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Chemical Marks on DNA Indicate Causes of Human Developmental Disorder: Study

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Working on DNAs can help scientists understand the underlying causes of several diseases.

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DNA is a door to all the information regarding a human. Working on DNAs can help scientists understand the underlying causes of several diseases.

Recently, in the latest research, scientists have explained the causes that lead to human developmental disorders using the generation of 168 new maps of chemical marks on DNA strands. According to the Salk scientists, the chemical marks on DNA, known as methylation, was studied and in developing mice.

The entire study was published in the special edition of the journal Nature, released on July 29, 2020. The special edition of the Nature was dedicated to the ENCODE Project, which is a scientific effort to identify functional elements in the human and mouse genomes.

The study revealed those narrow down regions of the human genome play an underlying role in development of diseases such as schizophrenia and Rett Syndrome.

Senior Author and Howard Hughes Medical Institute Investigator Joseph Ecker mentioned, “This is the only available dataset that looks at the methylation in a developing mouse over time, tissue by tissue. It's going to be a valuable resource to help in narrowing down the causal tissues of human developmental diseases.” Ecker is a professor at Salk's Genomic Analysis Laboratory.

The sequence of DNA in each cell of a human body is similar. However, the chemical marks on a few DNA give them a unique identity. These chemical marks on DNA in adult human brain cells will be different from that in other parts of the body. These short stretches of chemical marks in the genome are called enhancers.

Ecker explained, "Removal of methylation makes the whole genome more open to dynamic regulation during development."

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