Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions
| Autor: | I. N. Lebedev, A. A. Kashevarova, D. I. Zhigalina, R. R. Savchenko, M.E. Lopatkina, N.A. Skryabin, T. V. Nikitina, E. A. Sazhenova |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0106 biological sciences
Genetics 0303 health sciences Microarray analysis techniques Chromosome Biology 01 natural sciences Phenotype Human genetics 03 medical and health sciences HOXD13 Pleiotropy embryonic structures Copy-number variation Gene 030304 developmental biology 010606 plant biology & botany |
| Zdroj: | Russian Journal of Genetics. 55:1214-1226 |
| ISSN: | 1608-3369 1022-7954 |
| DOI: | 10.1134/s1022795419100065 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink