junk DNA tagged posts

Neurodevelopmental condition can result from mutations in the noncoding regions of the human genome, research shows. Leveraging artificial intelligence techniques, researchers have demonstrated that mutations in so-called ‘junk’ DNA can cause autism. The study, published May 27 in Nature Genetics, is the first to functionally link such mutations to the neurodevelopmental condition.

The research was led by Olga Troyanskaya in collaboration with Robert Darnell. Troyanskaya is deputy director for genomics at the Flatiron Institute’s Center for Computational Biology (CCB) in New York City and a professor of computer science at Princeton University...

Blood cell analysis identifies 1000s of disease-related genes. Using a pioneering technique developed at the Babraham Institute, results are beginning to make biological sense of the mountains of genetic data linking very small changes in our DNA sequence to our risk of disease. Discovering these missing links will inform the design of new drugs and future treatments for a range of diseases.

Comparing the genome sequences of 100s of 1000s of patients and healthy volunteers has revealed single-letter changes found more frequently in the DNA sequences of individuals with specific diseases. In most cases, the disease-linked changes occur in the large swaths of DNA located between genes, ie junk DNA...

Intestinal cells in a healthy individual in which the non-coding RNA of the Inc13 gene appears in red (the red dots would not be seen in a celiac patient). Credit: Image courtesy of University of the Basque Country

40% of the population carry the main risk factor for celiac disease but only 1% go down with it. A new gene that influences its development has been found in what until recently has been known as ‘junk’ DNA.

It has been known for some time that celiac disease develops in people who have a genetic susceptibility, but despite the fact that 40% of the population carry the most decisive risk factor (the HLA-DQ2 and DQ8 polymorphisms), only 1% go on to develop the disease...