Naturally blond hair is found almost entirely in Northern Europe and Oceania – but is it from the same gene? In the Solomon Islands, 5-10% of the population is blond and research led by Stanford University School of Medicine has shown that the mutation leading to blond hair arose separately here. The research was published in Science.
mutation archive.
What has van Gogh got to do with genetics? Well, researchers have unpicked the genetics of the sunflowers in his famous paintings. The team, from the University of Georgia scientists found the mutation behind the distinctive, thick bands of yellow double flowers, and the results are published in the journal PLoS Genetics.
There’s been a lot of research on the genetics of obesity, and it’s likely that more than one gene will be involved. And it’s important to know – as well as the effect that obesity has on the heart and the risk of cancer and diabetes, it may also affect brain function in later life.
Cancer is serious, and needs seriously effective drugs, but some cancer chemotherapies can cause genetic changes that can be passed on to the next generation. However, according to some research published in PNAS, it’s also possible that this next generation may end up with unstable DNA that is prone to even more mutations long after treatment, which is worrying for children of people who have survived cancer.
Diffuse intrinsic pontine glioma (DIPG) is a rare and lethal childhood brain cancer, and researchers taking part in the Pediatric Cancer Genome Project (PCGP) have found a link with a gene not previously connected with cancer, in a paper published in Nature Genetics.
Prostate cancer usually is seen in men over 50, and is slow-growing and often symptom-free. However, the form that runs in families can start earlier, and researchers believe that they might have found the mutation behind this, the first major mutation associated with prostate cancer.
Haemophilia B is an inherited bleeding disorder caused by a mutation to the gene for factor IX, a blood clotting factor. It is X-linked and recessive, so it generally affects males but can be carried silently by females and passed onto their male offspring. Haemophilia B can be life-threatening, shortens lifespan, and makes daily life complicated. Researchers at University College London and St Jude Children’s Research Hospital have created a gene therapy and shown it to be effective in early studies.
Cystic fibrosis is a homozygous recessive genetic disease caused by a mutation in CFTR, the gene that encodes the cystic fibrosis transmembrane conductance regulator, an ion channel. Trudi McDevitt of the National Centre for Medical Genetics, Dublin, presented on her team’s search for a new diagnostic screening tool at Planet xMAP in Vienna.
Eating less makes you live longer. Despite the jokes that it just makes it seem longer, it’s true – animal studies, including in nematodes and rats show an up to 50% increase in lifespan, and the Calorie Restriction Society believes that it can work for people too. The CALERIE study at Duke University is a two year study to assess its practicality and safety. Researchers had linked the lifespan extension to the gene SIR2, which codes for sirtuins, but a paper in Nature has cast doubt on this connection.
Fusion proteins are produced when mutations combine coding sequences from two separate genes. These proteins can be oncogenic, and a team of researchers from the USA, Israel and Spain have discovered gene sequences that could produce fusion proteins in colorectal cancer.
