ArticlePloS one2008
Parallel selection on TRPV6 in human populations.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 46 citations in OpenAlex.
- Not by Selection Alone: Expanding the Scope of Gene-Culture Coevolution.Evolutionary anthropology · 2025Review
- Structure-function analyses of human TRPV6 ancestral and derived haplotypes.Structure (London, England : 1993) · 2025Article
- Calcium selective channel TRPV6: Structure, function, and implications in health and disease.Gene · 2022Review
- Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.The journal of physiological sciences : JPS · 2020Article
- TRPV6 as A Target for Cancer Therapy.Journal of Cancer · 2020Review
- Adaptive Landscape of Protein Variation in Human Exomes.Molecular biology and evolution · 2018Article
- TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.American journal of human genetics · 2018Article
- FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.Genome biology · 2018Article
- Recent human adaptation: genomic approaches, interpretation and insights.Nature reviews. Genetics · 2013Review
- Omics technologies and the study of human ageing.Nature reviews. Genetics · 2013Review
- Lead, calcium uptake, and related genetic variants in association with renal cell carcinoma risk in a cohort of male Finnish smokers.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2012Article
- Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.Investigative genetics · 2011Article
- Intracellular ATP supports TRPV6 activity via lipid kinases and the generation of PtdIns(4,5) P₂.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2011Article
- The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups.European journal of human genetics : EJHG · 2011Article
- Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.PloS one · 2011Article
- Larger mitochondrial DNA than Y-chromosome differences between matrilocal and patrilocal groups from Sumatra.Nature communications · 2011Article
- Transient receptor potential channelopathies.Pflugers Archiv : European journal of physiology · 2010Review
- Colloquium paper: gene-culture coevolution in the age of genomics.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Genetic variation and recent positive selection in worldwide human populations: evidence from nearly 1 million SNPs.PloS one · 2009Article
- TRPV6 alleles do not influence prostate cancer progression.BMC cancer · 2009Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We identified and examined a candidate gene for local directional selection in Europeans, TRPV6, and conclude that selection has acted on standing genetic variation at this locus, creating parallel soft sweep events in humans. A novel modification of the extended haplotype homozygosity (EHH) test was utilized, which compares EHH for a single allele across populations, to investigate the signature of selection at TRPV6 and neighboring linked loci in published data sets for Europeans, Asians and African-Americans, as well as in newly-obtained sequence data for additional populations. We find that all non-African populations carry a signature of selection on the same haplotype at the TRPV6 locus. The selective footprints, however, are significantly differentiated between non-African populations and estimated to be younger than an ancestral population of non-Africans. The possibility of a single selection event occurring in an ancestral population of non-Africans was tested by simulations and rejected. The putatively-selected TRPV6 haplotype contains three candidate sites for functional differences, namely derived non-synonymous substitutions C157R, M378V and M681T. Potential functional differences between the ancestral and derived TRPV6 proteins were investigated by cloning the ancestral and derived forms, transfecting cell lines, and carrying out electrophysiology experiments via patch clamp analysis. No statistically-significant differences in biophysical channel function were found, although one property of the protein, namely Ca(2+) dependent inactivation, may show functionally relevant differences between the ancestral and derived forms. Although the reason for selection on this locus remains elusive, this is the first demonstration of a widespread parallel selection event acting on standing genetic variation in humans, and highlights the utility of between population EHH statistics.
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