Early Europeans unable to digest milk

This is the EurekAlert release; I did not see the PNAS article online yet.

The first direct evidence that early Europeans were unable to digest milk has been found by scientists at UCL (University College London) and Mainz University.

In a study, published in the journal 'PNAS', the team shows that the gene that controls our ability to digest milk was missing from Neolithic skeletons dating to between 5840 and 5000 BC. However, through exposure to milk, lactose tolerance evolved extremely rapidly, in evolutionary terms. Today, it is present in over ninety per cent of the population of northern Europe and is also found in some African and Middle Eastern populations but is missing from the majority of the adult population globally.

Dr Mark Thomas, UCL Biology, said: "The ability to drink milk is the most advantageous trait that's evolved in Europeans in the recent past. Without the enzyme lactase, drinking milk in adulthood causes bloating and diarrhoea. Although the benefits of milk tolerance are not fully understood yet, they probably include: the continuous supply of milk compared to the boom and bust of seasonal crops; its nourishing qualities; and the fact that it's uncontaminated by parasites, unlike stream water, making it a safer drink. All in all, the ability to drink milk gave some early Europeans a big survival advantage."

The team carried out DNA tests on Neolithic skeletons from some of the earliest organised farming communities in Europe. Their aim was to find out whether these early Europeans from various sites in central, northeast and southeast Europe, carried a version of the lactase gene that controls our ability to produce the essential enzyme lactase into adulthood. The team found that it was absent from their ancient bone DNA. This led the researchers to conclude that the consumption and tolerance of milk would have been very rare or absent at the time.

Scientists have known for decades that at some point in the past all humans were lactose intolerant. What was not known was just how recently lactose tolerance evolved.

Dr Thomas said: "To go from lactose tolerance being rare or absent seven to eight thousand years ago to the commonality we see today in central and northern Europeans just cannot be explained by anything except strong natural selection. Our study confirms that the variant of the lactase gene appeared very recently in evolutionary terms and that it became common because it gave its carriers a massive survival advantage. Scientists have inferred this already through analysis of genes in today's population but we've confirmed it by going back and looking at ancient DNA."

This study challenges the theory that certain groups of Europeans were lactose tolerant and that this inborn ability led the community to pursue dairy farming. Instead, they actually evolved their tolerance of milk within the last 8000 years due to exposure to milk.

Dr Thomas said: "There were two theories out there: one that lactose tolerance led to dairy farming and another that exposure to milk led to the evolution of lactose tolerance. This is a simple chicken or egg question but one that is very important to archaeologists, anthropologists and evolutionary biologists. We found that the lactose tolerance variant of the lactase gene only became common after dairy farming, which started around 9 thousand years ago in Europe.

"This is just one part of the picture researchers are gathering about lactose tolerance and the origins of Europeans. Next on the list is why there is such disparity in lactose tolerance between populations. It's striking, for example, that today around eighty per cent of southern Europeans cannot tolerate lactose even though the first dairy farmers in Europe probably lived in those areas. Through computer simulations and DNA testing we are beginning to get glimpses of the bigger early European picture."

UPDATE: abstract (1 March)

Proc. Natl. Acad. Sci. USA, 10.1073/pnas.0607187104

bsence of the lactase-persistence-associated allele in early Neolithic Europeans

J. Burger et al.

Lactase persistence (LP), the dominant Mendelian trait conferring the ability to digest the milk sugar lactose in adults, has risen to high frequency in central and northern Europeans in the last 20,000 years. This trait is likely to have conferred a selective advantage in individuals who consume appreciable amounts of unfermented milk. Some have argued for the "culture-historical hypothesis," whereby LP alleles were rare until the advent of dairying early in the Neolithic but then rose rapidly in frequency under natural selection. Others favor the "reverse cause hypothesis," whereby dairying was adopted in populations with preadaptive high LP allele frequencies. Analysis based on the conservation of lactase gene haplotypes indicates a recent origin and high selection coefficients for LP, although it has not been possible to say whether early Neolithic European populations were lactase persistent at appreciable frequencies. We developed a stepwise strategy for obtaining reliable nuclear ancient DNA from ancient skeletons, based on (i) the selection of skeletons from archaeological sites that showed excellent biomolecular preservation, (ii) obtaining highly reproducible human mitochondrial DNA sequences, and (iii) reliable short tandem repeat (STR) genotypes from the same specimens. By applying this experimental strategy, we have obtained high-confidence LP-associated genotypes from eight Neolithic and one Mesolithic human remains, using a range of strict criteria for ancient DNA work. We did not observe the allele most commonly associated with LP in Europeans, thus providing evidence for the culture-historical hypothesis, and indicating that LP was rare in early European farmers.

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