John Campbell on An Interesting Thing About Haemaglobin



High-altitude natives are an exceptional model for understanding the genetic and physiological bases of evolutionary adaptation. Species that are broadly distributed across altitudes can provide powerful insight into the genetic basis of high-altitude adaptation, because it is possible to examine segregating variation for phenotypes that may contribute to hypoxia tolerance. Recent research has identified many genes that appear to have experienced selection in high-altitude taxa, including genes thought to be involved in O2 transport, energy metabolism and hypoxia signalling (Simonson, 2015; Simonson et al., 2012; Storz and Cheviron, 2021). However, in most cases, the specific effects of these genetic variants on physiological function are poorly understood. … Identifying these functional effects has the potential to uncover novel and adaptive physiological mechanisms, given the growing appreciation that protein variants can have auxiliary effects that are unrelated to the ‘canonical’ function of the protein in question (Marden, 2013a).

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