Category: Genes of the Week

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EPAS1, the athlete and highland gene

When I started researching this week’s article, I was amazed myself. EPAS1 is a really fascinating protein. So I’ll do my best to try and tell you what is so special about EPAS1. Only so much in advance: it has to do with Tibetans, athletes, oxygen and a long extinct human species. In fact, the only uninteresting thing about EPAS1 is its full name: endothelial PAS domain-containing protein 1. What was breathtaking, in contrast, was the observation that Tibetans almost exclusively carry a certain variant of the EPAS1 gene, which hardly ever occurs in Han Chinese (published in 2010 in science). … Read more

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ABL – a Leukemia Gene in a New Context

This week I once again decided on a gene classic. This classic, however, has just been described in a new context. But first, the already well established connection between this gene and a particular form of leukemia leads us back to the early 1960s. It was during these medically exciting years – in which the birth control pill, for example, made its revolutionary introduction – that for the first time a strange-looking chromosome was associated with a severe form of leukemia, chronic myelosis. This strange chromosome was named the Philadelphia chromosome after the location of the first discovery.… Read more

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UBE3A: how Epigenetics can Determine the Nature of a Disease

Most readers probably learned it in school: we carry two copies of every gene in us. Mutations in these genes can cause disease. We call it a recessive mutation if such a variant has to be inherited from mother and father, i.e. both copies of the gene in the child must be affected for a disease to manifest. For a dominant variant, on the other hand, it is sufficient if either the mother or the father inherits such a copy, because a single copy of this variant triggers the disease. An example of a devastating mutation with dominant inheritance is Huntigton’s chorea. This degenerative disease, which is unfortunately fatal without exception, is passed on to the child from an affected parent with a 50% probability. It does not matter whether the variant was inherited from the mother or the father for the course of the disease, because on the so-called autosomes (these are all chromosomes except the sex chromosomes X and Y), both copies of the DNA segments are actually equivalent. But is that really always true? Not quite! And that is one of many reasons why the subject of epigenetics is currently so popular.… Read more

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SRY: boy or girl?

Personally, I am particularly interested in genes that do something with us during embryonic development. And hardly any genes make anything more crucial than SRY during our embryonic development. The acronym stands for Sex determining Region on Y-chromosomes and in fact, the name says almost everything.… Read more

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BRCA: A patent war on the breast cancer genes

Well, actually there are two BRCA (pronounced “Brakka”) genes: BRCA1 and BRCA2. Few genes have caused so many headlines in recent years as they did. The BRCA genes are so hotly debated as an American biotech company was holding an extremely lucrative patent on these two genes. What that means I would like to explain later; but first, why are BRCA1 and 2 so important?… Read more

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