0000000000425043

AUTHOR

Sandrine Barbaux

0000-0002-8204-1855

showing 3 related works from this author

The Gpr1/Zdbf2 locus provides new paradigms for transient and dynamic genomic imprinting in mammals

2014

Many loci maintain parent-of-origin DNA methylation only briefly after fertilization during mammalian development: Whether this form of transient genomic imprinting can impact the early embryonic transcriptome or even have life-long consequences on genome regulation and possibly phenotypes is currently unknown. Here, we report a maternal germline differentially methylated region (DMR) at the mouse Gpr1/Zdbf2 (DBF-type zinc finger-containing protein 2) locus, which controls the paternal-specific expression of long isoforms of Zdbf2 (Liz) in the early embryo. This DMR loses parental specificity by gain of DNA methylation at implantation in the embryo but is maintained in extraembryonic tissue…

Male[SDV]Life Sciences [q-bio]Locus (genetics)Receptors G-Protein-CoupledEvolution MolecularHistonesGenomic ImprintingMice03 medical and health sciences0302 clinical medicineGeneticsAnimalsHumansEpigeneticsImprinting (psychology)Promoter Regions GeneticSpermatogenesisEmbryonic Stem Cells030304 developmental biologyMammalsGenetics0303 health sciencesbiologyGene Expression Regulation DevelopmentalDNA MethylationEmbryonic stem cellHistoneDNA methylationbiology.proteinFemaleGenomic imprintingReprogramming030217 neurology & neurosurgeryResearch PaperDevelopmental BiologyGenes & Development
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SELPLG Gene Polymorphisms in Relation to Plasma SELPLG Levels and Coronary Artery Disease

2003

P-selectin and P-selectin glycoprotein ligand (SELPLG, selectin P ligand) constitute a receptor/ligand complex that is likely to be involved in the development of atherosclerosis and its complications. While the genetic variability of P-selectin has already been investigated in depth, that of the SELPLG gene has not yet been extensively explored. The coding and regulatory sequences of the SELPLG were screened and nine polymorphisms were identified. The identified polymorphisms were genotyped in the AtheroGene study, a case-control study of coronary artery disease (CAD). Haplotype analysis revealed that two polymorphisms of SELPLG, the M62I and the VNTR, independently influenced plasma SELPL…

AdultMalemedicine.medical_specialtyP-selectinEnzyme-Linked Immunosorbent AssayCoronary Artery DiseaseBiologyLigandsPolymerase Chain ReactionCoronary artery diseaseGene FrequencySELPLG GeneInternal medicineGeneticsmedicineHumansGenetic variabilityReceptorGenePolymorphism Single-Stranded ConformationalTriglyceridesGenetics (clinical)GeneticsMembrane GlycoproteinsPolymorphism GeneticHaplotypemedicine.diseaseP-SelectinCholesterolEndocrinologyHaplotypesRegulatory sequenceFemaleAnnals of Human Genetics
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Differential haplotypic expression of the interleukin-18 gene

2007

Interleukin 18 (IL-18) is suspected to play an important role in atherosclerosis and plaque vulnerability. We had previously shown that haplotypes combining two IL18 gene polymorphisms in complete linkage disequilibrium, C-105T (rs360717) in 5'-untranslated region (UTR) and A+183G (rs5744292) in 3'-UTR, were related to IL-18 circulating levels and cardiovascular outcome, the C(-105) G(+183) haplotype being associated with lower IL-18 levels and lower cardiovascular risk. This study was aimed at investigating the functional role of the two polymorphisms and their haplotypes on IL18 expression levels. Allelic imbalance experiments conducted in 24 and 20 subjects heterozygous for the C-105T an…

Untranslated regionPolymorphism GeneticHaplotypeInterleukin-18BiologyMolecular biologyGene Expression RegulationHaplotypesCardiovascular DiseasesPolymorphism (computer science)Allelic ImbalanceGene expressionGeneticsHumansInterleukin 18Prospective StudiesAlleleGeneGenetics (clinical)European Journal of Human Genetics
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