Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.

ABSTRACT: Rainforest hunter-gatherers from Southeast Asia are characterized by specific morphological features including a particularly dark skin color (D), short stature (S), woolly hair (W), and the presence of steatopygia (S)-fat accumulation localized in the hips (DSWS phenotype). Based on previous evidence in the Andamanese population, we first characterized signatures of adaptive natural selection around the calcium-sensing receptor gene in Southeast Asian rainforest groups presenting the DSWS phenotype and identified the R990G substitution (rs1042636) as a putative adaptive variant for experimental follow-up. Although the calcium-sensing receptor has a critical role in calcium homeostasis by directly regulating the parathyroid hormone secretion, it is expressed in different tissues and has be

SUBMITTER: Sinigaglia B 

PROVIDER: S-EPMC10859840 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature