Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
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{"title"=>"Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting", "type"=>"journal", "authors"=>[{"first_name"=>"Marta", "last_name"=>"Sanchez-Delgado", "scopus_author_id"=>"56575653600"}, {"first_name"=>"Alejandro", "last_name"=>"Martin-Trujillo", "scopus_author_id"=>"36196931700"}, {"first_name"=>"Chiharu", "last_name"=>"Tayama", "scopus_author_id"=>"54405133700"}, {"first_name"=>"Enrique", "last_name"=>"Vidal", "scopus_author_id"=>"56312562600"}, {"first_name"=>"Manel", "last_name"=>"Esteller", "scopus_author_id"=>"14719291800"}, {"first_name"=>"Isabel", "last_name"=>"Iglesias-Platas", "scopus_author_id"=>"6506247307"}, {"first_name"=>"Nandita", "last_name"=>"Deo", "scopus_author_id"=>"7004465559"}, {"first_name"=>"Olivia", "last_name"=>"Barney", "scopus_author_id"=>"8625145900"}, {"first_name"=>"Ken", "last_name"=>"Maclean", "scopus_author_id"=>"56992623700"}, {"first_name"=>"Kenichiro", "last_name"=>"Hata", "scopus_author_id"=>"55726787600"}, {"first_name"=>"Kazuhiko", "last_name"=>"Nakabayashi", "scopus_author_id"=>"7101927819"}, {"first_name"=>"Rosemary", "last_name"=>"Fisher", "scopus_author_id"=>"7403556618"}, {"first_name"=>"David", "last_name"=>"Monk", "scopus_author_id"=>"7005728327"}], "year"=>2015, "source"=>"PLoS Genetics", "identifiers"=>{"sgr"=>"84949310225", "pui"=>"607184380", "pmid"=>"26544189", "issn"=>"15537404", "scopus"=>"2-s2.0-84949310225", "doi"=>"10.1371/journal.pgen.1005644"}, "id"=>"bece3769-f00c-3ac6-a4cf-60d0dd778074", "abstract"=>"Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are associated with aberrant genomic imprinting. However no systematic analyses for imprinting defects have been reported. Here, we present the genome-wide methylation profiles of both spontaneous androgenetic and biparental NLRP7 defective molar tissues. We observe total paternalization of all ubiquitous and placenta-specific differentially methylated regions (DMRs) in four androgenetic moles; namely gain of methylation at paternally methylated loci and absence of methylation at maternally methylated regions. The methylation defects observed in five RHM biopsies from NLRP7 defective patients are restricted to lack-of-methylation at maternal DMRs. Surprisingly RHMs from two sisters with the same missense mutations, as well as consecutive RHMs from one affected female show subtle allelic methylation differences, suggesting inter-RHM variation. These epigenotypes are consistent with NLRP7 being a maternal-effect gene and involved in imprint acquisition in the oocyte. In addition, bioinformatic screening of the resulting methylation datasets identified over sixty loci with methylation profiles consistent with imprinting in the placenta, of which we confirm 22 as novel maternally methylated loci. These observations strongly suggest that the molar phenotypes are due to defective placenta-specific imprinting and over-expression of paternally expressed transcripts, highlighting that maternal-effect mutations of NLRP7 are associated with the most severe form of multi-locus imprinting defects in humans.", "link"=>"http://www.mendeley.com/research/absence-maternal-methylation-biparental-hydatidiform-moles-women-nlrp7-maternaleffect-mutations-reve", "reader_count"=>14, "reader_count_by_academic_status"=>{"Researcher"=>5, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>1, "Student > Master"=>5}, "reader_count_by_user_role"=>{"Researcher"=>5, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>1, "Student > Master"=>5}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Nursing and Health Professions"=>1, "Biochemistry, Genetics and Molecular Biology"=>5, "Agricultural and Biological Sciences"=>6, "Psychology"=>1}, "reader_count_by_subdiscipline"=>{"Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>6}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Unspecified"=>{"Unspecified"=>1}}, "reader_count_by_country"=>{"Spain"=>1}, "group_count"=>2}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2415354"], "description"=>"<p>(A) Confirmation of paternal expression of <i>RHOBTB3</i>, <i>SCIN</i> and <i>ZNF396</i> in term placenta and biallelic expression of neighboring genes. (B) The allele-specific expression analysis of genes flanking known placenta-specific imprinted transcripts <i>GPR1-AS</i>, <i>MCCC1</i> and <i>AGBL3</i>. Biallelic expression of <i>ZNF396</i>, <i>ADAM23</i>, <i>MCCC1</i> and <i>AGBL3</i> was confirmed in somatic tissues. (C) Allele-specific RT-PCR analysis of <i>Adam23</i> in mouse embryo and placenta at embryonic day 9.5. The asterisk (*) in the sequence traces shows the position of the polymorphic base. The blue boxes in the figures represent the paternally expressed transcripts, white boxes signify biallelically expressed genes and grey boxes are transcripts not expressed in term placenta samples. The location of unmethylated CpG islands and the DMRs are shown by the lollipops. PL = placenta, BR = brain, KID = kidney, LY = blood leucocytes, CB = cord blood.</p>", "links"=>[], "tags"=>["allelic methylation differences", "androgenetic molar conceptuses", "rhm", "dmr", "imprinting", "hm", "mutation", "NLRP 7 gene", "novel maternally methylated loci", "diploid biparental constitution", "Biparental Hydatidiform Moles", "maternally methylated regions", "defect", "NLRP 7", "biparental NLRP 7"], "article_id"=>1596253, "categories"=>["Uncategorised"], "users"=>["Marta Sanchez-Delgado", "Alejandro Martin-Trujillo", "Chiharu Tayama", "Enrique Vidal", "Manel Esteller", "Isabel Iglesias-Platas", "Nandita Deo", "Olivia Barney", "Ken Maclean", "Kenichiro Hata", "Kazuhiko Nakabayashi", "Rosemary Fisher", "David Monk"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005644.g004", "stats"=>{"downloads"=>0, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Allele_specific_RT_PCR_analysis_of_candidate_placenta_specific_imprinted_genes_/1596253", "title"=>"Allele-specific RT-PCR analysis of candidate placenta-specific imprinted genes.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 03:09:37"}
  • {"files"=>["https://ndownloader.figshare.com/files/2415357", "https://ndownloader.figshare.com/files/2415358", "https://ndownloader.figshare.com/files/2415359", "https://ndownloader.figshare.com/files/2415360", "https://ndownloader.figshare.com/files/2415361", "https://ndownloader.figshare.com/files/2415362", "https://ndownloader.figshare.com/files/2415363", "https://ndownloader.figshare.com/files/2415364", "https://ndownloader.figshare.com/files/2415365", "https://ndownloader.figshare.com/files/2415366", "https://ndownloader.figshare.com/files/2415367"], "description"=>"<div><p>Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the <i>NLRP7</i> gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are associated with aberrant genomic imprinting. However no systematic analyses for imprinting defects have been reported. Here, we present the genome-wide methylation profiles of both spontaneous androgenetic and biparental <i>NLRP7</i> defective molar tissues. We observe total paternalization of all ubiquitous and placenta-specific differentially methylated regions (DMRs) in four androgenetic moles; namely gain of methylation at paternally methylated loci and absence of methylation at maternally methylated regions. The methylation defects observed in five RHM biopsies from <i>NLRP7</i> defective patients are restricted to lack-of-methylation at maternal DMRs. Surprisingly RHMs from two sisters with the same missense mutations, as well as consecutive RHMs from one affected female show subtle allelic methylation differences, suggesting inter-RHM variation. These epigenotypes are consistent with <i>NLRP7</i> being a maternal-effect gene and involved in imprint acquisition in the oocyte. In addition, bioinformatic screening of the resulting methylation datasets identified over sixty loci with methylation profiles consistent with imprinting in the placenta, of which we confirm 22 as novel maternally methylated loci. These observations strongly suggest that the molar phenotypes are due to defective placenta-specific imprinting and over-expression of paternally expressed transcripts, highlighting that maternal-effect mutations of <i>NLRP7</i> are associated with the most severe form of multi-locus imprinting defects in humans.</p></div>", "links"=>[], "tags"=>["allelic methylation differences", "androgenetic molar conceptuses", "rhm", "dmr", "imprinting", "hm", "mutation", "NLRP 7 gene", "novel maternally methylated loci", "diploid biparental constitution", "Biparental Hydatidiform Moles", "maternally methylated regions", "defect", "NLRP 7", "biparental NLRP 7"], "article_id"=>1596254, "categories"=>["Uncategorised"], "users"=>["Marta Sanchez-Delgado", "Alejandro Martin-Trujillo", "Chiharu Tayama", "Enrique Vidal", "Manel Esteller", "Isabel Iglesias-Platas", "Nandita Deo", "Olivia Barney", "Ken Maclean", "Kenichiro Hata", "Kazuhiko Nakabayashi", "Rosemary Fisher", "David Monk"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1005644.s001", "https://dx.doi.org/10.1371/journal.pgen.1005644.s002", "https://dx.doi.org/10.1371/journal.pgen.1005644.s003", "https://dx.doi.org/10.1371/journal.pgen.1005644.s004", "https://dx.doi.org/10.1371/journal.pgen.1005644.s005", "https://dx.doi.org/10.1371/journal.pgen.1005644.s006", "https://dx.doi.org/10.1371/journal.pgen.1005644.s007", "https://dx.doi.org/10.1371/journal.pgen.1005644.s008", "https://dx.doi.org/10.1371/journal.pgen.1005644.s009", "https://dx.doi.org/10.1371/journal.pgen.1005644.s010", "https://dx.doi.org/10.1371/journal.pgen.1005644.s011"], "stats"=>{"downloads"=>15, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Absence_of_Maternal_Methylation_in_Biparental_Hydatidiform_Moles_from_Women_with_NLRP7_Maternal_Effect_Mutations_Reveals_Widespread_Placenta_Specific_Imprinting/1596254", "title"=>"Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with <i>NLRP7</i> Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-11-06 03:09:37"}
  • {"files"=>["https://ndownloader.figshare.com/files/2415352"], "description"=>"<p>(A) Circular heatmap of the 153 Infinium array probes mapping to the 18 known placenta-specific imprinted DMRs. The inner circles represent the methylation values of androgenetic HMs, the middle circles normal placental biopsies and the outer circle the RHMs associated with maternal-effect <i>NLRP7</i> mutations. (B) Confirmation of the methylation profile at the maternally methylated <i>GLIS3</i>, <i>DNMT1</i> and <i>MCCC1</i> DMRs by bisulphite PCR and subcloning. Each circle represents a single CpG dinucleotide on a DNA strand, a methylated cytosine (●) or an unmethylated cytosine (○). For clarity, only the first 10 CpG dinucleotides from each amplicon are shown with the letters in the parentheses indicating SNP genotype. (C) Allelic expression analysis of imprinted genes <i>MCCC1</i>, <i>LIN28B</i> and <i>GLIS3</i> in control placenta samples (PL) and <i>NLRP7</i>-mutated moles (RHM). (D) Quantitative RT-PCR for <i>H19</i>, <i>DNMT1</i> and <i>AGBL3</i> in RHM samples. The boxplot show the median expression (whiskers 5–95% percentile) determined for 15 control placenta samples with the values of RHMs highlighted.</p>", "links"=>[], "tags"=>["allelic methylation differences", "androgenetic molar conceptuses", "rhm", "dmr", "imprinting", "hm", "mutation", "NLRP 7 gene", "novel maternally methylated loci", "diploid biparental constitution", "Biparental Hydatidiform Moles", "maternally methylated regions", "defect", "NLRP 7", "biparental NLRP 7"], "article_id"=>1596251, "categories"=>["Uncategorised"], "users"=>["Marta Sanchez-Delgado", "Alejandro Martin-Trujillo", "Chiharu Tayama", "Enrique Vidal", "Manel Esteller", "Isabel Iglesias-Platas", "Nandita Deo", "Olivia Barney", "Ken Maclean", "Kenichiro Hata", "Kazuhiko Nakabayashi", "Rosemary Fisher", "David Monk"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005644.g002", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Methylation_and_expression_analyses_of_placenta_specific_DMRs_in_RHM_samples_/1596251", "title"=>"Methylation and expression analyses of placenta-specific DMRs in RHM samples.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 03:09:37"}
  • {"files"=>["https://ndownloader.figshare.com/files/2415353"], "description"=>"<p>(A) A heatmap for the β<sub>mean</sub> of the Infinium probes with a methylation difference (>20%, minimum 3 consecutive probes) in RHMs associated with maternal effect <i>NLRP7</i> mutations compared to control placental biopsies. (B) Schematic representation of the methylation-sensitive <i>Hpa</i>II genotyping assay. (C) Methylation profiles as determined by methylation-sensitive genotyping and (D) bisulfite PCR and subcloning on placenta and somatic tissue DNA samples at the <i>SCIN</i>, <i>ST8AIA1</i> and <i>CABIN1</i> promoters. Note that the samples used for methylation-sensitive genotyping and bisulphite PCR maybe different to highlight that methylation is not associated with genotype but parental origin.</p>", "links"=>[], "tags"=>["allelic methylation differences", "androgenetic molar conceptuses", "rhm", "dmr", "imprinting", "hm", "mutation", "NLRP 7 gene", "novel maternally methylated loci", "diploid biparental constitution", "Biparental Hydatidiform Moles", "maternally methylated regions", "defect", "NLRP 7", "biparental NLRP 7"], "article_id"=>1596252, "categories"=>["Uncategorised"], "users"=>["Marta Sanchez-Delgado", "Alejandro Martin-Trujillo", "Chiharu Tayama", "Enrique Vidal", "Manel Esteller", "Isabel Iglesias-Platas", "Nandita Deo", "Olivia Barney", "Ken Maclean", "Kenichiro Hata", "Kazuhiko Nakabayashi", "Rosemary Fisher", "David Monk"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005644.g003", "stats"=>{"downloads"=>2, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Identification_of_additional_placenta_specific_imprinted_DMRs_in_RHM_samples_/1596252", "title"=>"Identification of additional placenta-specific imprinted DMRs in RHM samples.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 03:09:37"}
  • {"files"=>["https://ndownloader.figshare.com/files/2415351"], "description"=>"<p>(A) Confirmation of recessive <i>NLRP7</i> mutations in female patients and heterozygous status in the RHM samples. The asterisk (*) on the electropherogram highlights the position of the mutation. For patient 3 the position of the deletion is shown. (B) Circular heat map of the 616 Infinium array probes mapping to 36 ubiquitously imprinted DMRs. The inner circle represents the methylation values of androgenetic HMs, the middle circles normal placental biopsies and the outer circle the RHMs associated with maternal-effect <i>NLRP7</i> mutations. (C) Confirmation of the methylation profile of the <i>NLRP7</i> mutated RHMs at the <i>NAP1L5</i>, <i>PEG10</i>, <i>RB1</i>, <i>L3MBTL1</i> and <i>H19</i> DMRs by bisulphite PCR and subcloning. Each circle represents a single CpG dinucleotide on a DNA strand, a methylated cytosine (●) or an unmethylated cytosine (○). For clarity, only the first 10 CpG dinucleotides from each amplicon are shown with the letters in the parentheses indicating SNP genotype. (D) Allelic expression analysis of imprinted genes <i>NAP1L5</i>, <i>HYMAI</i>, <i>PEG10</i> and <i>PEG3</i> in control placenta samples (PL) and <i>NLRP7</i>-mutated moles (RHM).</p>", "links"=>[], "tags"=>["allelic methylation differences", "androgenetic molar conceptuses", "rhm", "dmr", "imprinting", "hm", "mutation", "NLRP 7 gene", "novel maternally methylated loci", "diploid biparental constitution", "Biparental Hydatidiform Moles", "maternally methylated regions", "defect", "NLRP 7", "biparental NLRP 7"], "article_id"=>1596250, "categories"=>["Uncategorised"], "users"=>["Marta Sanchez-Delgado", "Alejandro Martin-Trujillo", "Chiharu Tayama", "Enrique Vidal", "Manel Esteller", "Isabel Iglesias-Platas", "Nandita Deo", "Olivia Barney", "Ken Maclean", "Kenichiro Hata", "Kazuhiko Nakabayashi", "Rosemary Fisher", "David Monk"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005644.g001", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Description_of_NLRP7_mutations_with_methylation_and_expression_profiling_of_imprinted_loci_/1596250", "title"=>"Description of <i>NLRP7</i> mutations with methylation and expression profiling of imprinted loci.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 03:09:37"}

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  • {"unique-ip"=>"17", "full-text"=>"26", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"4"}
  • {"unique-ip"=>"18", "full-text"=>"30", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2020", "month"=>"5"}
  • {"unique-ip"=>"19", "full-text"=>"26", "pdf"=>"10", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"9", "cited-by"=>"0", "year"=>"2020", "month"=>"6"}
  • {"unique-ip"=>"5", "full-text"=>"5", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"7"}
  • {"unique-ip"=>"6", "full-text"=>"7", "pdf"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"8"}
  • {"unique-ip"=>"13", "full-text"=>"11", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"9"}
  • {"unique-ip"=>"7", "full-text"=>"4", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"10"}
  • {"unique-ip"=>"7", "full-text"=>"8", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"11"}
  • {"unique-ip"=>"21", "full-text"=>"10", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"22", "cited-by"=>"0", "year"=>"2020", "month"=>"12"}
  • {"unique-ip"=>"13", "full-text"=>"14", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2021", "month"=>"1"}
  • {"unique-ip"=>"7", "full-text"=>"9", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2021", "month"=>"2"}

Relative Metric

{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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