ArticleMolecular biology and evolution2012
A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.
Article in Molecular biology and evolution, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Article
- Versatility of the Zinc-Finger Antiviral Protein (ZAP) As a Modulator of Viral Infections.International journal of biological sciences · 2024Review
- Association of ZC3HAV1 single nucleotide polymorphisms with the susceptibility of Vogt-Koyanagi-Harada Disease.BMC medical genomics · 2023Article
- Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees.BMC ecology and evolution · 2022Article
- Large-scale fungal strain sequencing unravels the molecular diversity in mating loci maintained by long-term balancing selection.PLoS genetics · 2022Article
- Trans-specific polymorphism and the convergent evolution of supertypes in major histocompatibility complex class II genes in darters (Ecology and evolution · 2022Article
- Article
- Understanding rare and common diseases in the context of human evolution.Genome biology · 2016Review
- Article
- Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.Human genomics · 2015Review
- Structural basis for lack of ADP-ribosyltransferase activity in poly(ADP-ribose) polymerase-13/zinc finger antiviral protein.The Journal of biological chemistry · 2015Article
- Article
- What can cross-cultural correlations teach us about human nature?Human nature (Hawthorne, N.Y.) · 2014Article
- Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors.Genome biology and evolution · 2014Article
- Nonhuman primate models in the genomic era: a paradigm shift.ILAR journal · 2013Review
- Progress in multiple sclerosis genetics.Current genomics · 2012Article
- Article
Corrections and comments
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Authors and funding
22 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human ZC3HAV1 gene encodes an antiviral protein. The longest splicing isoform of ZC3HAV1 contains a C-terminal PARP-like domain, which has evolved under positive selection in primates. We analyzed the evolutionary history of this same domain in humans and in Pan troglodytes. We identified two variants that segregate in both humans and chimpanzees; one of them (rs3735007) does not occur at a hypermutable site and accounts for a nonsynonymous substitution (Thr851Ile). The probability that the two trans-specific polymorphisms have occurred independently in the two lineages was estimated to be low (P = 0.0054), suggesting that at least one of them has arisen before speciation and has been maintained by selection. Population genetic analyses in humans indicated that the region surrounding the shared variants displays strong evidences of long-standing balancing selection. Selection signatures were also observed in a chimpanzee population sample. Inspection of 1000 Genomes data confirmed these findings but indicated that search for selection signatures using low-coverage whole-genome data may need masking of repetitive sequences. A case-control study of more than 1,000 individuals from mainland Italy indicated that the Thr851Ile SNP is significantly associated with susceptibility to multiple sclerosis (MS) (odds ratio [OR] = 1.47, 95% confidence intervals [CI]: 1.08-1.99, P = 0.011). This finding was confirmed in a larger sample of 4,416 Sardinians cases/controls (OR = 1.18, 95% CI: 1.037-1.344, P = 0.011), but not in a population from Belgium. We provide one of the first instances of human/chimpanzee trans-specific coding variant located outside the major histocompatibility complex region. The selective pressure is likely to be virus driven; in modern populations, this variant associates with susceptibility to MS, possibly via the interaction with environmental factors.
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