Journal of Assisted Reproduction and Genetics, volume 38, issue 1, pages 139-149
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy
Vasilyev Stanislav A.
1, 2
,
Tolmacheva Ekaterina N.
1
,
Vasilyeva Oksana Yu.
1
,
Марков А. В.
1
,
Zhigalina Daria I
1
,
Zatula Lada A
3
,
Lee Vasilissa A
3
,
Serdyukova Ekaterina S
2
,
Саженова Е. А.
1
,
Nikitina Tatyana V.
1
,
Толмачёва Е. Н.
1
,
Лебедев И. Н.
1, 3
Publication type: Journal Article
Publication date: 2020-11-10
Quartile SCImago
Q2
Quartile WOS
Q2
Impact factor: 3.1
ISSN: 10580468
PubMed ID:
33170392
General Medicine
Genetics
Developmental Biology
Reproductive Medicine
Genetics (clinical)
Obstetrics and Gynecology
Abstract
High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible association between epigenetic mechanisms and aneuploidy occurrence. This study aimed to assess the methylation level of the long interspersed repeat element 1 (LINE-1) retrotransposon in chorionic villi of first trimester miscarriages with a normal karyotype and aneuploidy. The methylation level was assessed at 19 LINE-1 promoter CpG sites in chorionic villi of 141 miscarriages with trisomy of chromosomes 2, 6, 8–10, 13–15, 16, 18, 20–22, and monosomy X using massive parallel sequencing. The LINE-1 methylation level was elevated statistically significant in chorionic villi of miscarriages with both trisomy (45.2 ± 4.3%) and monosomy X (46.9 ± 4.2%) compared with that in induced abortions (40.0 ± 2.4%) (p < 0.00001). The LINE-1 methylation levels were specific for miscarriages with different aneuploidies and significantly increased in miscarriages with trisomies 8, 14, and 18 and monosomy X (p < 0.05). The LINE-1 methylation level increased with gestational age both for group of miscarriages regardless of karyotype (R = 0.21, p = 0.012) and specifically for miscarriages with trisomy 16 (R = 0.48, p = 0.007). LINE-1 methylation decreased with maternal age in miscarriages with a normal karyotype (R = − 0.31, p = 0.029) and with trisomy 21 (R = − 0.64, p = 0.024) and increased with paternal age for miscarriages with trisomy 16 (R = 0.38, p = 0.048) and monosomy X (R = 0.73, p = 0.003). Our results indicate that the pathogenic effects of aneuploidy in human embryogenesis can be supplemented with significant epigenetic changes in the repetitive sequences.
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Vasilyev S. A. et al. LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy // Journal of Assisted Reproduction and Genetics. 2020. Vol. 38. No. 1. pp. 139-149.
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Vasilyev S. A., Tolmacheva E. N., Vasilyeva O. Y., Марков А. В., Zhigalina D. I., Zatula L. A., Lee V. A., Serdyukova E. S., Саженова Е. А., Nikitina T. V., Толмачёва Е. Н., Лебедев И. Н. LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy // Journal of Assisted Reproduction and Genetics. 2020. Vol. 38. No. 1. pp. 139-149.
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TY - JOUR
DO - 10.1007/s10815-020-02003-1
UR - https://doi.org/10.1007%2Fs10815-020-02003-1
TI - LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy
T2 - Journal of Assisted Reproduction and Genetics
AU - Vasilyev, Stanislav A.
AU - Tolmacheva, Ekaterina N.
AU - Vasilyeva, Oksana Yu.
AU - Марков, А. В.
AU - Zhigalina, Daria I
AU - Zatula, Lada A
AU - Lee, Vasilissa A
AU - Serdyukova, Ekaterina S
AU - Саженова, Е. А.
AU - Nikitina, Tatyana V.
AU - Толмачёва, Е. Н.
AU - Лебедев, И. Н.
PY - 2020
DA - 2020/11/10 00:00:00
PB - Springer Nature
SP - 139-149
IS - 1
VL - 38
PMID - 33170392
SN - 1058-0468
ER -
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@article{2020_Vasilyev,
author = {Stanislav A. Vasilyev and Ekaterina N. Tolmacheva and Oksana Yu. Vasilyeva and А. В. Марков and Daria I Zhigalina and Lada A Zatula and Vasilissa A Lee and Ekaterina S Serdyukova and Е. А. Саженова and Tatyana V. Nikitina and Е. Н. Толмачёва and И. Н. Лебедев},
title = {LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy},
journal = {Journal of Assisted Reproduction and Genetics},
year = {2020},
volume = {38},
publisher = {Springer Nature},
month = {nov},
url = {https://doi.org/10.1007%2Fs10815-020-02003-1},
number = {1},
pages = {139--149},
doi = {10.1007/s10815-020-02003-1}
}
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Vasilyev, Stanislav A., et al. “LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.” Journal of Assisted Reproduction and Genetics, vol. 38, no. 1, Nov. 2020, pp. 139-149. https://doi.org/10.1007%2Fs10815-020-02003-1.
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