Genetics

According to a study which involved more than 4,000 participants, more information about potential disorders can be obtained using chromosomal microarray (CMA) to test a developing fetus' DNA, than the standard method of prenatal tests, which is used to visually analyze the chromosomes (karyotyping)...

Cancer diagnosis and selecting the most appropriate treatment can be made easier by identifying genetic mutations through DNA sequencing...

Scientists have developed a new community resource that may act as a Rosetta stone for revealing the genetic basis of traits and disease. A paper in the Feb. 9 issue of Nature describes the Drosophila Genetic Reference Panel (DGRP), which provides the highest-resolution view to date, of the genome structure and variation in a population of 192 fruit flies with diverse traits...

It's been more than 50 years since James Watson and Francis Crick showed that DNA is a double helix of two strands that complement each other. But how does a short piece of DNA find its match, out of the millions of 'letters' in even a small genome? New work by researchers at the University of California, Davis, handling and observing single molecules of DNA, shows how it's done...

A large-scale study analyzing metabolic compounds in rice grains conducted by researchers at the RIKEN Plant Science Center (PSC) and their collaborators has identified 131 rice metabolites and clarified the genetic and environmental factors that influence their production...

Reviving a theory first proposed in the late 1800s that the development of organs in the normal embryo and the development of cancers are related, scientists at the Salk Institute for Biological Studies have studied organ development in mice to unravel how breast cancers, and perhaps other cancers, develop in people...

Researchers have discovered a restricted pattern of molecules that differentiate early-stage breast tumors from invasive, life-threatening cancer. They also found a similar molecular signature that correlated with the aggressiveness of invasive tumors, and with the time to metastasis and overall survival. Researchers at the Ohio State University Comprehensive Cancer Center - Arthur G...

Parkinson's disease researchers at the University at Buffalo have discovered how mutations in the parkin gene cause the disease, which afflicts at least 500,000 Americans and for which there is no cure. The results are published in the current issue of Nature Communications...

The molecular pathway that carries time-of-day signals from the body's internal clock to ultimately guide daily behavior is like a black box, says Amita Sehgal, PhD, the John Herr Musser Professor of Neuroscience and Co-Director, Comprehensive Neuroscience Center, at the Perelman School of Medicine, University of Pennsylvania...

DNA sequences from tumor cells can be used to direct the immune system to attack cancer, according to scientists at Washington University School of Medicine in St. Louis. The research, in mice, appears online in Nature. The immune system relies on an intricate network of alarm bells, targets and safety brakes to determine when and what to attack...

Gene therapy for congenital blindness has taken another step forward, as researchers further improved vision in three adult patients previously treated in one eye. After receiving the same treatment in their other eye, the patients became better able to see in dim light, and two were able to navigate obstacles in low-light situations. No adverse effects occurred...

A recent study published by The Lancet suggests that males with a certain variant on their Y-chromosome are at a 50% higher risk of developing coronary artery disease (CAD)...

A common heart disease which kills thousands each year may be passed genetically from father to son, according to a study led by the University of Leicester. A paper published in medical journal The Lancet shows that the Y chromosome, a part of DNA present only in men, plays a role in the inheritance of coronary artery disease (CAD)...

A gene that influences the inflammatory response to infection may also predict the effectiveness of drug treatment for a deadly form of tuberculosis...

In a study conducted by researchers at Moffitt Cancer Center and colleagues from 11 other institutions in the Unites States and the United Kingdom, genes that are known to be involved in inflammation were found to be related to risk of ovarian cancer. Their study appeared in a recent issue of Cancer Research, published by the American Association for Cancer Research...

Treatments for Parkinson's disease, estimated to affect 1 million Americans, have yet to prove effective in slowing the progression of the debilitating disease...

Researchers at Virginia Commonwealth University Medical Center's VCU Massey Cancer Center and Harold F...

The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published by the European Association for the Study of the Liver (EASL) on the EASL website*...

Each human has approximately 50-280 frameshifting indels, yet their implications are unknown. We created SIFT Indel, a prediction method for frameshifting indels which has 84% accuracy. The percentage of human frameshifting indels predicted to be gene-damaging is negatively correlated with allele frequency. We also show that although the first frameshifting indel in a gene causes loss of function, there is a tendency for the second frameshifting indel to compensate and restore protein function. SIFT Indel is available at http://siftdna.org/www/SIFT_indels2.html

Background: Ethnic differences in human DNA methylation have been shown for a number of CpG sites, but the genome-wide patterns and extent of these differences are largely unknown. In addition, whether the genetic control of polymorphic DNA methylation is population-specific has not been investigated. Results: Here we measure DNA methylation near the transcription start sites of over 14,000 genes in 180 cell lines derived from one African and one European population. We find population-specific patterns of DNA methylation at over a third of all genes. Furthermore, although the methylation at over a thousand CpG sites is heritable, these heritabilities also differ between populations, suggesting extensive divergence in the genetic control of DNA methylation. In support of this, genetic mapping of DNA methylation reveals that most of the population-specificity can be explained by divergence in allele-frequencies between populations, and that there is little overlap in genetic associations between populations. These population-specific genetic associations are supported by the patterns of DNA methylation in several hundred brain samples, suggesting that they hold in vivo and across tissues. Conclusions: These results suggest that DNA methylation is highly divergent between populations, and that this divergence may be due in large part to a combination of differences in allele frequencies and complex epistasis or gene x environment interactions.