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Clues to Alzheimer’s disease may be hiding in our ‘junk’ DNA

Researchers have identified DNA switches that control how brain cells called astrocytes work, which are known to play a role in Alzheimer's disease. The study used CRISPRi technology and single-cell RNA sequencing to test nearly 1000 potential switches, finding that about 150 of them controlled genes implicated in Alzheimer's disease.

SourceUniversity of New South Wales·JournalNature Neuroscience·TypeExperimental study·DateDec 18, 2025

Neanderthal DNA helps explain how faces form

Scientists studied Neanderthal DNA to understand how facial features develop and evolve. They found a region of DNA that activates the SOX9 gene, leading to a larger lower jaw in Neanderthals. This discovery sheds light on the genetic mechanisms behind face variation and evolution.

SourceThe Company of Biologists·JournalDevelopment·TypeExperimental study·DateNov 10, 2025

New class of cancer mutations discovered in so-called ‘junk’ DNA

A new study has identified potential cancer drivers hidden in so-called 'junk' regions of DNA, which could lead to early diagnosis and new treatments. The discovery reveals mutations in previously overlooked regions of the genome that may contribute to the formation and progression of at least 12 different cancers.

SourceGarvan Institute of Medical Research·JournalNucleic Acids Research·TypeExperimental study·DateJul 2, 2024

New genetic mutation identified for congenital thyroid condition

A team of researchers from the University of Chicago has identified a genetic mutation in a non-coding region of DNA that alters thyroid hormone regulation, leading to a rare form of congenital thyroid abnormality. This discovery sheds light on a previously unexplained phenomenon and may lead to new treatments for individuals with this...

SourceUniversity of Chicago·JournalNature Genetics·TypeExperimental study·DateMay 7, 2024

Synthetic tools conduct messages from station to station in DNA

Researchers used deactivated Cas9 proteins to target key segments of the human genome and synthetically trigger gene transcription. The study revealed that enhancers can send messages in both directions, but with a predominant regulatory mode where an enhancer tracks toward corresponding promoters.

SourceRice University·JournalNucleic Acids Research·TypeExperimental study·DateJul 18, 2022

Molecules produced by cells in response to stress may be indicators of various diseases

Researchers at Massachusetts General Hospital have discovered that certain RNA molecules called tDRs released by cells in response to stress can serve as markers of cellular stress in different diseases. The study created an atlas of stress signatures for tDRs, which can be used to diagnose and understand various conditions.

SourceMassachusetts General Hospital·JournalAdvanced Science·TypeExperimental study·DateApr 5, 2022

'Junk DNA' affects inherited cancer risk

A new study found that genetic variations in non-coding regions of DNA can drive cancer development. Researchers analyzed over 6 million genetic variants and discovered correlations between specific SNPs and the expression of oncogenes and tumour suppressor genes.

SourceCancer Research UK·JournalBritish Journal of Cancer·DateDec 5, 2019

Research improves understanding of mechanism of atrial fibrillation

Researchers at Baylor College of Medicine have discovered a functional link between noncoding DNA regions called Pitx2 enhancers and the expression of the Pitx2 gene in relation to atrial fibrillation. This interaction prevents predisposition to the condition by looping and folding distant Pitx2 enhancers to make contact with the gene.

SourceBaylor College of Medicine·JournalProceedings of the National Academy of Sciences·DateOct 21, 2019

Genome editing: Pressing the 'delete' button on DNA

A new software tool, CRISPETa, has been developed to efficiently delete non-coding DNA in living cells using CRISPR-Cas9 technology. This innovation has the potential to revolutionize our understanding of the genomic basis of disease and may lead to discovery of new disease-causing genes and potential new drugs.

SourcePLOS·JournalPLOS Computational Biology·DateMar 2, 2017

New tool enables scientists to interpret 'dark matter' DNA

Scientists at the Gladstone Institutes have invented a new way to read and interpret the human genome, using machine learning technology to predict gene-enhancer interactions. The TargetFinder tool accurately predicts complex three-dimensional interactions up to 85% of the time, opening the door to treating genetic diseases.

SourceGladstone Institutes·JournalNature Genetics·DateApr 4, 2016

Are the blueprints for limbs encoded in the snake genome?

Researchers have found that snakes share similar genetic patterns with mammals and birds in their limbs and genitalia, suggesting a common ancestry. The study's findings suggest that these genetic elements may play a crucial role in phallus development and genital shape variation among species.

SourceCell Press·JournalDevelopmental Cell·DateOct 1, 2015

Carnivorous plant throws out 'junk' DNA

The Utricularia gibba genome, smallest sequenced from a complex plant, contradicts the notion that vast quantities of noncoding DNA are crucial for complex life. The bladderwort has purged most of its genetic material, including noncoding 'junk' DNA, while maintaining a functional set of genes similar to those of other plant species.

SourceUniversity at Buffalo·JournalNature·DateMay 12, 2013

Missing DNA makes us human

The study found that humans have unique non-coding DNA segments missing in chimpanzees and other animals, which are correlated with specific human physical characteristics. These differences may have evolved to favor pair-bonding relationships and group living, rather than rapid copulation.

SourcePenn State·JournalNature·DateMar 9, 2011

Study finds value in 'junk' DNA

A recent study from the University of Iowa found that nearly half of human DNA, composed of repetitive sequences like Alu elements, gives rise to functional exons that regulate gene expression. These findings suggest a link between 'junk' DNA and human-specific traits, such as muscle-related diseases.

SourceUniversity of Iowa·JournalPLOS Genetics·DateOct 16, 2008

Early-stage gene transcription creates access to DNA

Researchers have discovered a novel mechanism in gene expression where non-coding RNAs create access to DNA, allowing transcriptional activation proteins to initiate gene expression. This process involves the transient synthesis of non-coding RNAs that unfurl tightly wound DNA, enabling gene expression.

SourceBoston College·JournalNature·DateOct 6, 2008