Journal ArticleDOI
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
C Gicquel,Sylvie Rossignol,Sylvie Cabrol,Muriel Houang,Virginie Steunou,Véronique Barbu,Fabienne Danton,Nathalie Thibaud,Martine Le Merrer,Lydie Burglen,Anne-Marie Bertrand,Irène Netchine,Yves Le Bouc +12 more
Reads0
Chats0
TLDR
Findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS.Abstract:
Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. SRS is genetically heterogenous with maternal uniparental disomy with respect to chromosome 7 occurring in approximately 10% of affected individuals. Given the crucial role of the 11p15 imprinted region in the control of fetal growth, we hypothesized that dysregulation of genes at 11p15 might be involved in syndromic intrauterine growth retardation. We identified an epimutation (demethylation) in the telomeric imprinting center region ICR1 of the 11p15 region in several individuals with clinically typical SRS. This epigenetic defect is associated with, and probably responsible for, relaxation of imprinting and biallelic expression of H19 and downregulation of IGF2. These findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS.read more
Citations
More filters
Journal ArticleDOI
Child health, developmental plasticity, and epigenetic programming.
Zeev Hochberg,Robert Feil,M. Constancia,Mario F. Fraga,Claudine Junien,Jean-Claude Carel,P. Boileau,Y. Le Bouc,Cheri Deal,Karen A. Lillycrop,R. Scharfmann,Allan Sheppard,Michael K. Skinner,Moshe Szyf,Robert A. Waterland,David J. Waxman,E. Whitelaw,Ken K. Ong,Kerstin Albertsson-Wikland +18 more
TL;DR: Translational epigenetic research in child health is a reiterative process that ranges from research in the basic sciences, preclinical research, and pediatric clinical research and creates potential applications in clinical practice: the development of epigenetic biomarkers for early diagnosis of disease, the ability to identify susceptible individuals at risk for adult diseases, and theDevelopment of novel preventive and curative measures that are based on diet and/or novel epigenetic drugs.
Journal ArticleDOI
The H19 locus: Role of an imprinted non‐coding RNA in growth and development
TL;DR: This first in vivo evidence of a functional role for the H19 locus provides new insights into how genomic imprinting helps to control embryonic growth.
Journal ArticleDOI
Small for Gestational Age: Short Stature and Beyond
TL;DR: There is evidence to suggest that some of the metabolic consequences of intrauterine growth retardation in children born SGA can be mitigated by ensuring early appropriate catch-up growth, while avoiding excessive weight gain.
Journal ArticleDOI
H19 acts as a trans regulator of the imprinted gene network controlling growth in mice
Anne Gabory,Marie-Anne Ripoche,Anne Le Digarcher,Françoise Watrin,Ahmed Ziyyat,Thierry Forné,Hélène Jammes,Justin F. X. Ainscough,M. Azim Surani,Laurent Journot,Luisa Dandolo +10 more
TL;DR: It is proposed that the H19 gene participates as a trans regulator in the fine-tuning of this imprinted gene network in the mouse embryo, which is the first in vivo evidence of a functional role for the H 19 RNA.
Journal ArticleDOI
Trim28 Is Required for Epigenetic Stability During Mouse Oocyte to Embryo Transition
Daniel M. Messerschmidt,Wilhelmine N. de Vries,Mitsuteru Ito,Davor Solter,Anne C. Ferguson-Smith,Barbara B. Knowles +5 more
TL;DR: The results reveal the long-range effects of a maternal gene deletion on epigenetic memory and illustrate the delicate equilibrium of maternal and zygotic factors during nuclear reprogramming.
References
More filters
Journal ArticleDOI
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
Adam C. Bell,Gary Felsenfeld +1 more
TL;DR: The results reveal that DNA methylation can control gene expression by modulating enhancer access to the gene promoter through regulation of an enhancer boundary.
Journal ArticleDOI
A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting.
TL;DR: Germ-line transmission of the inactivated IGF-II gene from male chimaeras yielded heterozygous progeny that were smaller than their ES cell-derived wild-type littermates (about 60% of normal body weight) and these growth-deficient animals were otherwise apparently normal and fertile.
Journal ArticleDOI
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
Amy T. Hark,Christopher J. Schoenherr,David J. Katz,Robert S. Ingram,John Levorse,Shirley M. Tilghman +5 more
TL;DR: It is shown that CTCF, a zinc finger protein implicated in vertebrate boundary function, binds to several sites in the unmethylated imprinted-control region that are essential for enhancer blocking, the first example, to the authors' knowledge, of a regulated chromatin boundary in vertebrates.
Journal ArticleDOI
The product of the H19 gene may function as an RNA.
TL;DR: It is suggested that the H19 RNA, which is transcribed by RNA polymerase II and is spliced and polyadenylated, is not a classical mRNA but may be an RNA molecule.
Journal ArticleDOI
Bisulfite genomic sequencing: systematic investigation of critical experimental parameters
TL;DR: This work determined the influence of incubation time and incubation temperature on the deamination efficiency and measured the degree of DNA degradation during the bisulfite treatment and found that maximum conversion rates of cytosine occurred at 55 degrees C and 95 degrees C.
Related Papers (5)
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
Adam C. Bell,Gary Felsenfeld +1 more