A recent study published in Nature Genetics analyzed mutant sperm cells to identify genes involved in disease, revealing that duplications are less frequent than deletions in certain regions. The findings suggest improved diagnosis for genomic diseases and a new approach to predicting disease-causing variants.
A new study reveals that genetic variation in regions controlling gene activity is a significant contributor to common diseases. The researchers analyzed the activity of almost 14,000 genes and found over 1300 genes affected by DNA sequence changes in regulatory regions.
Researchers compared Leishmaniasis-causing parasite genomes and identified a small number of genes that can be targeted for new treatments. The study found that only a few genes are important in determining disease severity, and some genes may play key roles in interacting with the human host.
A comprehensive analysis of the human genome has shown that a significant portion of the genome is actively transcribed and copied into RNA, relaying information to cellular machinery. The study identified new regions of gene regulation and altered our understanding of how genes are controlled.
The Clostridium botulinum genome, the source of the world's deadliest toxin, is remarkably stable and shows limited genetic variation. The organism uses a single-minded opportunistic approach to survive, relying on its ability to form dormant spores and attack animal hosts with its potent toxin.
A microRNA in mouse immune cells is shown to balance the response of immune defenses, with its equivalent human gene playing a vital role. Knockout mice develop autoimmune symptoms and are less resistant to bacterial infections, highlighting the importance of this microRNA in the immune system.
The study reveals that driver mutations are fewer than previously thought, but still outnumber passenger mutations. The researchers identified possible driver mutations in 120 genes, most of which had not been seen before.
A global survey of genetic variation shows that at least 10-20% of heritable variation in gene activity is due to copy number variations (CNVs), affecting the activity of over 1,000 genes. The study provides a first genome-wide view of how unique genetic variations lead to unique patterns of gene activity.
Researchers discovered a new type of DNA parasite that can increase the spread of antibiotic-resistant bacteria. The 'stealth' plasmid produces a protein that helps it survive and thrive in bacteria, making it harder to eradicate with antibiotics.