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Neanderthal genes control human gene expression

27 February 2017

By Annabel Slater and Ari Haque

Appeared in BioNews 890

Neanderthal DNA is still involved in controlling a range of traits in modern humans.

Around two to five percent of modern European DNA contains Neanderthal genes, thought to be the result of humans-Neanderthal interbreeding some 50,000 years ago. Now scientists at the University of Washington have found evidence that this Neanderthal DNA affects genetic expression related to certain traits and disease susceptibility.

'Hybridisation wasn't just something that happened 50,000 years ago that we don't have to worry about anymore,' said Joshua Akey of the University of Washington, who led the study, to the IB Times. 'Those little bits and pieces, our Neanderthal relics, are influencing gene expression in pervasive and important ways.'

The Neanderthal genome was mapped in 2008. Previous studies have found links between Neanderthal genes and certain traits, yet working out how these genes functioned compared to modern human counterparts has been challenging.

The scientists used data from the Genotype Tissue Expression Project, which indicates levels of gene activity in individual human tissues. They compared individuals with one human and one Neanderthal copy of any given gene to individuals with two human alleles of the same gene. They analysed differences in gene expression in 52 types of human tissue from 214 individuals of European heritage. Differences were found in a quarter of tissues.

The researchers say this shows Neanderthal genes still affect a diverse range of tissue functions in the body, including dictating which variants of protein are produced. For example Neanderthal DNA was shown to control one such gene, ADAMTSL3, in a way that would reduce the risk of schizophrenia and increase height.

Tissues showing the lowest levels of Neanderthal gene expression included the testes, and brain regions involved in fine motor control, perception and language processing.

'The finding that these Neanderthal variants tend to have lower activity in brains and testes is intriguing, as it offers hints on which aspects of biology diverged most rapidly between Neanderthals and us,' said Sriram Sankararaman of the University of California, who was not involved in the study.

The authors suggest that a loss of control by Neanderthal DNA over gamete formation coincided with the decline in human-Neanderthal interbreeding.

The group may next investigate whether interbreeding with other species of hominins has contributed to gene expression in modern humans. They say their technique could also be used to compare gene expression differences between modern human alleles.

New Scientist | 23 February 2017
International Business Times | 23 February 2017
Cell | 23 February 2017
Eurekalert (press release) | 23 February 2017


14 November 2016 - by Matthew Thomas 
The process of natural selection has removed the majority of Neanderthal DNA from the modern human genome, leaving behind a handful of beneficial genes, two recent studies have suggested...
22 February 2016 - by Isobel Steer 
Neanderthal-derived DNA influences our risk of certain diseases, including addiction, blood clots, skin conditions and depression, a recent study has found....
03 February 2014 - by Dr Anna Cauldwell 
Genes linked with type 2 diabetes, Crohn's disease and even smoking addiction were acquired through interbreeding with Neanderthals, a study published in Nature suggests...
30 August 2011 - by Dr Kimberley Bryon-Dodd 
Cross-breeding with early humans was highly advantageous to the modern human immune system, according to a new study published in Science...

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