A brand new research by scientists at deCODE Genetics, a subsidiary of Amgen, reveals that sequence variants drive the correlation between DNA methylation and gene expression. The identical variants are linked to varied ailments and different human traits.
The analysis was printed at present within the scientific 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 allows us to research 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 enables the sequence of nucleotides within the DNA to be learn, whereas additionally making it potential to detect chemical modifications of the nucleotides from these similar measurements.
One such modification is named DNA methylation and is regarded as necessary in figuring out which genes are used at any given time; generally known as regulation of gene expression by scientist within the subject. Nanopore sequencing know-how permits direct measurement of DNA methylation, whereas additionally yielding longer reads of DNA sequences than pre-existing applied sciences have been in a position to 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 potential to find out DNA methylation on chromosomes from each dad and mom, individually.
Within the research, the scientists had been in a position to assign CpG methylation, gene expression and alleles of sequence variants to parental chromosomes, permitting them to analyze correlations between the 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 will be linked to varied ailments in addition to different human traits. Importantly, the research reveals that the correlation between DNA methylation and gene expression will be attributed to sequence variants, indicating that these variants are the driving issue.
The vast majority of sequence variants which were linked to ailments 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 ailments. By learning the consequences on DNA methylation, the scientists had been in a position to present that many of those variants correspond to sequence variants that had beforehand been related to illness, thereby enabling us to raised perceive how they result in the development of ailments.
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Journal reference:
Stefansson, O. A., et al. (2024). The correlation between CpG methylation and gene expression is pushed by sequence variants. Nature Genetics. doi.org/10.1038/s41588-024-01851-2.
