Publication:

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

Date

Date

Date
2016
Journal Article
Published version

Citations

Citation copied

Joshi, R. S., Garg, P., Zaitlen, N., Lappalainen, T., Watson, C. T., Azam, N., Ho, D., Li, X., Antonarakis, S. E., Brunner, H. G., Buiting, K., Cheung, S. W., Coffee, B., Eggermann, T., Francis, D., Geraedts, J. P., Gimelli, G., Jacobson, S. G., Le Caignec, C., … et al. (2016). DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics, 99, 555–566. https://doi.org/10.1016/j.ajhg.2016.06.032

Abstract

Abstract

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 level

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1 since deposited on 2023-04-19
Acq. date: 2025-11-12

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54 since deposited on 2023-04-19
Acq. date: 2025-11-12

Additional indexing

Creators (Authors)

  • Joshi, Ricky S
    affiliation.icon.alt
  • Garg, Paras
    affiliation.icon.alt
  • Zaitlen, Noah
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  • Lappalainen, Tuuli
    affiliation.icon.alt
  • Watson, Corey T
    affiliation.icon.alt
  • Azam, Nidha
    affiliation.icon.alt
  • Ho, Daniel
    affiliation.icon.alt
  • Li, Xin
    affiliation.icon.alt
  • Antonarakis, Stylianos E
    affiliation.icon.alt
  • Brunner, Han G
    affiliation.icon.alt
  • Buiting, Karin
    affiliation.icon.alt
  • Cheung, Sau Wai
    affiliation.icon.alt
  • Coffee, Bradford
    affiliation.icon.alt
  • Eggermann, Thomas
    affiliation.icon.alt
  • Francis, David
    affiliation.icon.alt
  • Geraedts, Joep P
    affiliation.icon.alt
  • Gimelli, Giorgio
    affiliation.icon.alt
  • Jacobson, Samuel G
    affiliation.icon.alt
  • Le Caignec, Cedric
    affiliation.icon.alt
  • de Leeuw, Nicole
    affiliation.icon.alt
  • Liehr, Thomas
    affiliation.icon.alt
  • Mackay, Deborah J
    affiliation.icon.alt
  • Montgomery, Stephen B
    affiliation.icon.alt
  • Pagnamenta, Alistair T
    affiliation.icon.alt
  • Papenhausen, Peter
    affiliation.icon.alt
  • Robinson, David O
    affiliation.icon.alt
  • Ruivenkamp, Claudia
    affiliation.icon.alt
  • Schwartz, Charles
    affiliation.icon.alt
  • Steiner, Bernhard
    affiliation.icon.alt
  • Stevenson, David A
    affiliation.icon.alt
  • et al

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
99

Number

Number

Number
3

Page range/Item number

Page range/Item number

Page range/Item number
555

Page end

Page end

Page end
566

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Genetics, genomic imprinting, uniparental disomy, 15q11.2, Prader-Willi syndrome, Angelman syndrome

Language

Language

Language
English

Publication date

Publication date

Publication date
2016-09-01

Date available

Date available

Date available
2023-04-19

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0002-9297

OA Status

OA Status

OA Status
Closed

Free Access at

Free Access at

Free Access at
DOI

PubMed ID

PubMed ID

PubMed ID

Other Identification Number

Other Identification Number

Other Identification Number
PMCID: PMC5011056

Metrics

Downloads

1 since deposited on 2023-04-19
Acq. date: 2025-11-12

Views

54 since deposited on 2023-04-19
Acq. date: 2025-11-12

Citations

Citation copied

Joshi, R. S., Garg, P., Zaitlen, N., Lappalainen, T., Watson, C. T., Azam, N., Ho, D., Li, X., Antonarakis, S. E., Brunner, H. G., Buiting, K., Cheung, S. W., Coffee, B., Eggermann, T., Francis, D., Geraedts, J. P., Gimelli, G., Jacobson, S. G., Le Caignec, C., … et al. (2016). DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics, 99, 555–566. https://doi.org/10.1016/j.ajhg.2016.06.032

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