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Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

ABSTRACT: Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

PROVIDER: PRJNA526558 | ENA |

REPOSITORIES: ENA

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Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

| PRJNA480853 | ENA

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

| PRJNA526557 | ENA

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:The use of assisted reproductive technologies (ART) can induce a congenital overgrowth condition in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) and large offspring syndrome (LOS), respectively. Shared phenotypes and epigenotypes have been found between BWS and LOS. We have observed global misregulation of transcripts in bovine foetuses with LOS. microRNAs (miRNAs) are important post-transcriptional gene expression regulators. We hypothesize that there is miRNA misregulation in LOS and that this misregulation is shared with BWS. In this study, small RNA sequencing was conducted to investigate miRNA expression profiles in bovine and human samples. We detected 407 abundant known miRNAs and predicted 196 putative miRNAs from the bovine sequencing results and identified 505 abundant miRNAs in human tongue. Differentially expressed miRNAs (DE-miRNAs) were identified between control and LOS groups in all tissues analysed as well as between BWS and control human samples. DE-miRNAs were detected from several miRNA clusters including DLK1-DIO3 genomic imprinted cluster in LOS and BWS. DNA hypermethylation was associated with downregulation of miRNAs in the DLK1-DIO3. mRNA targets of the DE-miRNAs were predicted and signalling pathways associated with control of organ size (including the Hippo signalling pathway), cell proliferation, apoptosis, cell survival, cell cycle, and cell adhesion were found to be enriched with these genes. Yes associated protein 1 (YAP1) is the core effector of the Hippo signalling pathway, and increased level of active (non-phosphorylated) YAP1 protein was detected in skeletal muscle of LOS foetuses. Overall, our data provide evidence of miRNA misregulation in LOS and BWS.

2019-07-30 | GSE117015 | GEO

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

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Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

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Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

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Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

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Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome.

| S-EPMC6691986 | biostudies-literature

Co-occurrence of Beckwith–Wiedemann Syndrome and colorectal cancer in a young woman

Project description:Beckwith-Wiedemann Spectrum (BWSp) is a disorder predisposing to tumors of embryonic origin that arise during childhood. Little is known concerning the tumor risk and histotype prevalence in adult BWSp patients. However, several studies report cases of co-occurrence of BWSp and tumors in early adulthood, suggesting that the cancer risk in BWSp could be relevant also later than childhood. Here, we report for the first time a case of co-occurrence of BWSp and early-onset colorectal cancer (EO-CRC). The results disclosed genetic and epigenetic molecular lesions of the patient at both somatic and germline levels, providing support to the hypothesis that epigenetic changes contribute to cancer initiation in tissues where a genetic insult is already present, acting in a cooperative manner to stimulate tumorigenesis.

2023-04-01 | GSE224222 | GEO

Allele-specific aberration of imprinted domain chromosome architecture associates with large offspring syndrome [WGBS]

Project description:Large offspring syndrome (LOS) and Beckwith-Wiedemann syndrome are a similar epigenetic congenital overgrowth conditions in ruminants and humans, respectively. We have reported global loss-of-imprinting, methylome epimutations, and global misregulation of genes in LOS. However, less than 4% of gene misregulation can be explained with short range (<20Kb) alterations in DNA methylation. Therefore, we hypothesized that methylome epimutations in LOS affect chromosome architecture which results in misregulation of genes located at distances >20Kb in cis and also in trans (other chromosomes). Our analyses focused on two imprinted domains that frequently show misregulation in these syndromes, namely KvDMR1 and IGF2R. Using bovine fetal fibroblasts, we identified CTCF binding at IGF2R but not KvDMR1, and allele-specific chromosome architecture of these domains in controls. In LOS, analyses identified erroneous long-range contacts and clustering tendency in the direction of expression of misregulated genes. In conclusion, altered chromosome architecture is involved in the etiology of LOS.

2022-04-22 | GSE197129 | GEO

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