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Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions

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Abstract

Using chromosome microarray analysis, 52 samples of placental tissues from first trimester human spontaneous abortions were examined. One hundred twenty copy number variations (CNVs) were identified, affecting one or more genes (total of 427 genes). Using enrichment analysis with the mammalian phenotype ontology, all genes were divided into 183 categories (p ≤ 0.05). The embryogenesis category included 22 genes: AIP, BMP4, BMP5, CDKN1C, EXT1, GAB1, H19, HOXD13, IGF2, KIT, LDHA, NKX2-5, NRK, PEG3, PHLDA2, SMCHD1, SMN1, TBX3, TGIF1, TH, TLX2, and TRR. In this paper, the functions of each of the above genes and pathological phenotypes associated with mutations in them are discussed. A hypothesis of the pleiotropic effect of genes involved in CNVs in spontaneous abortions is proposed.

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ACKNOWLEDGMENTS

The study was carried at the Medical Genomics Center for Collective Use, using the biological collection of the Biobank of Northern Eurasia of the Research Institute of Medical Genetics, Tomsk National Research Medical Center.

Funding

This work was supported by the Russian Foundation for Basic Research (grant no. 14-04-32047) and the state task for the Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (state registration number AAAA-A19-119020890005-5).

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  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center, 634050, Tomsk, Russia

    A. A. Kashevarova, N. A. Skryabin, T. V. Nikitina, M. E. Lopatkina, E. A. Sazhenova, D. I. Zhigalina, R. R. Savchenko & I. N. Lebedev

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  1. A. A. Kashevarova
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  2. N. A. Skryabin
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  3. T. V. Nikitina
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  4. M. E. Lopatkina
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  6. D. I. Zhigalina
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  7. R. R. Savchenko
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  8. I. N. Lebedev
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Correspondence to A. A. Kashevarova.

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Statement of compliance with standards of research involving humans as subjects. All procedures carried out in the study with the participation of people comply with the ethical standards of the institutional and/or national research ethics committee and the 1964 Helsinki Declaration and its subsequent changes or comparable standards of ethics. Informed voluntary consent was obtained from each of the participants in the study.

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Kashevarova, A.A., Skryabin, N.A., Nikitina, T.V. et al. Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions. Russ J Genet 55, 1214–1226 (2019). https://doi.org/10.1134/S1022795419100065

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