About: Collaborative Cross Mice Yield Genetic Modifiers for Pseudomonas aeruginosa Infection in Human Lung Disease

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

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Collaborative Cross Mice Yield Genetic Modifiers for Pseudomonas aeruginosa Infection in Human Lung Disease
Creator	Mott, Richard Dorman, Alexandra Bragonzi, Alessandra He, Gengming Sipione, Barbara Atamni, Hanifa Goldberg, Joanna Iraqi, Fuad Lorè, Nicola Strug, Lisa
Source	Medline; PMC
abstract	Human genetics influence a range of pathological and clinical phenotypes in respiratory infections; however, the contributions of disease modifiers remain underappreciated. We exploited the Collaborative Cross (CC) mouse genetic-reference population to map genetic modifiers that affect the severity of Pseudomonas aeruginosa lung infection. Screening for P. aeruginosa respiratory infection in a cohort of 39 CC lines exhibits distinct disease phenotypes ranging from complete resistance to lethal disease. Based on major changes in the survival times, a quantitative-trait locus (QTL) was mapped on murine chromosome 3 to the genomic interval of Mb 110.4 to 120.5. Within this locus, composed of 31 protein-coding genes, two candidate genes, namely, dihydropyrimidine dehydrogenase (Dpyd) and sphingosine-1-phosphate receptor 1 (S1pr1), were identified according to the level of genome-wide significance and disease gene prioritization. Functional validation of the S1pr1 gene by pharmacological targeting in C57BL/6NCrl mice confirmed its relevance in P. aeruginosa pathophysiology. However, in a cohort of Canadian patients with cystic fibrosis (CF) disease, regional genetic-association analysis of the syntenic human locus on chromosome 1 (Mb 97.0 to 105.0) identified two single-nucleotide polymorphisms (rs10875080 and rs11582736) annotated to the Dpyd gene that were significantly associated with age at first P. aeruginosa infection. Thus, there is evidence that both genes might be implicated in this disease. Our results demonstrate that the discovery of murine modifier loci may generate information that is relevant to human disease progression.
has issue date	2020-03-03(xsd:dateTime)
bibo:doi	10.1128/mbio.00097-20
bibo:pmid	32127447
has license	cc-by
sha1sum (hex)	e318909c13dd6bd6c96c47d9e7b7ac1c341936e1
schema:url	https://doi.org/10.1128/mbio.00097-20
resource representing a document's title	Collaborative Cross Mice Yield Genetic Modifiers for Pseudomonas aeruginosa Infection in Human Lung Disease
has PubMed Central identifier	PMC7064750
has PubMed identifier	32127447
schema:publication	mBio
resource representing a document's body	covid:e318909c13dd6bd6c96c47d9e7b7ac1c341936e1#body_text
is schema:about of	named entity 'phenotypes' named entity 'pathological' named entity 'leading' named entity 'lung infection' named entity 'respiratory infections' named entity 'generate' named entity 'times' named entity 'Respiratory infection' named entity 'Within' named entity 'The' named entity 'genetic' named entity 'disease' named entity 'modifiers' named entity 'Mice' named entity 'PSEUDOMONAS AERUGINOSA INFECTION' covid:arg/e318909c13dd6bd6c96c47d9e7b7ac1c341936e1 named entity 'DIFFICULT' named entity 'APPROACHES' named entity 'HEALTH' named entity 'ASSOCIATED WITH' named entity 'INCLUDE' named entity 'LEVEL' named entity 'RESPIRATORY INFECTION' named entity 'BASED' named entity 'DPYD GENE' named entity 'NOVEL' named entity 'TRAIT' named entity 'COMPOSED OF' named entity 'HUMAN' named entity 'PULMONARY FUNCTION' named entity 'EMPLOYED' named entity 'ONE OF' named entity 'INFORMATION' named entity 'POORLY' named entity 'LUNG INFECTION' named entity 'INFECTION' named entity 'PSEUDOMONAS AERUGINOSA' named entity '105' named entity 'GENETIC FACTORS' named entity 'GENES' named entity 'CAUSED BY' named entity 'HUMAN GENETICS' named entity 'RELEVANCE' named entity 'PATIENTS' named entity 'COMPLETE' named entity 'ACCORDING' named entity 'RANGE' named entity 'CYSTIC FIBROSIS' named entity 'PHENOTYPES' named entity 'INFLUENCE' named entity 'RESULTS' named entity 'VALIDATION' named entity 'AFFECTED' named entity 'DIHYDROPYRIMIDINE DEHYDROGENASE' named entity 'SINGLE-NUCLEOTIDE POLYMORPHISMS' named entity 'AFFECT' named entity 'MODIFIER' named entity 'DISEASE GENE' named entity 'EVIDENCE' named entity 'WORLDWIDE' named entity 'TARGETING' named entity 'DISTINCT' named entity 'ANNOTATED' named entity 'MURINE' named entity 'MAPPED' named entity 'DETERIORATION' named entity 'TIMES' named entity 'CRITICAL' named entity 'WIDE' named entity 'UNDERSTANDING' named entity 'CHRONIC' named entity 'HUMAN DISEASE'

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