Open Access
Scientific Reports, volume 12, issue 1, publication number 1166
Identification of differentially methylated genes in first-trimester placentas with trisomy 16
Tolmacheva Ekaterina N
1
,
Nikitina Tatiana V.
1
,
Lytkina Ekaterina S
2
,
Sazhenova Elena A
1
,
Zhigalina Daria I
1
,
Vasilyeva Oksana Yu.
1
,
Markov Anton V
1
,
Demeneva Victoria V
1
,
Tashireva Liubov A.
3
,
Kashevarova Anna A.
1
,
Lebedev Igor N
1
Publication type: Journal Article
Publication date: 2022-01-21
PubMed ID:
35064135
Multidisciplinary
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.
Citations by journals
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1
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Cells
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Cells
1 publication, 50%
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RUDN Journal of Medicine
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RUDN Journal of Medicine
1 publication, 50%
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1
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Citations by publishers
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1
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Multidisciplinary Digital Publishing Institute (MDPI)
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Multidisciplinary Digital Publishing Institute (MDPI)
1 publication, 50%
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Peoples' Friendship University of Russia
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Peoples' Friendship University of Russia
1 publication, 50%
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1
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Tolmacheva E. N. et al. Identification of differentially methylated genes in first-trimester placentas with trisomy 16 // Scientific Reports. 2022. Vol. 12. No. 1. 1166
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Tolmacheva E. N., Vasilyev S. A., Nikitina T. V., Lytkina E. S., Sazhenova E. A., Zhigalina D. I., Vasilyeva O. Y., Markov A. V., Demeneva V. V., Tashireva L. A., Kashevarova A. A., Lebedev I. N. Identification of differentially methylated genes in first-trimester placentas with trisomy 16 // Scientific Reports. 2022. Vol. 12. No. 1. 1166
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TY - JOUR
DO - 10.1038/s41598-021-04107-9
UR - https://doi.org/10.1038%2Fs41598-021-04107-9
TI - Identification of differentially methylated genes in first-trimester placentas with trisomy 16
T2 - Scientific Reports
AU - Tolmacheva, Ekaterina N
AU - Vasilyev, Stanislav A
AU - Nikitina, Tatiana V.
AU - Lytkina, Ekaterina S
AU - Sazhenova, Elena A
AU - Zhigalina, Daria I
AU - Vasilyeva, Oksana Yu.
AU - Markov, Anton V
AU - Demeneva, Victoria V
AU - Tashireva, Liubov A.
AU - Kashevarova, Anna A.
AU - Lebedev, Igor N
PY - 2022
DA - 2022/01/21 00:00:00
PB - Springer Nature
IS - 1
VL - 12
PMID - 35064135
SN - 2045-2322
ER -
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@article{2022_Tolmacheva,
author = {Ekaterina N Tolmacheva and Stanislav A Vasilyev and Tatiana V. Nikitina and Ekaterina S Lytkina and Elena A Sazhenova and Daria I Zhigalina and Oksana Yu. Vasilyeva and Anton V Markov and Victoria V Demeneva and Liubov A. Tashireva and Anna A. Kashevarova and Igor N Lebedev},
title = {Identification of differentially methylated genes in first-trimester placentas with trisomy 16},
journal = {Scientific Reports},
year = {2022},
volume = {12},
publisher = {Springer Nature},
month = {jan},
url = {https://doi.org/10.1038%2Fs41598-021-04107-9},
number = {1},
doi = {10.1038/s41598-021-04107-9}
}
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