Asymmetric sex chromosomes were independently shaped during evolution in many species, and different strategies evolved alongside to overcome the resulting imbalance in genetic information. Molecular biologist Marie-Line Faucillion has studied this in her dissertation defended at UmeƄ University, Sweden. Her findings can be useful to better understand how sex chromosomes are regulated, but also to approach the study of gene regulation in a more holistic way.

A long long time ago, males and females were equal. Their chromosomes, at least were almost identical. But this equality changed under evolutionary pressure and sex specific chromosomes appeared. First, only a few male beneficial genes accumulated on one ordinary chromosome. Long story short, these genes stopped recombining with their equivalents for the production of sperm cells and ended up being only transmitted from fathers to sons through what we call the proto-Y chromosome.

This proto-Y chromosome, deprived of recombination started to degenerate, and lost most of the information it was carrying. As a result, female mammals and flies have two X chromosomes while their male counterparts have one X chromosome and one degenerated, information poor Y chromosome, along with several pairs of non-sex chromosomes (autosomes).

Two types of genetic imbalances

ā€œFrom a molecular perspective, two large issues arose from this chromosomal inequalityā€ says Marie-Line Faucillion. ā€œFirst, males and females do not carry the same amount of information anymore. The two female X chromosomes can be a template for printing twice as many mRNA molecules compared to the single male X chromosome.ā€

In mRNA, m stands for messenger and mRNA molecules are meaningful portions of code that are copied many times from the chromosomal DNA template and contain the instructions for building all the different proteins needed by the cell machinery. This is called gene expression.

ā€œThe second issue is that since proteins that come from different chromosomes may associate to form more complex molecular machines, the males will have a shortage of their X chromosome proteins compared to their autosomal proteins and not be able to assemble the correct complexes in the right amount. And this is simply lethal for themā€ adds Marie-Line Faucillion.

Mammals X-linked mRNAs became more stable…

Mammals are already known to inactivate one X chromosome in females in order to re-establish the male to female balance. However, the strategy to balance the autosomes with the sex chromosomes has been debated as to whether or not there was a doubling of mRNA production. Through her PhD work, Marie-Line showed that the lifespans of the mRNAs coming from the X chromosome was significantly longer than for the autosomes in mammals, and that this was one way of balancing gene expression.

…but flyĀ“s did not

In flies, however, she demonstrated that this was not the case and went on to propose two new ways in which genes could be regulated through modulating the amount of time they are used in a cell before being degraded.

Some redundancy explained

Flies are known to simply double the amount of mRNA they produce from their single X chromosome to solve both sex chromosome imbalances at once. This is orchestrated by a molecular machine made of five proteins and two specific RNAs. ā€œInterestingly, these RNAs do not carry information to build proteins and are redundant in a way that deleting each one of them has no consequence while deleting both kills malesā€ says Marie-Line Faucillion.

She investigated the individual roles of these RNAs and highlighted their differences, thus explaining why evolution did not discard any, even though only one of them is necessary for male survival.

About the dissertation

On Friday 10 December Marie-Line Faucillion, Department of Molecular Biology at UmeƄ University, defends her dissertation titled Chromosome-specific adaptations of RNA stability and the roles of the roXRNAs in dosage compensation, Swedish title: Kromosomspecifika anpassningar av RNA stabilitet och roX RNAs funktioner i doskompensation. The dissertation takes place at 09.00 in Astrid Fagraeus salen A103, Building 6E, UmeƄ University. The faculty opponent is Associate Professor Jean-Yves Roignant, PhD, Center for Integrative Genomics, University of Lausanne, Schweiz.

Read the dissertation

Press photo

For more information, please contact:

Marie-Line Faucillion, research assistant, Department of Molecular Biology, UmeƄ University
Phone: +46 90 785 67 96

UmeƄ University
UmeĆ„ University is one of Swedenā€™s largest institutions of higher education with over 36,000 students and 4,000 faculty and staff. The university is home to a wide range of high-quality education programmes and world-class research in a number of fields. UmeĆ„ University was also where the revolutionary gene-editing tool CRISPR-Cas9 was discovered that has been awarded the Nobel Prize in Chemistry.

At UmeĆ„ University, distances are short. The university’s unified campus encourages academic meetings, an exchange of ideas and interdisciplinary co-operation, and promotes a dynamic and open culture in which students and staff rejoice in the success of others.

Press contact:



090-786 50 89

Mobile phone:

072-206 89 23