Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes
Identifieur interne : 005688 ( Main/Exploration ); précédent : 005687; suivant : 005689Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes
Auteurs : J. Demars [Australie, France] ; C. Gicquel [Australie]Source :
- Clinical Genetics [ 0009-9163 ] ; 2012-04.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Allele, Beckwith-Wiedemann syndrome, Cell biol, Chromatin, Chromatin state, Chromosome, Ctcf, Defect, Deletion, Demars, Diabetes institute, Diabetes mellitus type, Epigenetic, Epigenetic defects, Epigenetics, Exact frequency, Exemplary model, Familial biparental hydatidiform mole, Familial syndrome, Fetal growth disorders, Fetus, Genet, Genetic, Genetic defects, Genetic disturbance, Genetics, Genomic, Genomic imprinting, Gicquel, Growth, Histone, Human, Hypomethylation, Icr1, Icr1 domain, Icr1 gain, Icr2, Icr2 domain, Icr2 loss, Icrs, Igf2, Imprint, Imprinting, Imprinting control region, Imprinting control regions, Imprinting disorders, Locus, Maternal, Maternal allele, Maternally, Methylated, Methylation, Methylation defect, Methylation defects, Multilocus, Multilocus hypomethylation disorder, Mutation, Oocyte, Parental alleles, Paternal, Paternal allele, Paternal transmission, Paternala, Permissive histone marks, Phenotype, Pluripotency, Pluripotency factors, Primordial germ cells, Proc natl acad, Recent studies, Regulatory factor, Repressive histone marks, Reproductive technology, Rossignol, Silver-Russell syndrome, Syndrome, Tndm1, Trans acting regulatory factor, Zygote oocytes.
- Teeft :
- Allele, Cell biol, Chromatin, Chromatin state, Chromosome, Ctcf, Defect, Deletion, Demars, Diabetes institute, Diabetes mellitus type, Epigenetic, Epigenetic defects, Exact frequency, Exemplary model, Familial biparental hydatidiform mole, Familial syndrome, Fetal growth disorders, Genet, Genetic, Genetic defects, Genetic disturbance, Genomic, Genomic imprinting, Gicquel, Histone, Hypomethylation, Icr1, Icr1 domain, Icr1 gain, Icr2, Icr2 domain, Icr2 loss, Icrs, Igf2, Imprint, Imprinting, Imprinting control region, Imprinting control regions, Imprinting disorders, Locus, Maternal, Maternal allele, Maternally, Methylated, Methylation, Methylation defect, Methylation defects, Multilocus, Multilocus hypomethylation disorder, Mutation, Oocyte, Parental alleles, Paternal, Paternal allele, Paternal transmission, Paternala, Permissive histone marks, Phenotype, Pluripotency, Pluripotency factors, Primordial germ cells, Proc natl acad, Recent studies, Regulatory factor, Repressive histone marks, Reproductive technology, Rossignol, Syndrome, Tndm1, Zygote oocytes.
Abstract
Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes. Genomic imprinting is a particularly attractive example of epigenetic regulation leading to the parental‐origin‐specific expression of genes. In several ways, the 11p15 imprinted region is an exemplary model for regulation of genomic imprinting. The two imprinted domains are controlled by imprinting control regions (ICRs) which carry opposite germ line imprints and they are regulated by two major mechanisms of imprinting control. Dysregulation of 11p15 genomic imprinting results in two fetal growth disorders [Silver–Russell (SRS) and Beckwith–Wiedemann (BWS) syndromes], with opposite growth phenotypes. BWS and SRS result from abnormal imprinting involving either, both domains or only one of them, with ICR1 and ICR2 more often involved in SRS and BWS respectively. DNA methylation defects affecting ICR1 or ICR2 account for approximately 60% of SRS and BWS patients. Recent studies have identified new cis‐acting regulatory elements, as well as new trans‐acting factors involved in the regulation of 11p15 imprinting, therefore establishing new mechanisms of BWS and SRS. Those studies also showed that, apart of CTCF, other transcription factors, including factors of the pluripotency network, play a crucial role in the regulation of 11p15 genomic imprinting. Those new findings have direct consequences in molecular testing, risk assessment and genetic counseling of BWS and SRS patients.
Url:
DOI: 10.1111/j.1399-0004.2011.01822.x
Affiliations:
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unit="issue">4</biblScope><biblScope unit="page" from="350">350</biblScope><biblScope unit="page" to="361">361</biblScope><biblScope unit="page-count">12</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2012-04">2012-04</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term><term>Beckwith-Wiedemann syndrome</term><term>Cell biol</term><term>Chromatin</term><term>Chromatin state</term><term>Chromosome</term><term>Ctcf</term><term>Defect</term><term>Deletion</term><term>Demars</term><term>Diabetes institute</term><term>Diabetes mellitus type</term><term>Epigenetic</term><term>Epigenetic defects</term><term>Epigenetics</term><term>Exact frequency</term><term>Exemplary model</term><term>Familial biparental hydatidiform mole</term><term>Familial syndrome</term><term>Fetal growth disorders</term><term>Fetus</term><term>Genet</term><term>Genetic</term><term>Genetic defects</term><term>Genetic disturbance</term><term>Genetics</term><term>Genomic</term><term>Genomic imprinting</term><term>Gicquel</term><term>Growth</term><term>Histone</term><term>Human</term><term>Hypomethylation</term><term>Icr1</term><term>Icr1 domain</term><term>Icr1 gain</term><term>Icr2</term><term>Icr2 domain</term><term>Icr2 loss</term><term>Icrs</term><term>Igf2</term><term>Imprint</term><term>Imprinting</term><term>Imprinting control region</term><term>Imprinting control regions</term><term>Imprinting disorders</term><term>Locus</term><term>Maternal</term><term>Maternal allele</term><term>Maternally</term><term>Methylated</term><term>Methylation</term><term>Methylation defect</term><term>Methylation defects</term><term>Multilocus</term><term>Multilocus hypomethylation disorder</term><term>Mutation</term><term>Oocyte</term><term>Parental alleles</term><term>Paternal</term><term>Paternal allele</term><term>Paternal transmission</term><term>Paternala</term><term>Permissive histone marks</term><term>Phenotype</term><term>Pluripotency</term><term>Pluripotency factors</term><term>Primordial germ cells</term><term>Proc natl acad</term><term>Recent studies</term><term>Regulatory factor</term><term>Repressive histone marks</term><term>Reproductive technology</term><term>Rossignol</term><term>Silver-Russell syndrome</term><term>Syndrome</term><term>Tndm1</term><term>Trans acting regulatory factor</term><term>Zygote oocytes</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Croissance</term><term>Empreinte génomique</term><term>Epigénétique</term><term>Facteur régulateur trans</term><term>Foetus</term><term>Génétique</term><term>Homme</term><term>Silver-Russell syndrome</term><term>Syndrome de Beckwith et Wiedemann</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Allele</term><term>Cell biol</term><term>Chromatin</term><term>Chromatin state</term><term>Chromosome</term><term>Ctcf</term><term>Defect</term><term>Deletion</term><term>Demars</term><term>Diabetes institute</term><term>Diabetes mellitus type</term><term>Epigenetic</term><term>Epigenetic defects</term><term>Exact frequency</term><term>Exemplary model</term><term>Familial biparental hydatidiform mole</term><term>Familial syndrome</term><term>Fetal growth disorders</term><term>Genet</term><term>Genetic</term><term>Genetic defects</term><term>Genetic disturbance</term><term>Genomic</term><term>Genomic imprinting</term><term>Gicquel</term><term>Histone</term><term>Hypomethylation</term><term>Icr1</term><term>Icr1 domain</term><term>Icr1 gain</term><term>Icr2</term><term>Icr2 domain</term><term>Icr2 loss</term><term>Icrs</term><term>Igf2</term><term>Imprint</term><term>Imprinting</term><term>Imprinting control region</term><term>Imprinting control regions</term><term>Imprinting disorders</term><term>Locus</term><term>Maternal</term><term>Maternal allele</term><term>Maternally</term><term>Methylated</term><term>Methylation</term><term>Methylation defect</term><term>Methylation defects</term><term>Multilocus</term><term>Multilocus hypomethylation disorder</term><term>Mutation</term><term>Oocyte</term><term>Parental alleles</term><term>Paternal</term><term>Paternal allele</term><term>Paternal transmission</term><term>Paternala</term><term>Permissive histone marks</term><term>Phenotype</term><term>Pluripotency</term><term>Pluripotency factors</term><term>Primordial germ cells</term><term>Proc natl acad</term><term>Recent studies</term><term>Regulatory factor</term><term>Repressive histone marks</term><term>Reproductive technology</term><term>Rossignol</term><term>Syndrome</term><term>Tndm1</term><term>Zygote oocytes</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes. Genomic imprinting is a particularly attractive example of epigenetic regulation leading to the parental‐origin‐specific expression of genes. In several ways, the 11p15 imprinted region is an exemplary model for regulation of genomic imprinting. The two imprinted domains are controlled by imprinting control regions (ICRs) which carry opposite germ line imprints and they are regulated by two major mechanisms of imprinting control. Dysregulation of 11p15 genomic imprinting results in two fetal growth disorders [Silver–Russell (SRS) and Beckwith–Wiedemann (BWS) syndromes], with opposite growth phenotypes. BWS and SRS result from abnormal imprinting involving either, both domains or only one of them, with ICR1 and ICR2 more often involved in SRS and BWS respectively. DNA methylation defects affecting ICR1 or ICR2 account for approximately 60% of SRS and BWS patients. Recent studies have identified new cis‐acting regulatory elements, as well as new trans‐acting factors involved in the regulation of 11p15 imprinting, therefore establishing new mechanisms of BWS and SRS. Those studies also showed that, apart of CTCF, other transcription factors, including factors of the pluripotency network, play a crucial role in the regulation of 11p15 genomic imprinting. Those new findings have direct consequences in molecular testing, risk assessment and genetic counseling of BWS and SRS patients.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Victoria (État)</li></region><settlement><li>Melbourne</li></settlement></list><tree><country name="Australie"><region name="Victoria (État)"><name sortKey="Demars, J" sort="Demars, J" uniqKey="Demars J" first="J" last="Demars">J. Demars</name></region><name sortKey="Gicquel, C" sort="Gicquel, C" uniqKey="Gicquel C" first="C" last="Gicquel">C. Gicquel</name><name sortKey="Gicquel, C" sort="Gicquel, C" uniqKey="Gicquel C" first="C" last="Gicquel">C. Gicquel</name><name sortKey="Gicquel, C" sort="Gicquel, C" uniqKey="Gicquel C" first="C" last="Gicquel">C. Gicquel</name></country><country name="France"><noRegion><name sortKey="Demars, J" sort="Demars, J" uniqKey="Demars J" first="J" last="Demars">J. Demars</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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