The impact of growth hormone receptor variants and growth and birth weight

The growth hormone receptor is a key mediator of human growth. This receptor consists of three domains, and we have investigated two amino acid changes located in the intracellular domain, the region responsible for connecting the receptor to downstream signalling pathways. Our experimental data indicate that one of these two amino acid changes results in increased signalling activity. The genetic variant responsible for this amino acid substitution is particularly common among individuals of South Asian ancestry. An intriguing aspect of this genetic variant is that it was inherited from Neanderthals. Additional analyses using biobank data support an association of this variant with increased adult height and greater muscle mass.