About: A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis

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About: A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis
Creator	Bresolin, N Cagliani, R Comi, G Fumagalli, M Pozzoli, U Sanna, S Agliardi, C Clerici, M Cucca, F Dubois, B Fenoglio, C Forni, D Galimberti, D Goris, A Guerini, F Marini, F Pitzalis, M Riva, S Scarpini, E Sironi, M Zara, I Zoledziewska, M
Source	Medline; PMC
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.
has issue date	2012-01-06(xsd:dateTime)
bibo:doi	10.1093/molbev/mss002
bibo:pmid	22319148
has license	no-cc
sha1sum (hex)	89a2d01d93da94d16b2a18364313d7ac8df74994
schema:url	https://doi.org/10.1093/molbev/mss002
resource representing a document's title	A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis
has PubMed Central identifier	PMC7187542
has PubMed identifier	22319148
schema:publication	Mol Biol Evol
resource representing a document's body	covid:89a2d01d93da94d16b2a18364313d7ac8df74994#body_text
is schema:about of	named entity 'estimated' named entity 'protein' named entity 'susceptibility' named entity 'Belgium' named entity 'mainland' named entity 'Sardinians' named entity 'associates' named entity 'segregate' named entity 'POSSIBLY' named entity 'SITE' named entity 'TRANS' named entity 'MASKING' named entity 'ZC3HAV1' named entity 'MORE THAN' named entity 'coding' named entity 'Genomes' named entity 'polymorphisms' named entity 'confidence intervals' named entity 'population' named entity 'case-control study' named entity 'Pan troglodytes' named entity 'cases' named entity 'odds ratio' named entity 'independently' named entity 'probability' named entity 'located' named entity 'nonsynonymous substitution' named entity 'human' named entity 'chimpanzee' named entity 'Selection' named entity 'evidences' named entity 'Pan troglodytes' named entity 'low-coverage' named entity 'Belgium' named entity 'environmental factors' named entity 'splicing' named entity 'Italy' named entity 'odds ratio' named entity 'balancing selection' named entity 'case-control study' named entity 'PARP' named entity 'SNP' named entity 'chimpanzee' named entity 'speciation' named entity 'isoform' named entity 'ZC3HAV1' named entity 'antiviral' named entity 'major histocompatibility complex' named entity 'Balancing Selection' named entity 'Polymorphism' named entity 'selection' named entity 'Genetics' named entity 'magnetic resonance imaging' named entity 'trans' named entity 'Barreiro' named entity 'SNP' named entity 'loci' named entity 'alleles' named entity 'primers' named entity 'trans'

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