ArticleNature communications2021
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- Exploring potential transcription factors and their regulatory relationships based on asymmetric covariance natural vector encoding method and machine learning algorithms.Briefings in bioinformatics · 2026Article
- LYCEUM: learning to call copy number variants on low-coverage ancient genomes.Bioinformatics (Oxford, England) · 2025Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Addressing Technical Pitfalls in Pursuit of Molecular Factors That Mediate Immunoglobulin Gene Regulation.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- TCAF1 promotes TRPV2-mediated CaNature communications · 2024Article
- Article
- Review
- Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall.Genome research · 2023Article
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations.eLife · 2023Article
- Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.bioRxiv : the preprint server for biology · 2023Article
- Structurally divergent and recurrently mutated regions of primate genomes.bioRxiv : the preprint server for biology · 2023Article
- PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.Nucleic acids research · 2023Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
TRP channel-associated factor 1/2 (TCAF1/TCAF2) proteins antagonistically regulate the cold-sensor protein TRPM8 in multiple human tissues. Understanding their significance has been complicated given the locus spans a gap-ridden region with complex segmental duplications in GRCh38. Using long-read sequencing, we sequence-resolve the locus, annotate full-length TCAF models in primate genomes, and show substantial human-specific TCAF copy number variation. We identify two human super haplogroups, H4 and H5, and establish that TCAF duplications originated ~1.7 million years ago but diversified only in Homo sapiens by recurrent structural mutations. Conversely, in all archaic-hominin samples the fixation for a specific H4 haplotype without duplication is likely due to positive selection. Here, our results of TCAF copy number expansion, selection signals in hominins, and differential TCAF2 expression between haplogroups and high TCAF2 and TRPM8 expression in liver and prostate in modern-day humans imply TCAF diversification among hominins potentially in response to cold or dietary adaptations.
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Registered trials
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