AustralieFrV1, Main, Exploration, bibRecord, 002135

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Identifieur interne : 002135 ( Main/Exploration ); précédent : 002134; suivant : 002136

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Auteurs : Ricky S. Joshi [États-Unis] ; Paras Garg [États-Unis] ; Noah Zaitlen [États-Unis] ; Tuuli Lappalainen [États-Unis] ; Corey T. Watson [États-Unis] ; Nidha Azam [États-Unis] ; Daniel Ho [États-Unis] ; Xin Li [États-Unis] ; Stylianos E. Antonarakis [Suisse] ; Han G. Brunner [Pays-Bas] ; Karin Buiting [Allemagne] ; Sau Wai Cheung [États-Unis] ; Bradford Coffee [États-Unis] ; Thomas Eggermann [Allemagne] ; David Francis [Australie] ; Joep P. Geraedts [Pays-Bas] ; Giorgio Gimelli [Italie] ; Samuel G. Jacobson [États-Unis] ; Cedric Le Caignec [France] ; Nicole De Leeuw [Pays-Bas] ; Thomas Liehr [Allemagne] ; Deborah J. Mackay [Royaume-Uni] ; Stephen B. Montgomery [États-Unis] ; Alistair T. Pagnamenta [Royaume-Uni] ; Peter Papenhausen [États-Unis] ; David O. Robinson [Royaume-Uni] ; Claudia Ruivenkamp [Pays-Bas] ; Charles Schwartz [États-Unis] ; Bernhard Steiner [Suisse] ; David A. Stevenson [États-Unis] ; Urvashi Surti [États-Unis] ; Thomas Wassink [États-Unis] ; Andrew J. Sharp [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2016.

RBID : PMC:5011056

Descripteurs français

English descriptors

KwdEn :
- Alleles, Angelman Syndrome (genetics), Chromosome Aberrations, Chromosomes, Human (genetics), Chromosomes, Human, Pair 15 (genetics), Cohort Studies, CpG Islands (genetics), DNA Methylation (genetics), Epigenesis, Genetic (genetics), Female, Genome, Human (genetics), Genomic Imprinting (genetics), Humans, Intellectual Disability (genetics), Karyotype, Male, Microtubule-Associated Proteins (genetics), Parents, Prader-Willi Syndrome (genetics), Reproducibility of Results, Sequence Analysis, RNA, Uniparental Disomy (genetics).
MESH :
- chemical , genetics : Microtubule-Associated Proteins.
- genetics : Angelman Syndrome, Chromosomes, Human, Chromosomes, Human, Pair 15, CpG Islands, DNA Methylation, Epigenesis, Genetic, Genome, Human, Genomic Imprinting, Intellectual Disability, Prader-Willi Syndrome, Uniparental Disomy.
- Alleles, Chromosome Aberrations, Cohort Studies, Female, Humans, Karyotype, Male, Parents, Reproducibility of Results, Sequence Analysis, RNA.

Abstract

Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across ∼1.9 Mb of the 15q11–q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011056

DOI: 10.1016/j.ajhg.2016.06.032
PubMed: 27569549
PubMed Central: 5011056

Affiliations:

Le document en format XML

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<affiliation wicri:level="4"><nlm:aff id="aff18">Université de Nantes, Nantes atlantique universités, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Nantes 44035, France</nlm:aff>
<country xml:lang="fr">France</country>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
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<author><name sortKey="Montgomery, Stephen B" sort="Montgomery, Stephen B" uniqKey="Montgomery S" first="Stephen B." last="Montgomery">Stephen B. Montgomery</name>
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<author><name sortKey="Pagnamenta, Alistair T" sort="Pagnamenta, Alistair T" uniqKey="Pagnamenta A" first="Alistair T." last="Pagnamenta">Alistair T. Pagnamenta</name>
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<author><name sortKey="Robinson, David O" sort="Robinson, David O" uniqKey="Robinson D" first="David O." last="Robinson">David O. Robinson</name>
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<author><name sortKey="Ruivenkamp, Claudia" sort="Ruivenkamp, Claudia" uniqKey="Ruivenkamp C" first="Claudia" last="Ruivenkamp">Claudia Ruivenkamp</name>
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<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden</wicri:regionArea>
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<author><name sortKey="Schwartz, Charles" sort="Schwartz, Charles" uniqKey="Schwartz C" first="Charles" last="Schwartz">Charles Schwartz</name>
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<author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
<affiliation wicri:level="4"><nlm:aff id="aff25">Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Lucile Salter Packard Children’s Hospital, 300 Pasteur Drive, Boswell Building A097, Stanford, CA 94304</wicri:regionArea>
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</placeName>
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<author><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name>
<affiliation wicri:level="2"><nlm:aff id="aff27">Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<affiliation wicri:level="4"><nlm:aff id="aff28">Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Iowa, Iowa City, IA 52242</wicri:regionArea>
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<settlement type="city">Iowa City</settlement>
</placeName>
<orgName type="university">Université de l'Iowa</orgName>
</affiliation>
</author>
<author><name sortKey="Sharp, Andrew J" sort="Sharp, Andrew J" uniqKey="Sharp A" first="Andrew J." last="Sharp">Andrew J. Sharp</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome</title>
<author><name sortKey="Joshi, Ricky S" sort="Joshi, Ricky S" uniqKey="Joshi R" first="Ricky S." last="Joshi">Ricky S. Joshi</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Garg, Paras" sort="Garg, Paras" uniqKey="Garg P" first="Paras" last="Garg">Paras Garg</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Zaitlen, Noah" sort="Zaitlen, Noah" uniqKey="Zaitlen N" first="Noah" last="Zaitlen">Noah Zaitlen</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, UCSF MC2552, 1700 4th Street, Byers Hall Suite 503C, San Francisco, CA 94158, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, UCSF MC2552, 1700 4th Street, Byers Hall Suite 503C, San Francisco, CA 94158</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lappalainen, Tuuli" sort="Lappalainen, Tuuli" uniqKey="Lappalainen T" first="Tuuli" last="Lappalainen">Tuuli Lappalainen</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">New York Genome Center, 101 Avenue of the Americas, 7th Floor, New York, NY 10013, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>New York Genome Center, 101 Avenue of the Americas, 7th Floor, New York, NY 10013</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff4">Department of Systems Biology, Columbia University, New York, NY 10032, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Systems Biology, Columbia University, New York, NY 10032</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Watson, Corey T" sort="Watson, Corey T" uniqKey="Watson C" first="Corey T." last="Watson">Corey T. Watson</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Azam, Nidha" sort="Azam, Nidha" uniqKey="Azam N" first="Nidha" last="Azam">Nidha Azam</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ho, Daniel" sort="Ho, Daniel" uniqKey="Ho D" first="Daniel" last="Ho">Daniel Ho</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Xin" sort="Li, Xin" uniqKey="Li X" first="Xin" last="Li">Xin Li</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Departments of Pathology, Genetics and Computer Science, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Pathology, Genetics and Computer Science, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Genetic Medicine and Development, University of Geneva Medical School, 9th Floor, 1 rue Michel-Servet, 1211 Geneva, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, 9th Floor, 1 rue Michel-Servet, 1211 Geneva</wicri:regionArea>
<wicri:noRegion>1211 Geneva</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Buiting, Karin" sort="Buiting, Karin" uniqKey="Buiting K" first="Karin" last="Buiting">Karin Buiting</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstrasse 55, 45122 Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstrasse 55, 45122 Essen</wicri:regionArea>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name>
<affiliation wicri:level="2"><nlm:aff id="aff9">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Coffee, Bradford" sort="Coffee, Bradford" uniqKey="Coffee B" first="Bradford" last="Coffee">Bradford Coffee</name>
<affiliation wicri:level="2"><nlm:aff id="aff10">Emory Genetics Laboratory, Emory University, Atlanta, GA 30033, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Emory Genetics Laboratory, Emory University, Atlanta, GA 30033</wicri:regionArea>
<placeName><region type="state">Géorgie (États-Unis)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name>
<affiliation wicri:level="3"><nlm:aff id="aff11">Institute of Human Genetics, University Hospital, RWTH, 52074 Aachen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital, RWTH, 52074 Aachen</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Francis, David" sort="Francis, David" uniqKey="Francis D" first="David" last="Francis">David Francis</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Geraedts, Joep P" sort="Geraedts, Joep P" uniqKey="Geraedts J" first="Joep P." last="Geraedts">Joep P. Geraedts</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Genetics and Cell Biology, Research Institute GROW, Faculty of Health, Medicine and Life Sciences, Maastricht University, PO Box 5800, Maastricht AZ 6202, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Genetics and Cell Biology, Research Institute GROW, Faculty of Health, Medicine and Life Sciences, Maastricht University, PO Box 5800, Maastricht AZ 6202</wicri:regionArea>
<wicri:noRegion>Maastricht AZ 6202</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gimelli, Giorgio" sort="Gimelli, Giorgio" uniqKey="Gimelli G" first="Giorgio" last="Gimelli">Giorgio Gimelli</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genova</wicri:regionArea>
<wicri:noRegion>16148 Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jacobson, Samuel G" sort="Jacobson, Samuel G" uniqKey="Jacobson S" first="Samuel G." last="Jacobson">Samuel G. Jacobson</name>
<affiliation wicri:level="2"><nlm:aff id="aff15">Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, 51 N. 39th Street, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, 51 N. 39th Street, Philadelphia, PA 19104</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
<affiliation wicri:level="3"><nlm:aff id="aff16">CHU Nantes, Service de Génétique Médicale, Institut de Biologie, 9 quai Moncousu, 44093 Nantes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Nantes, Service de Génétique Médicale, Institut de Biologie, 9 quai Moncousu, 44093 Nantes</wicri:regionArea>
<placeName><region type="region" nuts="2">Pays de la Loire</region>
<settlement type="city">Nantes</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff17">INSERM, UMR 957, Nantes 44035, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR 957, Nantes 44035</wicri:regionArea>
<placeName><region type="region" nuts="2">Pays de la Loire</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff18">Université de Nantes, Nantes atlantique universités, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Nantes 44035, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université de Nantes, Nantes atlantique universités, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Nantes 44035</wicri:regionArea>
<placeName><region type="region" nuts="2">Pays de la Loire</region>
<settlement type="city">Nantes</settlement>
</placeName>
<orgName type="university">Université de Nantes</orgName>
</affiliation>
</author>
<author><name sortKey="De Leeuw, Nicole" sort="De Leeuw, Nicole" uniqKey="De Leeuw N" first="Nicole" last="De Leeuw">Nicole De Leeuw</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liehr, Thomas" sort="Liehr, Thomas" uniqKey="Liehr T" first="Thomas" last="Liehr">Thomas Liehr</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena</wicri:regionArea>
<wicri:noRegion>07743 Jena</wicri:noRegion>
<wicri:noRegion>07743 Jena</wicri:noRegion>
<wicri:noRegion>07743 Jena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mackay, Deborah J" sort="Mackay, Deborah J" uniqKey="Mackay D" first="Deborah J." last="Mackay">Deborah J. Mackay</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Wessex Regional Genetics Laboratory Salisbury District Hospital, Salisbury, Wiltshire SO2 8BJ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Regional Genetics Laboratory Salisbury District Hospital, Salisbury, Wiltshire SO2 8BJ</wicri:regionArea>
<wicri:noRegion>Wiltshire SO2 8BJ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Montgomery, Stephen B" sort="Montgomery, Stephen B" uniqKey="Montgomery S" first="Stephen B." last="Montgomery">Stephen B. Montgomery</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Departments of Pathology, Genetics and Computer Science, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Pathology, Genetics and Computer Science, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pagnamenta, Alistair T" sort="Pagnamenta, Alistair T" uniqKey="Pagnamenta A" first="Alistair T." last="Pagnamenta">Alistair T. Pagnamenta</name>
<affiliation wicri:level="4"><nlm:aff id="aff21">National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN</wicri:regionArea>
<orgName type="university">Université d'Oxford</orgName>
<placeName><settlement type="city">Oxford</settlement>
<region type="nation">Angleterre</region>
<region type="région" nuts="1">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Papenhausen, Peter" sort="Papenhausen, Peter" uniqKey="Papenhausen P" first="Peter" last="Papenhausen">Peter Papenhausen</name>
<affiliation wicri:level="2"><nlm:aff id="aff22">Division of Cytogenetics, LabCorp, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Cytogenetics, LabCorp, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robinson, David O" sort="Robinson, David O" uniqKey="Robinson D" first="David O." last="Robinson">David O. Robinson</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Wessex Regional Genetics Laboratory Salisbury District Hospital, Salisbury, Wiltshire SO2 8BJ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Regional Genetics Laboratory Salisbury District Hospital, Salisbury, Wiltshire SO2 8BJ</wicri:regionArea>
<wicri:noRegion>Wiltshire SO2 8BJ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ruivenkamp, Claudia" sort="Ruivenkamp, Claudia" uniqKey="Ruivenkamp C" first="Claudia" last="Ruivenkamp">Claudia Ruivenkamp</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden</wicri:regionArea>
<wicri:noRegion>2300 RC Leiden</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles" sort="Schwartz, Charles" uniqKey="Schwartz C" first="Charles" last="Schwartz">Charles Schwartz</name>
<affiliation wicri:level="2"><nlm:aff id="aff24">J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
<affiliation wicri:level="4"><nlm:aff id="aff25">Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach</wicri:regionArea>
<orgName type="university">Université de Zurich</orgName>
<placeName><settlement type="city">Zurich</settlement>
<region nuts="3" type="region">Canton de Zurich</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name>
<affiliation wicri:level="2"><nlm:aff id="aff26">Division of Medical Genetics, Lucile Salter Packard Children’s Hospital, 300 Pasteur Drive, Boswell Building A097, Stanford, CA 94304, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Lucile Salter Packard Children’s Hospital, 300 Pasteur Drive, Boswell Building A097, Stanford, CA 94304</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name>
<affiliation wicri:level="2"><nlm:aff id="aff27">Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wassink, Thomas" sort="Wassink, Thomas" uniqKey="Wassink T" first="Thomas" last="Wassink">Thomas Wassink</name>
<affiliation wicri:level="4"><nlm:aff id="aff28">Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Iowa, Iowa City, IA 52242</wicri:regionArea>
<placeName><region type="state">Iowa</region>
<settlement type="city">Iowa City</settlement>
</placeName>
<orgName type="university">Université de l'Iowa</orgName>
</affiliation>
</author>
<author><name sortKey="Sharp, Andrew J" sort="Sharp, Andrew J" uniqKey="Sharp A" first="Andrew J." last="Sharp">Andrew J. Sharp</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Angelman Syndrome (genetics)</term>
<term>Chromosome Aberrations</term>
<term>Chromosomes, Human (genetics)</term>
<term>Chromosomes, Human, Pair 15 (genetics)</term>
<term>Cohort Studies</term>
<term>CpG Islands (genetics)</term>
<term>DNA Methylation (genetics)</term>
<term>Epigenesis, Genetic (genetics)</term>
<term>Female</term>
<term>Genome, Human (genetics)</term>
<term>Genomic Imprinting (genetics)</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Karyotype</term>
<term>Male</term>
<term>Microtubule-Associated Proteins (genetics)</term>
<term>Parents</term>
<term>Prader-Willi Syndrome (genetics)</term>
<term>Reproducibility of Results</term>
<term>Sequence Analysis, RNA</term>
<term>Uniparental Disomy (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes</term>
<term>Allèles</term>
<term>Analyse de séquence d'ARN</term>
<term>Caryotype</term>
<term>Chromosomes humains (génétique)</term>
<term>Chromosomes humains de la paire 15 (génétique)</term>
<term>Disomie uniparentale (génétique)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Empreinte génomique (génétique)</term>
<term>Femelle</term>
<term>Génome humain (génétique)</term>
<term>Humains</term>
<term>Ilots CpG (génétique)</term>
<term>Mâle</term>
<term>Méthylation de l'ADN (génétique)</term>
<term>Parents</term>
<term>Protéines associées aux microtubules (génétique)</term>
<term>Reproductibilité des résultats</term>
<term>Syndrome d'Angelman (génétique)</term>
<term>Syndrome de Prader-Willi (génétique)</term>
<term>Épigenèse génétique (génétique)</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Microtubule-Associated Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Angelman Syndrome</term>
<term>Chromosomes, Human</term>
<term>Chromosomes, Human, Pair 15</term>
<term>CpG Islands</term>
<term>DNA Methylation</term>
<term>Epigenesis, Genetic</term>
<term>Genome, Human</term>
<term>Genomic Imprinting</term>
<term>Intellectual Disability</term>
<term>Prader-Willi Syndrome</term>
<term>Uniparental Disomy</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains</term>
<term>Chromosomes humains de la paire 15</term>
<term>Disomie uniparentale</term>
<term>Déficience intellectuelle</term>
<term>Empreinte génomique</term>
<term>Génome humain</term>
<term>Ilots CpG</term>
<term>Méthylation de l'ADN</term>
<term>Protéines associées aux microtubules</term>
<term>Syndrome d'Angelman</term>
<term>Syndrome de Prader-Willi</term>
<term>Épigenèse génétique</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Chromosome Aberrations</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Humans</term>
<term>Karyotype</term>
<term>Male</term>
<term>Parents</term>
<term>Reproducibility of Results</term>
<term>Sequence Analysis, RNA</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term>
<term>Allèles</term>
<term>Analyse de séquence d'ARN</term>
<term>Caryotype</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Parents</term>
<term>Reproductibilité des résultats</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at <italic>TUBGCP5</italic>
 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across ∼1.9 Mb of the 15q11–q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Californie</li>
<li>Canton de Zurich</li>
<li>Caroline du Nord</li>
<li>Caroline du Sud</li>
<li>District de Cologne</li>
<li>Géorgie (États-Unis)</li>
<li>Iowa</li>
<li>Oxfordshire</li>
<li>Pays de la Loire</li>
<li>Pennsylvanie</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Texas</li>
<li>État de New York</li>
</region>
<settlement><li>Aix-la-Chapelle</li>
<li>Iowa City</li>
<li>Nantes</li>
<li>New York</li>
<li>Oxford</li>
<li>Zurich</li>
</settlement>
<orgName><li>Université Columbia</li>
<li>Université d'Oxford</li>
<li>Université de Nantes</li>
<li>Université de Zurich</li>
<li>Université de l'Iowa</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Joshi, Ricky S" sort="Joshi, Ricky S" uniqKey="Joshi R" first="Ricky S." last="Joshi">Ricky S. Joshi</name>
</region>
<name sortKey="Azam, Nidha" sort="Azam, Nidha" uniqKey="Azam N" first="Nidha" last="Azam">Nidha Azam</name>
<name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name>
<name sortKey="Coffee, Bradford" sort="Coffee, Bradford" uniqKey="Coffee B" first="Bradford" last="Coffee">Bradford Coffee</name>
<name sortKey="Garg, Paras" sort="Garg, Paras" uniqKey="Garg P" first="Paras" last="Garg">Paras Garg</name>
<name sortKey="Ho, Daniel" sort="Ho, Daniel" uniqKey="Ho D" first="Daniel" last="Ho">Daniel Ho</name>
<name sortKey="Jacobson, Samuel G" sort="Jacobson, Samuel G" uniqKey="Jacobson S" first="Samuel G." last="Jacobson">Samuel G. Jacobson</name>
<name sortKey="Lappalainen, Tuuli" sort="Lappalainen, Tuuli" uniqKey="Lappalainen T" first="Tuuli" last="Lappalainen">Tuuli Lappalainen</name>
<name sortKey="Lappalainen, Tuuli" sort="Lappalainen, Tuuli" uniqKey="Lappalainen T" first="Tuuli" last="Lappalainen">Tuuli Lappalainen</name>
<name sortKey="Li, Xin" sort="Li, Xin" uniqKey="Li X" first="Xin" last="Li">Xin Li</name>
<name sortKey="Montgomery, Stephen B" sort="Montgomery, Stephen B" uniqKey="Montgomery S" first="Stephen B." last="Montgomery">Stephen B. Montgomery</name>
<name sortKey="Papenhausen, Peter" sort="Papenhausen, Peter" uniqKey="Papenhausen P" first="Peter" last="Papenhausen">Peter Papenhausen</name>
<name sortKey="Schwartz, Charles" sort="Schwartz, Charles" uniqKey="Schwartz C" first="Charles" last="Schwartz">Charles Schwartz</name>
<name sortKey="Sharp, Andrew J" sort="Sharp, Andrew J" uniqKey="Sharp A" first="Andrew J." last="Sharp">Andrew J. Sharp</name>
<name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name>
<name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name>
<name sortKey="Wassink, Thomas" sort="Wassink, Thomas" uniqKey="Wassink T" first="Thomas" last="Wassink">Thomas Wassink</name>
<name sortKey="Watson, Corey T" sort="Watson, Corey T" uniqKey="Watson C" first="Corey T." last="Watson">Corey T. Watson</name>
<name sortKey="Zaitlen, Noah" sort="Zaitlen, Noah" uniqKey="Zaitlen N" first="Noah" last="Zaitlen">Noah Zaitlen</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name>
</noRegion>
<name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
</noRegion>
<name sortKey="De Leeuw, Nicole" sort="De Leeuw, Nicole" uniqKey="De Leeuw N" first="Nicole" last="De Leeuw">Nicole De Leeuw</name>
<name sortKey="Geraedts, Joep P" sort="Geraedts, Joep P" uniqKey="Geraedts J" first="Joep P." last="Geraedts">Joep P. Geraedts</name>
<name sortKey="Ruivenkamp, Claudia" sort="Ruivenkamp, Claudia" uniqKey="Ruivenkamp C" first="Claudia" last="Ruivenkamp">Claudia Ruivenkamp</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Buiting, Karin" sort="Buiting, Karin" uniqKey="Buiting K" first="Karin" last="Buiting">Karin Buiting</name>
</noRegion>
<name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name>
<name sortKey="Liehr, Thomas" sort="Liehr, Thomas" uniqKey="Liehr T" first="Thomas" last="Liehr">Thomas Liehr</name>
</country>
<country name="Australie"><noRegion><name sortKey="Francis, David" sort="Francis, David" uniqKey="Francis D" first="David" last="Francis">David Francis</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Gimelli, Giorgio" sort="Gimelli, Giorgio" uniqKey="Gimelli G" first="Giorgio" last="Gimelli">Giorgio Gimelli</name>
</noRegion>
</country>
<country name="France"><region name="Pays de la Loire"><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
</region>
<name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
<name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Mackay, Deborah J" sort="Mackay, Deborah J" uniqKey="Mackay D" first="Deborah J." last="Mackay">Deborah J. Mackay</name>
</noRegion>
<name sortKey="Pagnamenta, Alistair T" sort="Pagnamenta, Alistair T" uniqKey="Pagnamenta A" first="Alistair T." last="Pagnamenta">Alistair T. Pagnamenta</name>
<name sortKey="Robinson, David O" sort="Robinson, David O" uniqKey="Robinson D" first="David O." last="Robinson">David O. Robinson</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

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