Identification of differentially methylated genes in first-trimester placentas with trisomy 16.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Additional Information
    • Source:
      Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
    • Publication Information:
      Original Publication: London : Nature Publishing Group, copyright 2011-
    • Subject Terms:
      DNA Methylation*; Abortion, Spontaneous/*genetics ; Chorionic Villi/*pathology ; Trisomy/*genetics; Abortion, Spontaneous/pathology ; Chromosomes, Human, Pair 16/genetics ; CpG Islands/genetics ; Epigenesis, Genetic ; Female ; Humans ; Karyotyping ; Mosaicism ; Pregnancy ; Pregnancy Trimester, First ; Trisomy/pathology
    • Abstract:
      The presence of an extra chromosome in the embryo karyotype often dramatically affects the fate of pregnancy. Trisomy 16 is the most common aneuploidy in first-trimester miscarriages. The present study identified changes in DNA methylation in chorionic villi of miscarriages with trisomy 16. Ninety-seven differentially methylated sites in 91 genes were identified (false discovery rate (FDR) < 0.05 and Δβ > 0.15) using DNA methylation arrays. Most of the differentially methylated genes encoded secreted proteins, signaling peptides, and receptors with disulfide bonds. Subsequent analysis using targeted bisulfite massive parallel sequencing showed hypermethylation of the promoters of specific genes in miscarriages with trisomy 16 but not miscarriages with other aneuploidies. Some of the genes were responsible for the development of the placenta and embryo (GATA3-AS1, TRPV6, SCL13A4, and CALCB) and the formation of the mitotic spindle (ANKRD53). Hypermethylation of GATA3-AS1 was associated with reduced expression of GATA3 protein in chorionic villi of miscarriages with trisomy 16. Aberrant hypermethylation of genes may lead to a decrease in expression, impaired trophoblast differentiation and invasion, mitotic disorders, chromosomal mosaicism and karyotype self-correction via trisomy rescue mechanisms.
      (© 2022. The Author(s).)
    • References:
      Nat Rev Mol Cell Biol. 2015 Sep;16(9):519-32. (PMID: 26296162)
      Cytogenet Genome Res. 2011;132(1-2):1-7. (PMID: 20720394)
      Biotech Histochem. 2019 May;94(4):244-251. (PMID: 30916584)
      Bioinformatics. 2014 Apr 1;30(7):1003-5. (PMID: 24227676)
      Bio Protoc. 2019 Dec 20;9(24):. (PMID: 31867411)
      Front Immunol. 2018 Oct 29;9:2512. (PMID: 30420860)
      Biol Reprod. 2016 Nov;95(5):113. (PMID: 27733378)
      Elife. 2015 May 05;4:. (PMID: 25942454)
      Stem Cell Res. 2013 Mar;10(2):228-40. (PMID: 23314291)
      Bioinformatics. 2012 Jul 1;28(13):1805-6. (PMID: 22543366)
      Biochem Biophys Res Commun. 2016 Feb 12;470(3):484-491. (PMID: 26820536)
      Am J Med Genet. 2002 Oct 1;112(2):123-32. (PMID: 12244544)
      Hum Genet. 1983;63(4):349-57. (PMID: 6862440)
      Prenat Diagn. 2006 Oct;26(10):956-61. (PMID: 16874839)
      Cancer Res. 2005 Oct 1;65(19):8747-53. (PMID: 16204044)
      Placenta. 2014 Mar;35(3):216-22. (PMID: 24462402)
      Am J Med Genet. 1998 Sep 1;79(2):121-33. (PMID: 9741470)
      Genes (Basel). 2020 Sep 17;11(9):. (PMID: 32957536)
      Bioinformatics. 2002 Nov;18(11):1427-31. (PMID: 12424112)
      Genetika. 2010 Nov;46(11):1565-70. (PMID: 21261067)
      BMC Genomics. 2011 Oct 28;12:529. (PMID: 22032438)
      Placenta. 2013 Apr;34(4):381-4. (PMID: 23453247)
      Nucleic Acids Res. 2005 Jan 13;33(1):e9. (PMID: 15653630)
      Mol Hum Reprod. 2006 Jul;12(7):443-50. (PMID: 16772432)
      Placenta. 2017 Dec;60 Suppl 1:S61-S66. (PMID: 28526138)
      Nucleic Acids Res. 2015 Apr 20;43(7):e47. (PMID: 25605792)
      PLoS One. 2014 May 06;9(5):e96801. (PMID: 24802416)
      Science. 2008 Oct 31;322(5902):703-9. (PMID: 18974345)
      EMBO J. 2003 Feb 17;22(4):776-85. (PMID: 12574114)
      Ann Appl Stat. 2016 Jun;10(2):946-963. (PMID: 28367255)
      Nat Rev Genet. 2013 May;14(5):307-20. (PMID: 23594909)
      Clin Epigenetics. 2019 Apr 8;11(1):60. (PMID: 30961659)
      J Assist Reprod Genet. 2021 Jan;38(1):139-149. (PMID: 33170392)
      Cell Res. 2015 Nov;25(11):1273-6. (PMID: 26292834)
      Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613. (PMID: 30476243)
      Genet Med. 2017 Oct;19(10):1164-1170. (PMID: 28383546)
      Mol Biol (Mosk). 2013 May-Jun;47(3):423-32. (PMID: 23888773)
      Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R203-8. (PMID: 17911163)
      Science. 2007 Aug 17;317(5840):916-24. (PMID: 17702937)
      Eur J Hum Genet. 2004 Jul;12(7):513-20. (PMID: 15054396)
      Bioinformatics. 2008 Jul 1;24(13):1547-8. (PMID: 18467348)
    • Grant Information:
      19-74-10026 Russian Science Foundation
    • Subject Terms:
      Chromosome 16, trisomy
    • Publication Date:
      Date Created: 20220122 Date Completed: 20220307 Latest Revision: 20240405
    • Publication Date:
      20240405
    • Accession Number:
      PMC8782849
    • Accession Number:
      10.1038/s41598-021-04107-9
    • Accession Number:
      35064135