Genetic variants
can ‘switch’ regulatory elements on or off. Credit: EMBL/P.Riedinger
In a nutshell:
* Scientists
integrate ‘omics’ techniques to understand genetic mechanisms controlling gene
expression.
* Integrative
computational strategy makes it possible to chart interactions between genetic
switches.
* ‘Switches’
controlling gene expression might be far apart on DNA strand, but close in 3D
space.
* Map of genetic
‘switches’ will pave the way for understanding the molecular basis of complex
genetic diseases.
(August 21, 2015) Scientists at the European Molecular Biology Laboratory
(EMBL) in Heidelberg, Germany, and Stanford University in the USA, have shed
new light on how the variations in our molecular make-up, such as gene
expression, are controlled within our DNA. The research, published today in
Cell, leads to a greater understanding of how certain genetic variants can
‘switch’ on or off the regulatory elements which control the expression of
genes and ultimately the manifestation of an individual’s characteristics and
disease predispositions.
These variants are found in regions of the genome which are
not directly responsible for coding genes, but which instead have a regulatory
function. Not much is yet known about these regions, however, research into how
the variants work could eventually lead to new clues about how human diseases
might be understood at a genetic level and, ultimately, controlled.
“We know many genetic variants are associated with different
diseases, but since most of them lie in the non-coding part of the genome, we
often don’t know what the precise mechanisms underlying these associations
are,” explains Judith Zaugg, who led the study at EMBL. “Our results, and the
computational approaches we have developed mean it will now be possible to take
these variants and link them back to the regulatory network within the DNA to
identify the specific gene that is associated with them. This might enable us
to unravel the causal mechanisms behind certain inherited diseases.”