title: [Epimutations of the KCNQ1OT1 imprinting center of chromosome 11 in early human embryo lethality].
abstract: Disturbance of the epigenetic status of the H19 and KCNQ1OT1 imprinting centers of chromosome 11 and the CDKN1C imprinted gene in early human embryolethality have been studied. This is the first study to detect hypomethylation of KCNQ1OT1 in the maternal homolog in placental tissues from some (9.5%) spontaneous abortions with impaired cell proliferation during the first trimester of pregnancy. Tissue specificity of the aberrant methylation status of the imprinting center has been found. A hypothesis on the postimplantation origin of epimutations in somatic cells of the developing embryo is put forward. The selective role of epimutations of imprinted genes in early human ontogeny as compared to uniparental chromosome inheritance is considered; estimation of the epigenetic risk entailed in using assisted reproductive technologies is discussed.
authors.forename: E A
authors.initials: EA
authors.lastname: Sazhenova
authors.forename: I N
authors.initials: IN
authors.lastname: Lebedev
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics / Q000378:metabolism*; D049109:Cell Proliferation; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics / Q000378:metabolism*; D019175:DNA Methylation / Q000235:genetics; D020964:Embryo Loss / Q000235:genetics / Q000378:metabolism*; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D010920:Placenta / Q000378:metabolism; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics / Q000378:metabolism
chemical_list: C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated