Neanderthal DNA: Insights into Human Evolution and Health

Recent studies reveal significant insights into the genetic relationship between modern humans and Neanderthals. Research indicates that Neanderthal DNA influences various traits in contemporary humans, suggesting a complex interplay between ancient and modern genomes.

Neanderthals, once thought to be primitive, demonstrated advanced cognitive abilities, including tool-making and symbolic communication. Findings show that individuals with European ancestry may possess elongated skull shapes due to Neanderthal gene variants affecting the expression of UBR4 and PHLPP1 genes, which are involved in neuron production and myelin formation.

In 2016, a study analyzing electronic health records of 28,000 adults of European descent found associations between Neanderthal gene variants and conditions such as depression and actinic keratosis, a skin condition resulting from sun exposure. These associations suggest that certain Neanderthal alleles may contribute to neurological and dermatological phenotypes in modern humans.

Moreover, research indicates that some rare Neanderthal gene variants may predispose individuals to autism. A study examining Neanderthal-derived polymorphisms across three major ethnic groups found that autistic individuals had a higher frequency of rare Neanderthal single nucleotide polymorphisms (SNPs) compared to ethnically matched non-autistic individuals.

These findings underscore the ongoing evolution of our understanding of human ancestry and the genetic legacy of Neanderthals, highlighting their potential impact on contemporary human health and development.

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