Archives for posts with tag: gene

A change in the gene for aquaporin 5 causes diffuse non-epidermolytic palmoplantar keratoderma, where the skin on some people’s hands go white and spongy after being exposed to water because it becomes more porous.  It’s similar to what happens when you stay in the bath much too long, but sets in a lot more quickly.

See The American Journal of Human Genetics for the original paper.

People who have a variant of the gene IFITM3 means that they get flu symptoms more severely, and this form of the gene is more common in China.

Read the original paper in Nature Communications.

A twin study in Québec has raised the question of genetics and bullying again, with results that seem to show that relationship problems, victimization and rejection have a genetic root – but in the victims, not the bullies.

Around 2% of the population has a genetic variant that means they don’t produce under-arm odour – and these people often have dry rather than sticky earwax. However, 78% of them still buy deodorant.

Ethiopians can live and work more than a mile and a half above sea level without getting acute mountain sickness, despite breathing lower pressure air with lower levels of oxygen. This is because they have a gene adaptation that keeps their haemoglobin levels lower, reducing their risk of stroke. This is a different adaptation to that seen in Tibetans

Read the original article in PLoS Genetics.

However fit and well you feel, however good your genetic inheritance, nobody’s genes are perfect, because everyone carries an estimated 400 damaging gene variants and two disease-causing mutations. It’s not as bad as it sounds, though – many of the disease or damaged variants are unlikely to cause any harm to the carrier, and even though as many as one in ten people studied were expected to develop a genetic disease as a consequence of the variants, these are often very mild.

Read the original paper in the American Journal of Human Genetics.

Researchers have found the gene for a protein that keeps the head on beer stable – so you can thank the fermentation gene CFG1 (Carlsbergensis foaming gene) and the cell wall protein Cfg1p for the foam on your pint.

See the original paper in the Journal of Agricultural and Food Chemistry.

So, are Olympic athletes genetically better at sport? According to an article in Nature, “almost every male Olympic sprinter and power athlete ever tested carries the 577R allele, a variant of the gene ACTN3“. This gene is expressed in skeletal muscle fibre and could have an effect on athletic performance – in total, more than 200 genes have been linked with athletic performance, including variants that improve endurance, or increase the numbers of red blood cells, so upping oxygen carrying capabilities in the blood. Read more on genetics at the Olympics in Genome Engineering.

London 2012 unveils anti-doping laboratory with laboratory service providers GlaxoSmithKline (GSK) and laboratory operators King's College London

Source: London 2012

Olympic Games 27 July – 12 August

Scientists working with Team GB are using genetic tests to try to work out why some athletes are prone to injury such as tendon injuries and stress fractures. Researchers at University College London may have found a gene linked with injury.

Olympic Games 27 July – 12 August

Around 5-10% of the population in the Solomon Islands is blond, and it was thought to be from European ancestors, but researchers have found that it is a separate gene, on chromosome 19.

The research was published in Science.

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