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the mitochondrial genome is unique inherited only through the mother, is small in size, and has a high mutation rate. Researchers Longli Kang, Li Jin et al. have sequenced 76 Sherpa individuals' complete mitochondrial genomes living in Zhangmu Town, Tibet, and found two mutations that were specific to the Sherpa population. The authors suggest that variants for one recent mutation in particular that was introduced into the Sherpa population about 1,500 years ago, A4e3a, that may be an important adaptation for low oxygen environments, or hypoxic conditions. This mutation is found in an "entry enzyme" stage in the mitochondrial respiratory complex, which may explain the importance of the role of mitochondria in the Sherpa population's ability to adapt to the extreme Himalayan environment.

The authors also shed light on the demographic history of Sherpa population size over evolutionary time, showing a significant expansion from 3,000 to 23,000 around 50,000 years ago, followed by a very recent bottleneck in the past several hundred years that reduced the population from 10,000 to 2,400, matching known historical migration patterns.

Media source:

Prof. Li Jin
Ministry of Education Key Laboratory of Contemporary Anthropology and Center for Evolutionary Biology,
School of Life Sciences and Institutes of Biomedical Sciences,
Fudan University, Shanghai, China.

To access the online article:


Contact: Joe Caspermeyer
Molecular Biology and Evolution (Oxford University Press)

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