to identify the relationship between the specific genes and the expression quantitative trait loci (eQTL) by using the data. According to Kristin Ardlie, a GTEx member from the Broad Institute and a human geneticist, almost all human genes are regulated by at least one eQTL. Each eQTL may also influence expression of more than one gene.

The analyses also revealed that sex affects gene expression across all tissue types, including brain cells and heart cells. The GTEx study’s coauthor Barbara Stranger, of Northwestern University Feinberg School Of Medicine, told Science that although males and women share the majority of their biology, there are huge differences in gene expression. These differences could explain differences between disease progression. In the future, the knowledge gained from this study may help to develop personalized medicine where biological sex is considered as a relevant component of an individual’s characteristic. This statement was released by the Centre for Genome Regulation, in Barcelona, which houses some of the GTEx researchers.

One of the studies supports the link between telomeres, ancestry and aging. GTEx researchers found that telomere length can be measured in 23 different types of tissue. They also discovered that blood is a good proxy to measure the overall length of other tissues. As previously reported, the team showed that shorter telomeres are associated with aging, and longer telomeres can be found in African-Americans. The authors did not see the same results as earlier studies. They didn’t find a pattern in which females had longer telomeres, or smokers who constantly had shorter telomeres.

Some people are not praising the project. Dan Graur is an evolutionary biologist from the University of Houston, who has criticized large projects such as GTEx. He told Science that the results were difficult to interpret and that there was a lack of diversity with 85 percent of tissue donors being white. He also questioned the validity of using tissue from deceased donors to reflect gene activity of living humans. It’s the same as studying the mating behavior of roadkill.

Scientists say that there is still much to do. Many questions remain unanswered about how gene regulatory systems interact and the exact sequences causing disease. Ewan Birney is the deputy director of EMBL and a genomicist. He told Science that \”we shouldn’t give up on gene expression.\”

The results of a decade-long investigation into gene regulation reveal differences between men and women, point to essential regulatory components, and provide insight into previous work on telomeres.


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