A brand new research by scientists at deCODE Genetics reveals that sequence variants drive the correlation between DNA methylation and gene expression. The identical variants are linked to varied illnesses and different human traits.
The analysis is printed within the journal Nature Genetics below the title “The correlation between CpG methylation and gene expression is pushed by sequence variants.”
Nanopore sequencing is a brand new know-how developed by ONT (Oxford Nanopore Expertise), that permits us to investigate DNA sequences in real-time. With this know-how, DNA molecules are drawn by tiny protein pores, and real-time measurements of electrical present point out which nucleotides within the DNA have handed by the pores. This permits the sequence of nucleotides within the DNA to be learn, whereas additionally making it attainable to detect chemical modifications of the nucleotides from these similar measurements.
One such modification known as DNA methylation, regarded as vital in figuring out which genes are used at any given time, and generally known as regulation of gene expression by scientists within the discipline. Nanopore sequencing know-how allows direct measurement of DNA methylation, whereas additionally yielding longer reads of DNA sequences than pre-existing applied sciences have been capable of obtain.
These advances provide new alternatives by enabling the measurement of DNA methylation of all CpG websites within the human genome and, as this know-how can learn lengthy DNA sequences, it’s attainable to find out DNA methylation on chromosomes from each mother and father, individually.
Within the research, the scientists had been capable of assign CpG methylation, gene expression and alleles of sequence variants to parental chromosomes, permitting them to analyze correlations among the many three units of measurements on a haplotype stage.
The research reveals that sequence variants have an effect on DNA methylation, and moreover, a few of these variants might be linked to varied illnesses in addition to different human traits. Importantly, the research reveals that the correlation between DNA methylation and gene expression might be attributed to sequence variants, indicating that these variants are the driving issue.
The vast majority of sequence variants which have been linked to illnesses are discovered within the noncoding genome, on areas of the genome that don’t encode for proteins. For that reason, it has been obscure how noncoding sequence variants result in illnesses.
By finding out the consequences on DNA methylation, the scientists had been capable of present that many of those variants correspond to sequence variants that had beforehand been related to illness, thereby enabling us to higher perceive how they result in the development of illnesses.
Extra data:
The correlation between CpG methylation and gene expression is pushed by sequence variants, Nature Genetics (2024). DOI: 10.1038/s41588-024-01851-2
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deCODE genetics
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Examine hyperlinks sequence variants to DNA methylation and illnesses (2024, July 24)
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