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

Barbara Sinigaglia1, Jorge Escudero1, Simone A Biagini1

  • 1Institut de Biologia Evolutiva (UPF-CSIC), Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona 08003, Spain.

Molecular Biology and Evolution
|January 29, 2024
PubMed
Summary
This summary is machine-generated.

Southeast Asian rainforest hunter-gatherers with the DSWS phenotype show adaptive natural selection around the calcium-sensing receptor gene. A specific variant (R990G) in this gene may promote fat accumulation, aiding survival during nutritional stress.

Keywords:
CaSRSE Asian populationsgenetic adaptationpygmy phenotype

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Area of Science:

  • Human evolutionary genetics
  • Physiological adaptations
  • Calcium signaling

Background:

  • Southeast Asian rainforest hunter-gatherers exhibit distinctive traits (DSWS phenotype): dark skin, short stature, woolly hair, and steatopygia.
  • The calcium-sensing receptor gene (CaSR) is crucial for calcium homeostasis and has been implicated in various biological functions.
  • Previous studies identified the R990G substitution (rs1042636) in CaSR as a potential adaptive variant in populations with the DSWS phenotype.

Purpose of the Study:

  • To investigate the adaptive significance of the R990G CaSR variant in Southeast Asian rainforest hunter-gatherers.
  • To explore the physiological effects of the R990G substitution on calcium levels, body weight, and fat accumulation.

Main Methods:

  • Analysis of natural selection signatures around the CaSR gene in relevant human populations.
  • Generation of a knock-in mouse model carrying the R990G CaSR substitution.
  • Phenotypic characterization of the knock-in mice, including serum calcium levels, body weight, and fat composition.

Main Results:

  • The R990G substitution was identified as a putative adaptive variant in Southeast Asian rainforest groups.
  • Homozygous knock-in mice exhibited lower serum calcium concentrations.
  • These mice also showed increased body weight and fat accumulation, linked to enhanced preadipocyte differentiation and impaired lipolysis due to CaSR activation.

Conclusions:

  • The R990G CaSR variant may confer adaptive advantages by influencing metabolism and fat storage.
  • These metabolic changes could have enhanced the survival of rainforest hunter-gatherer groups facing nutritional challenges.
  • The study highlights the role of CaSR in human adaptation to specific environmental conditions.