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Study tracks worldwide spread of beneficial blood cell gene variant
Date:7/28/2014

etics, looked at genetic factors that can reduce the severity of these blood disorders. Typically, our bodies make fetal haemoglobin whilst in the womb, but then switch to another form of haemoglobin, adult haemoglobin, at birth. However, we continue to produce very small amounts of fetal haemoglobin in adulthood, some more than others. Patients who have the genetic factors that increase fetal haemoglobin production tend to have milder symptoms of their blood disorder.

While studying patients of African and of South Asian descent, the authors noticed that one such factor, a genetic variant controlling the red blood cell regulator gene MYB - 'MYB enhancer variant' - on Chromosome 6, is of similar genetic structure not only in both patient groups, but also in healthy individuals, including those of Northern European origin, where thalassaemia and sickle cell disease are rare. This led the authors to suspect that beneficial MYB enhancer variants, which promote fetal haemoglobin in the body, are a general feature of human populations across the world and that they might have a common origin.

To test this hypothesis, the team searched for genetic signatures of such variants in public genome data generated from world populations to see whether they existed in other ethnic groups. They found signatures for two different types of MYB enhancer variants, HMIP-2A and HMIP-B, in major human population groups and in nearly all ethnic groups covered by the data. Both variants occur in Sub-Saharan Africa, but only at low frequencies. In much of the rest of the world the alleles have combined, forming HMIP-2A-B, and this combination is relatively common in Europe, South Asia and China. HMIP-2B separately is common in Far-East Asian peoples and in Amerindians, illustrating their connection across the Bering Strait.

The team also tested recent genome sequence data from our extinct cousins, the Neanderthals and Denisovans, and from the Great Apes, but d
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Contact: Jenny Gimpel
jenny.gimpel@kcl.ac.uk
44-020-784-84334
King's College London
Source:Eurekalert

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