LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy
| Autor: | D. I. Zhigalina, Vasilissa A Lee, T. V. Nikitina, S. A. Vasilyev, Oksana Yu Vasilyeva, E. A. Sazhenova, I. N. Lebedev, E. N. Tolmacheva, Lada A. Zatula, Ekaterina S Serdyukova, A. A. Kashevarova, Anton V. Markov |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Aneuploidy Embryonic Development Biology Miscarriage Andrology 03 medical and health sciences 0302 clinical medicine Pregnancy Genetics medicine Humans Genetics (clinical) 030219 obstetrics & reproductive medicine метилирование ДНК анеуплоидия Obstetrics and Gynecology Trisomy 16 Karyotype General Medicine Methylation DNA Methylation medicine.disease Abortion Spontaneous Pregnancy Trimester First 030104 developmental biology medicine.anatomical_structure Long Interspersed Nucleotide Elements Reproductive Physiology and Disease Reproductive Medicine ретротранспозоны DNA methylation Chorionic villi Female Chorionic Villi Trisomy Developmental Biology |
| Zdroj: | J Assist Reprod Genet Journal of assisted reproduction and genetics. 2021. Vol. 38, № 1. P. 139-149 |
| ISSN: | 1573-7330 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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