In a new study, researchers from the Karolinska Institute in Sweden mapped how different DNA-binding proteins in human cells respond to certain biochemical modifications of DNA molecules. They reported that some of the major regulatory proteins were able to activate regions of the genome that were not active in the normal case due to epigenetic changes. Their findings helped better understand the process of gene regulation, embryonic development and diseases leading to cancer. The results of the study were published in the Science on May 5, 2017, entitled "Impact of cytosine methylation on DNA binding specificities of human transcription factors".
DNA molecules carry genetic information in the form of nucleotide sequences consisting of four bases. The four bases are adenine (A), cytosine (C), guanine (G) and thymine (T), which can be considered as the genomic symbols. The shorter nucleotide sequence forms a DNA fragment that determines when and where the protein is present. 
Almost all of the cells in the human body contain the same DNA sequence in very much the same order. However, different genes have different activities in different cell types, which allows these cells to function with specific functions. The key to this gene regulation is the specific DNA-binding protein—a transcription factor that binds to a DNA sequence to activate or inhibit gene activity.
DNA Cytosine C exists in two forms: cytosine (C) and methylcytosine (Ç). DNA methylation is an epigenetic modification, that is, a biochemical change in the genome, but this change does not alter the DNA sequence. These two forms of the Cytosine C do not have an effect on the gene-expressed protein, but they can have a significant effect on when and where to express these proteins. Previous studies have confirmed that the genomic region in which the Cytosine C is methylated is often inactive and that many transcription factors can not bind to this sequence containing methylated Ç.
By analyzing hundreds of different human transcription factors, these researchers have now found that certain transcription factors actually prefer this methylation Ç which plays an important role in embryonic development, as well as in the production of prostate and colorectal cancer. "These results suggest that these 'main' modulators can activate regions of the genome that are not active in normal circumstances, and thus," said Jussi Taipale, a professor of medical biochemistry and biophysics at the Karolinska Institute, “leading to the organogenesis during development or promoting pathology changes in cells that cause cancer and other diseases. "
These results pave the way for breaking the genetic code that controls gene expression and will have a broad impact on understanding development and disease. The genome-related information associated with the disease is increasing exponentially.
"This study examines how this apparent genetic modification of DNA structures affects the binding of transcription factors, which increases our understanding that how genes are regulated in cells, and it further helps us to decipher the secret in DNA.
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