REYKJAVIK, Iceland, July 24,
2024 /CNW/ -- A new study by scientists
at deCODE Genetics, subsidiary of Amgen, shows that
sequence variants drive the correlation between DNA methylation and
gene expression. The same variants are linked to various diseases
as well as other human traits.
The research was published today in the scientific journal
Nature Genetics under the title: The correlation between CpG
methylation and gene expression is driven by sequence variants.
Nanopore sequencing is a new technology developed by ONT (Oxford
Nanopore Technology), that enables us to analyze DNA sequences in
real-time. With this technology, DNA molecules are drawn through
tiny protein pores, and real-time measurements of electric current
indicate which nucleotides in the DNA have passed through the
pores. This allows the sequence of nucleotides in the DNA to be
read, while also making it possible to detect chemical
modifications of the nucleotides from these same measurements.
One such modification is called DNA methylation and is thought
to be important in determining which genes are used at any given
time; commonly referred to as regulation of gene expression by
scientist in the field. Nanopore sequencing technology enables
direct measurement of DNA methylation, while also yielding longer
reads of DNA sequences than pre-existing technologies have been
able to achieve. These advances offer new opportunities by
enabling the measurement of DNA methylation of all CpG sites in the
human genome and, as this technology can read long DNA sequences,
it is possible to determine DNA methylation on chromosomes from
both parents, separately.
In the study, the scientists were able to assign CpG
methylation, gene expression and alleles of sequence variants to
parental chromosomes, allowing them to investigate correlations
between the three sets of measurements on a haplotype level. The
study shows that sequence variants affect DNA methylation and,
furthermore, some of these variants can be linked to various
diseases as well as other human traits. Importantly, the study
shows that the correlation between DNA methylation and gene
expression can be attributed to sequence variants, indicating that
these variants are the driving factor.
The majority of sequence variants that have been linked to
diseases are found in the noncoding genome, on regions of the
genome that do not encode for proteins. For this reason, it
has been difficult to understand how noncoding sequence variants
lead to diseases. By studying the effects on DNA methylation, the
scientists were able to show that many of these variants correspond
to sequence variants that had previously been associated with
disease, thereby enabling us to better understand how they lead to
the progression of diseases.
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SOURCE deCODE genetics