ArticleProceedings of the National Academy of Sciences of the United States of America2015
Contribution of a mutational hot spot to hemoglobin adaptation in high-altitude Andean house wrens.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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60 citing papers in PubMed, 151 citations in OpenAlex.
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- Mutation-biased adaptation is consequential even in large bacterial populations.Nature communications · 2026Article
- Non-B DNA structures and their contributions to genetic diversity, aging, and disease.Nucleic acids research · 2026Review
- Convergent Evolution and the Epigenome.Epigenomes · 2025Review
- Hypoxia and Tissue Regeneration: Adaptive Mechanisms and Therapeutic Opportunities.International journal of molecular sciences · 2025Review
- Gas exchange, oxygen transport and metabolism in high-altitude waterfowl.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
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- Genomic Variation, Population History, and Long-Term Genetic Adaptation to High Altitudes in Tibetan Partridge (Perdix hodgsoniae).Molecular biology and evolution · 2023Article
- Mutation bias and the predictability of evolution.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- Convergent genomic signatures of local adaptation across a continental-scale environmental gradient.Science advances · 2023Article
- Dynamic alternative DNA structures in biology and disease.Nature reviews. Genetics · 2023Review
- Environmental Adaptation of Genetically Uniform Organisms with the Help of Epigenetic Mechanisms-An Insightful Perspective on Ecoepigenetics.Epigenomes · 2022Review
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- Genetic variation in haemoglobin is associated with evolved changes in breathing in high-altitude deer mice.The Journal of experimental biology · 2022Article
- A New Homotetramer Hemoglobin in the Pulmonary Surfactant of Plateau Zokors (Frontiers in genetics · 2022Article
- Comparative Genomics and Evolution of Avian Specialized Traits.Current genomics · 2021Review
- Protein innovation through template switching in the Saccharomyces cerevisiae lineage.Scientific reports · 2021Article
- A mutational hotspot that determines highly repeatable evolution can be built and broken by silent genetic changes.Nature communications · 2021Article
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10 authors at 4 institutions in 2 countries.
Funding
Abstract
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 β(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 β(A)-globin gene is responsible for an evolved difference in Hb-O2 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 O2 transport capacity between house wren populations that are native to different elevations.
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