ArticleNature communications2015
Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- The human genome harbours widespread exclusive yin yang haplotypes.European journal of human genetics : EJHG · 2024Article
- Article
- Data Integration in Poplar: 'Omics Layers and Integration Strategies.Frontiers in genetics · 2019Review
- Genetic effects influencing risk for major depressive disorder in China and Europe.Translational psychiatry · 2017Article
- Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.G3 (Bethesda, Md.) · 2016Article
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Authors and funding
3 authors at 1 institution in 1 country.
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Abstract
Gephyrin is a highly conserved gene that is vital for the organization of proteins at inhibitory receptors, molybdenum cofactor biosynthesis and other diverse functions. Its specific function is intricately regulated and its aberrant activities have been observed for a number of human diseases. Here we report a remarkable yin-yang haplotype pattern encompassing gephyrin. Yin-yang haplotypes arise when a stretch of DNA evolves to present two disparate forms that bear differing states for nucleotide variations along their lengths. The gephyrin yin-yang pair consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution. Several independent lines of evidence indicate strong positive selection on the region and suggest these high-frequency haplotypes represent two distinct functional mechanisms. This discovery holds potential to deepen our understanding of variable human-specific regulation of gephyrin while providing clues for rapid evolutionary events and allelic migrations buried within human history.
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