LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy

doi:10.1007/s10815-020-02003-1

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2021 | Lebedev, Igor N.

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DOI Доступ к ресурсу на сайте издателя			10.1007/s10815-020-02003-1

#ретротранспозоны

#метилирование ДНК

#анеуплоидия

Title: LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy
Creator: Vasilyev, Stanislav A.
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Tolmacheva, Ekaterina N.
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Vasilyeva, Oksana Yu.
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Markov, Anton V.
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Zhigalina, Daria I.
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Zatula, Lada A.
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Lee, Vasilissa A.
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Serdyukova, Ekaterina S.
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Sazhenova, Elena A.
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Nikitina, Tatyana V.
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Kashevarova, Anna A.
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Lebedev, Igor N.
Date: 2021
DOI: 10.1007/s10815-020-02003-1
Description: Purpose 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. Methods 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. Results 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). Conclusion 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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collection(s): Институт биологии, экологии, почвоведения, сельского и лесного хозяйства (Биологический институт)
Identifier: смотреть в электронном каталоге НБ ТГУ
Type: статьи в журналах
Source: Journal of assisted reproduction and genetics. 2021. Vol. 38, № 1. P. 139-149
Language: eng

Created: 05-05-2022

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Институт биологии, экологии, почвоведения, сельского и лесного хозяйства (Биологический институт) LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy