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Studies on the R595H hydrocephalus-associated mutation on Trim71

ABSTRACT: We studies on how a hydrocephalus-associated mutation (R595H) on Trim71 alters Trim71's substrate mRNA binding

ORGANISM(S): Mus musculus

PROVIDER: GSE201945 | GEO | 2022/05/07

REPOSITORIES: GEO

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Studies on a hydrocephalus-causing mutation on Trim71

Project description:We studies on how a hydrocephalus-causing mutation (R783H) on Trim71 alters Trim71's substrate mRNA binding

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Studies on Trim71 in mouse embryonic stem cells

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A Novel Silent Mutation in the L1CAM Gene causing Fetal Hydrocephalus

Project description:To explore the genetic cause of a Chinese woman with fetal hydrocephalus X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss of function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare, and were usually ignored especially in WES detection. In the present study, we describe a novel silent L1CAM mutation in a Chinese pregnant woman reporting continuous five times pregnancies with fetal hydrocephalus. After fetal blood sampling, we found c.453G>T (p.Gly151=) in L1CAM gene of the fetus by whole exome sequencing (WES), RT-PCR of the mRNA from cord blood mononuclear cells and subsequent sequence analysis identified the mutation created a potential 5' splice site consensus sequence, which would result in an in-frame deletion of 72 bp from exon 5 and 24 amino acids of the L1CAM protein. Heterozygous mutations were confirmed in analyzing DNA and mRNA from peripheral blood mononuclear cells of the woman, and, a severe L1 syndrome was confirmed by fetal ultrasound scan and MRI. Our study first indicated c.453G>T (p.Gly151=) in L1CAM could be disease causing for hydrocephalus, which would aid in genetic counseling for the prenatal diagnosis of hydrocephalus. Meanwhile, it suggested some silent mutations detected in WES should not be ignored, splicing predictions of these mutations were necessary.

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mRNA sequencing of Trim71 conditional ("WT") and Trim71 KO mES cells

Project description:We report that Trim71 mutation does not lead to significant changes within the core regulatory network of mES cells, however, there is an upregulation of specific genes involved in neural differentiation. We thus conclude that Trim71 KO mES cells are poised for differentiation.

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TRIM71R595H/R595H mutations and TRIM71-KO in mESC lead to similar transcriptomic changes, which indicate a poised state toward neural differentiation

Project description:Mutations in TRIM71’s RNA-binding domain leads to congenital hydrocephalus in human patients and a TRIM71 mutant mouse model (Trim71R595H/+). Additionally, homozygous Trim71R595H/R595H mice phenocopy the neural tube defects and premature neural differentiation observed in TRIM71-KO mice. As RNA-Seq analyses revealed that TRIM71-KO mESC are poised for neural differentiation, we aimed to also examine the transcriptomes of TRIM71R595H/R595H and TRIM71R595H/+ mESC. Both TRIM71-KO and TRIM71R595H/R595H mutations in mESC result in transcriptomic changes with similar patterns, when compared to control mESC. Similar to TRIM71-KO, the transcriptome of Trim71R595H/R595H mESC indicates a poised state of mutated mESC towards neural differentiation.

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Project description:We report that Trim71 mutation induces significant changes in the global expression profile of miRNAs in undifferentiated mES cells, rendering the cells prone to differentiation.

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