Germline correction of an epimutation related to Silver-Russell syndrome.
Fiche publication
Date publication
juin 2015
Journal
Human molecular genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr FAUQUE Patricia
Tous les auteurs :
Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc'his D, Fauque P
Lien Pubmed
Résumé
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has important implication for genetic counseling.
Mots clés
Adult, CpG Islands, DNA Methylation, Epigenesis, Genetic, Exome, Female, Gene Expression Regulation, Gene Order, Genetic Loci, Genomic Imprinting, Germ Cells, metabolism, High-Throughput Nucleotide Sequencing, Humans, Male, Phenotype, Promoter Regions, Genetic, RNA, Long Noncoding, genetics, Silver-Russell Syndrome, diagnosis
Référence
Hum. Mol. Genet.. 2015 Jun 15;24(12):3314-21