In a recent groundbreaking study, the University of Eastern Finland has uncovered the profound impact of genetic variation on gene expression and chromatin accessibility. Published on January 22, 2024, this study delves into the intricate realm of genetic variations, chromatin accessibility, and gene expression, shedding light on the significant influence of genetic variations on transcription factor binding and gene regulation.

The study reveals that genetic variations, particularly those associated with a heightened risk of complex diseases, predominantly reside in non-protein-coding regions of genes. These variations can modify the sequences where transcription factors bind, consequently affecting gene expression. Transcription factors are essential to gene regulation, requiring precise binding to DNA sequences within the chromatin, a complex composed of DNA and associated proteins.

Researchers conducted experiments involving two genetically different mouse strains and observed significant differences in chromatin accessibility between the strains, particularly at chromosomal locations where genetic differences were present. These differences were often found near genes with varying expression levels between the strains, indicating the substantial influence of genetic variation on transcription factor binding and gene expression.

Despite the challenges in predicting changes in transcription factor binding sites due to genetic variation, the study found that a combination of data on chromatin accessibility, genetic variation, and transcription factor binding regions provided the most reliable predictions. The research significantly enhances our understanding of the complex interplay between genetics and chromatin in gene regulation and provides valuable insights for examining hereditary risk factors for complex diseases.

The findings of this study, published in the prestigious Nucleic Acids Research journal, mark a significant milestone in the field of genetic research. Supported by various Finnish institutions and foundations, this research sets a new standard for understanding the impact of genetic variation on gene expression and chromatin accessibility.