ArticleHuman genetics2012
Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Modelling the Human Blood-Brain Barrier in Huntington Disease.International journal of molecular sciences · 2022Article
- Identification of a novel gene signature in second-trimester amniotic fluid for the prediction of preterm birth.Scientific reports · 2022Article
- [Differential expression profile of miRNAs in amniotic fluid exosomes from fetuses with Down syndrome].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2022Article
- Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18.Frontiers in cell and developmental biology · 2022Article
- Article
- Transcriptomic Analysis of Cell-free Fetal RNA in the Amniotic Fluid of Vervet Monkeys (Comparative medicine · 2020Article
- Functional analysis of cell-free RNA using mid-trimester amniotic fluid supernatant in pregnancy with the fetal growth restriction.Medicine · 2018Article
- Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.Omics : a journal of integrative biology · 2017Article
- Secrets of life in a spoonful of blood.Nature · 2017Article
- Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Prenatal diagnosis · 2017Article
- An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.Scientific reports · 2016Article
- microRNA Profiling of Amniotic Fluid: Evidence of Synergy of microRNAs in Fetal Development.PloS one · 2016Article
- New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.Journal of anatomy · 2015Article
- The amniotic fluid transcriptome as a guide to understanding fetal disease.Cold Spring Harbor perspectives in medicine · 2015Review
- Comparative Transcriptome Analysis of Cell-Free Fetal RNA from Amniotic Fluid and RNA from Amniocytes in Uncomplicated Pregnancies.PloS one · 2015Article
- Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.Human genetics · 2014Article
- Maternal obesity affects fetal neurodevelopmental and metabolic gene expression: a pilot study.PloS one · 2014Article
- Global gene expression analysis of term amniotic fluid cell-free fetal RNA.Obstetrics and gynecology · 2013Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Trisomies 18 and 21 are the two most common live born autosomal aneuploidies in humans. While the anatomic abnormalities in affected fetuses are well documented, the dysregulated biological pathways associated with the development of the aneuploid phenotype are less clear. Amniotic fluid (AF) cell-free RNA is a valuable source of biological information obtainable from live fetuses. In this study, we mined gene expression data previously produced by our group from mid-trimester AF supernatant samples. We identified the euploid, trisomy 18 and trisomy 21 AF transcriptomes, and analyzed them with a particular focus on the nervous system. We used multiple bioinformatics resources, including DAVID, Ingenuity Pathway Analysis, and the BioGPS Gene Expression Atlas. Our analyses confirmed that AF supernatant from aneuploid fetuses is enriched for nervous system gene expression and neurological disease pathways. Tissue analysis showed that fetal brain cortex and Cajal-Retzius cells were significantly enriched for genes contained in the AF transcriptomes. We also examined AF transcripts known to be dysregulated in aneuploid fetuses compared with euploid controls and identified several brain-specific transcripts among them. Many of these genes play critical roles in nervous system development. NEUROD2, which was downregulated in trisomy 18, induces neurogenic differentiation. SOX11, downregulated in trisomy 21, is a transcription factor that is essential for pan-neuronal protein expression and axonal growth of sensory neurons. Our results show that whole transcriptome analysis of cell-free RNA in AF from live pregnancies permits discovery of biomarkers of abnormal human neurodevelopment and advances our understanding of the pathophysiology of aneuploidy.
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