DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Identifieur interne : 001555 ( Pmc/Curation ); précédent : 001554; suivant : 001556DNA 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.
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
Url:
DOI: 10.1016/j.ajhg.2016.06.032
PubMed: 27569549
PubMed Central: 5011056
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<author><name sortKey="Azam, Nidha" sort="Azam, Nidha" uniqKey="Azam N" first="Nidha" last="Azam">Nidha Azam</name>
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<author><name sortKey="Ho, Daniel" sort="Ho, Daniel" uniqKey="Ho D" first="Daniel" last="Ho">Daniel Ho</name>
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<author><name sortKey="Li, Xin" sort="Li, Xin" uniqKey="Li X" first="Xin" last="Li">Xin Li</name>
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<author><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name>
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<author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
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<author><name sortKey="Buiting, Karin" sort="Buiting, Karin" uniqKey="Buiting K" first="Karin" last="Buiting">Karin Buiting</name>
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<author><name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name>
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<author><name sortKey="Coffee, Bradford" sort="Coffee, Bradford" uniqKey="Coffee B" first="Bradford" last="Coffee">Bradford Coffee</name>
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<author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
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<author><name sortKey="Gimelli, Giorgio" sort="Gimelli, Giorgio" uniqKey="Gimelli G" first="Giorgio" last="Gimelli">Giorgio Gimelli</name>
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<author><name sortKey="Jacobson, Samuel G" sort="Jacobson, Samuel G" uniqKey="Jacobson S" first="Samuel G." last="Jacobson">Samuel G. Jacobson</name>
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<wicri:regionArea>Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, 51 N. 39th Street, Philadelphia, PA 19104</wicri:regionArea>
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<author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
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<author><name sortKey="De Leeuw, Nicole" sort="De Leeuw, Nicole" uniqKey="De Leeuw N" first="Nicole" last="De Leeuw">Nicole De Leeuw</name>
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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>
</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>
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<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>
</affiliation>
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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>
<affiliation wicri:level="1"><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>
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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>
<affiliation wicri:level="1"><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>
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<author><name sortKey="Papenhausen, Peter" sort="Papenhausen, Peter" uniqKey="Papenhausen P" first="Peter" last="Papenhausen">Peter Papenhausen</name>
<affiliation wicri:level="1"><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>
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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>
<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>
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<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>
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<author><name sortKey="Schwartz, Charles" sort="Schwartz, Charles" uniqKey="Schwartz C" first="Charles" last="Schwartz">Charles Schwartz</name>
<affiliation wicri:level="1"><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>
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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="1"><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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<author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name>
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<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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<author><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name>
<affiliation wicri:level="1"><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>
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<author><name sortKey="Wassink, Thomas" sort="Wassink, Thomas" uniqKey="Wassink T" first="Thomas" last="Wassink">Thomas Wassink</name>
<affiliation wicri:level="1"><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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<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="1"><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="1"><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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<author><name sortKey="Garg, Paras" sort="Garg, Paras" uniqKey="Garg P" first="Paras" last="Garg">Paras Garg</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Lappalainen, Tuuli" sort="Lappalainen, Tuuli" uniqKey="Lappalainen T" first="Tuuli" last="Lappalainen">Tuuli Lappalainen</name>
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<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>
</affiliation>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Azam, Nidha" sort="Azam, Nidha" uniqKey="Azam N" first="Nidha" last="Azam">Nidha Azam</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Ho, Daniel" sort="Ho, Daniel" uniqKey="Ho D" first="Daniel" last="Ho">Daniel Ho</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Li, Xin" sort="Li, Xin" uniqKey="Li X" first="Xin" last="Li">Xin Li</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Coffee, Bradford" sort="Coffee, Bradford" uniqKey="Coffee B" first="Bradford" last="Coffee">Bradford Coffee</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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="1"><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>
</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="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Papenhausen, Peter" sort="Papenhausen, Peter" uniqKey="Papenhausen P" first="Peter" last="Papenhausen">Peter Papenhausen</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles" sort="Schwartz, Charles" uniqKey="Schwartz C" first="Charles" last="Schwartz">Charles Schwartz</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Wassink, Thomas" sort="Wassink, Thomas" uniqKey="Wassink T" first="Thomas" last="Wassink">Thomas Wassink</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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></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>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>American Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>Elsevier</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">27569549</article-id>
<article-id pub-id-type="pmc">5011056</article-id>
<article-id pub-id-type="publisher-id">S0002-9297(16)30270-1</article-id>
<article-id pub-id-type="doi">10.1016/j.ajhg.2016.06.032</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Joshi</surname>
<given-names>Ricky S.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">29</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Garg</surname>
<given-names>Paras</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">29</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zaitlen</surname>
<given-names>Noah</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lappalainen</surname>
<given-names>Tuuli</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Watson</surname>
<given-names>Corey T.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Azam</surname>
<given-names>Nidha</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ho</surname>
<given-names>Daniel</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn2" ref-type="fn">30</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Li</surname>
<given-names>Xin</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Antonarakis</surname>
<given-names>Stylianos E.</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brunner</surname>
<given-names>Han G.</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Buiting</surname>
<given-names>Karin</given-names>
</name>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cheung</surname>
<given-names>Sau Wai</given-names>
</name>
<xref rid="aff9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Coffee</surname>
<given-names>Bradford</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eggermann</surname>
<given-names>Thomas</given-names>
</name>
<xref rid="aff11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Francis</surname>
<given-names>David</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Geraedts</surname>
<given-names>Joep P.</given-names>
</name>
<xref rid="aff13" ref-type="aff">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gimelli</surname>
<given-names>Giorgio</given-names>
</name>
<xref rid="aff14" ref-type="aff">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jacobson</surname>
<given-names>Samuel G.</given-names>
</name>
<xref rid="aff15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Le Caignec</surname>
<given-names>Cedric</given-names>
</name>
<xref rid="aff16" ref-type="aff">16</xref>
<xref rid="aff17" ref-type="aff">17</xref>
<xref rid="aff18" ref-type="aff">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>de Leeuw</surname>
<given-names>Nicole</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Liehr</surname>
<given-names>Thomas</given-names>
</name>
<xref rid="aff19" ref-type="aff">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mackay</surname>
<given-names>Deborah J.</given-names>
</name>
<xref rid="aff20" ref-type="aff">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Montgomery</surname>
<given-names>Stephen B.</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pagnamenta</surname>
<given-names>Alistair T.</given-names>
</name>
<xref rid="aff21" ref-type="aff">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Papenhausen</surname>
<given-names>Peter</given-names>
</name>
<xref rid="aff22" ref-type="aff">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Robinson</surname>
<given-names>David O.</given-names>
</name>
<xref rid="aff20" ref-type="aff">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ruivenkamp</surname>
<given-names>Claudia</given-names>
</name>
<xref rid="aff23" ref-type="aff">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schwartz</surname>
<given-names>Charles</given-names>
</name>
<xref rid="aff24" ref-type="aff">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Steiner</surname>
<given-names>Bernhard</given-names>
</name>
<xref rid="aff25" ref-type="aff">25</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stevenson</surname>
<given-names>David A.</given-names>
</name>
<xref rid="aff26" ref-type="aff">26</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Surti</surname>
<given-names>Urvashi</given-names>
</name>
<xref rid="aff27" ref-type="aff">27</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wassink</surname>
<given-names>Thomas</given-names>
</name>
<xref rid="aff28" ref-type="aff">28</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sharp</surname>
<given-names>Andrew J.</given-names>
</name>
<email>andrew.sharp@mssm.edu</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="cor1" ref-type="corresp">∗</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</aff>
<aff id="aff2"><label>2</label>
Department of Medicine, UCSF MC2552, 1700 4th Street, Byers Hall Suite 503C, San Francisco, CA 94158, USA</aff>
<aff id="aff3"><label>3</label>
New York Genome Center, 101 Avenue of the Americas, 7th Floor, New York, NY 10013, USA</aff>
<aff id="aff4"><label>4</label>
Department of Systems Biology, Columbia University, New York, NY 10032, USA</aff>
<aff id="aff5"><label>5</label>
Departments of Pathology, Genetics and Computer Science, Stanford University School of Medicine, Stanford, CA 94305, USA</aff>
<aff id="aff6"><label>6</label>
Department of Genetic Medicine and Development, University of Geneva Medical School, 9th Floor, 1 rue Michel-Servet, 1211 Geneva, Switzerland</aff>
<aff id="aff7"><label>7</label>
Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands</aff>
<aff id="aff8"><label>8</label>
Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstrasse 55, 45122 Essen, Germany</aff>
<aff id="aff9"><label>9</label>
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</aff>
<aff id="aff10"><label>10</label>
Emory Genetics Laboratory, Emory University, Atlanta, GA 30033, USA</aff>
<aff id="aff11"><label>11</label>
Institute of Human Genetics, University Hospital, RWTH, 52074 Aachen, Germany</aff>
<aff id="aff12"><label>12</label>
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052, Australia</aff>
<aff id="aff13"><label>13</label>
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</aff>
<aff id="aff14"><label>14</label>
Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genova, Italy</aff>
<aff id="aff15"><label>15</label>
Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, 51 N. 39th Street, Philadelphia, PA 19104, USA</aff>
<aff id="aff16"><label>16</label>
CHU Nantes, Service de Génétique Médicale, Institut de Biologie, 9 quai Moncousu, 44093 Nantes, France</aff>
<aff id="aff17"><label>17</label>
INSERM, UMR 957, Nantes 44035, France</aff>
<aff id="aff18"><label>18</label>
Université de Nantes, Nantes atlantique universités, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Nantes 44035, France</aff>
<aff id="aff19"><label>19</label>
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany</aff>
<aff id="aff20"><label>20</label>
Wessex Regional Genetics Laboratory Salisbury District Hospital, Salisbury, Wiltshire SO2 8BJ, UK</aff>
<aff id="aff21"><label>21</label>
National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK</aff>
<aff id="aff22"><label>22</label>
Division of Cytogenetics, LabCorp, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA</aff>
<aff id="aff23"><label>23</label>
Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</aff>
<aff id="aff24"><label>24</label>
J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA</aff>
<aff id="aff25"><label>25</label>
Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland</aff>
<aff id="aff26"><label>26</label>
Division of Medical Genetics, Lucile Salter Packard Children’s Hospital, 300 Pasteur Drive, Boswell Building A097, Stanford, CA 94304, USA</aff>
<aff id="aff27"><label>27</label>
Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA</aff>
<aff id="aff28"><label>28</label>
Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author <email>andrew.sharp@mssm.edu</email>
</corresp>
<fn id="fn1"><label>29</label>
<p id="ntpara0010">These authors contributed equally to this work</p>
</fn>
<fn id="fn2"><label>30</label>
<p id="ntpara0015">Present address: Novartis Institutes for Biomedical Research, 100 Technology Square, 8503C, Cambridge, MA 02139, USA</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>01</day>
<month>9</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub"><day>25</day>
<month>8</month>
<year>2016</year>
</pub-date>
<volume>99</volume>
<issue>3</issue>
<fpage>555</fpage>
<lpage>566</lpage>
<history><date date-type="received"><day>29</day>
<month>2</month>
<year>2016</year>
</date>
<date date-type="accepted"><day>30</day>
<month>6</month>
<year>2016</year>
</date>
</history>
<permissions><copyright-statement>© 2016 American Society of Human Genetics.</copyright-statement>
<copyright-year>2016</copyright-year>
<copyright-holder>American Society of Human Genetics</copyright-holder>
</permissions>
<abstract id="abs0010"><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>
</abstract>
<kwd-group id="kwrds0010"><title>Keywords</title>
<kwd>genomic imprinting</kwd>
<kwd>uniparental disomy</kwd>
<kwd>15q11.2</kwd>
<kwd>Prader-Willi syndrome</kwd>
<kwd>Angelman syndrome</kwd>
</kwd-group>
</article-meta>
<notes><p id="misc0010">Published: August 25, 2016</p>
</notes>
</front>
</pmc>
</record>
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