期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 112, 期 45, 页码 13958-13963出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1507300112
关键词
biochemical adaptation; hemoglobin; high altitude; hypoxia; mutation bias
资金
- Frank M. Chapman Fund of the American Museum of Natural History
- Department of Animal Biology, University of Illinois
- National Institutes of Health/National Heart, Lung, and Blood Institute [HL087216]
- National Science Foundation [IOS-0949931, IOS-1354390, MCB-1517636, IOS-1354934, DEB-1146491, MCB-1516660]
- Danish Council for Independent Research, Natural Sciences [10-084-565]
- Faculty of Science and Technology, Aarhus University
- Direct For Biological Sciences
- Division Of Environmental Biology [1146491] Funding Source: National Science Foundation
- Direct For Biological Sciences
- Div Of Molecular and Cellular Bioscience [1517636] Funding Source: National Science Foundation
- Office Of The Director
- Office of Integrative Activities [1443108] Funding Source: National Science Foundation
A key question in evolutionary genetics is why certain mutations or certain types of mutation make disproportionate contributions to adaptive phenotypic evolution. In principle, the preferential fixation of particular mutations could stem directly from variation in the underlying rate of mutation to function-altering alleles. However, the influence of mutation bias on the genetic architecture of phenotypic evolution is difficult to evaluate because data on rates of mutation to function-altering alleles are seldom available. Here, we report the discovery that a single point mutation at a highly mutable site in the beta(A)-globin gene has contributed to an evolutionary change in hemoglobin (Hb) function in high-altitude Andean house wrens (Troglodytes aedon). Results of experiments on native Hb variants and engineered, recombinant Hb mutants demonstrate that a nonsynonymous mutation at a CpG dinucleotide in the beta(A)-globin gene is responsible for an evolved difference in Hb-O-2 affinity between high-and low-altitude house wren populations. Moreover, patterns of genomic differentiation between high-and low-altitude populations suggest that altitudinal differentiation in allele frequencies at the causal amino acid polymorphism reflects a history of spatially varying selection. The experimental results highlight the influence of mutation rate on the genetic basis of phenotypic evolution by demonstrating that a large-effect allele at a highly mutable CpG site has promoted physiological differentiation in blood O-2 transport capacity between house wren populations that are native to different elevations.
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