GEO DataSets

(Submitter supplied) Ribosomal protein haploinsufficiency (RPH) underlies diverse human diseases with distinct and specific phenotypes, including Diamond-Blackfan anemia (DBA). Although multiple mechanisms have been proposed for the erythroid-specific hematopoietic defects observed in DBA, only recently has the role of selectively impaired translation been highlighted in these phenotypes. Exactly how and to what extent this impairment of translation occurs is currently unknown. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Other

Platform:

GPL16791

14 Samples

Download data: TXT

(Submitter supplied) Diamond Blackfan Anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g. Rps19) or large (e.g. Rpl11) ribosomal subunit are found in over half of these patients. The mutations cause ribosomal haploinsufficiency, which reduces overall translation efficiency of cellular mRNAs. We reduced expression of *Rps19* or *Rpl11* in mouse erythroblasts and investigated mRNA polyribosome association, which revealed deregulated translation initiation of specific transcripts. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL1261

24 Samples

Download data: CEL, TXT

(Submitter supplied) The Affymetrix Human Gene 2.0 ST array was used to measure differential expression of RNA isolated from normal and Diamond Blackfan anemia (DBA) erythroid progenitors after ex vivo expansion of circulating, peripheral blood derived hematopoietic stem cells under erythroid growth conditions. The gene-level probe summaries reported in this series were computed using RMA as implemented in the Bioconductor package Oligo v1.36.1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL16686

37 Samples

Download data: CEL

(Submitter supplied) Gene expression analysis from erythroid progenitors (CD34+/CD71(high)/CD45- mononuclear cells from the bone marrow) of patients with Diamond-Blackfan anemia (due to RPS19 mutations) and control individuals.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL16212

9 Samples

Download data: CEL

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing; Expression profiling by array

Platforms:

GPL19057 GPL6887

132 Samples

Download data

(Submitter supplied) In mice lacking the heme exporter, FLVCR, differentiation fails at the CFU-E/proerythroblast stage from excessive heme and reactive oxygen species. We show that Flvcr1-deleted CFU-E/proerythroblasts have low GATA1 mRNA and GATA1-target gene mRNAs along with increased ribosomal protein mRNAs as a direct result of increased heme. Thus heme increases ribosomal protein transcription when globin production needs to be increased, and when heme is excessive, GATA1 is reduced allowing for normal termination of erythroid differentiation. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6887

5 Samples

Download data: TXT

(Submitter supplied) In mice lacking the heme exporter, FLVCR, differentiation fails at the CFU-E/proerythroblast stage from excessive heme and reactive oxygen species. We show that Flvcr1-deleted CFU-E/proerythroblasts have low GATA1 mRNA and GATA1-target gene mRNAs along with increased ribosomal protein mRNAs as a direct result of increased heme. Thus heme increases ribosomal protein transcription when globin production needs to be increased, and when heme is excessive, GATA1 is reduced allowing for normal termination of erythroid differentiation. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL19057

127 Samples

Download data: TXT

(Submitter supplied) Transcriptional profiling of ProEs purified from wild type and Bmi1-/- mice.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL7042

3 Samples

Download data: TXT

(Submitter supplied) Transcriptional profiling of MEPs purified from wild type and Bmi1-/- mice.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL7042

3 Samples

Download data: TXT

(Submitter supplied) Ribosomopathies are cell-type-specific pathologies related to a ribosomal protein (RP) gene insult. The 5q- syndrome is a somatic ribosomopathy linked to RPS14 gene haploinsufficiency and characterized by a prominent erythroid hypoplasia. Using quantitative proteomic, we show that GATA1 protein expression is low in shRPS14 cells in which ribosome quantities are diminished. Here, we investigated the cause of low GATA1 protein expression in limiting ribosome availability. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

6 Samples

Download data: CEL, TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

21 Samples

Download data: CEL

(Submitter supplied) 5q- syndrome is a somatic ribosomopathy linked to the monoallelic deletion of the RPS14 gene and characterized by a proeminent erythroid phenotype. The mechanism of anemia involves an impaired differentiation and increased apoptosis of erythroblasts. Here we show that GATA1 protein expression is low in line with a defect in the representation of its mRNA at the ribosome. A global analysis of transcripts on polysomes indicates that translation is selective with a decreased representation of the transcripts with a short coding sequence and UTRs and a highly structured 3’UTR, a subset of transcripts that includes GATA1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

6 Samples

Download data: CEL

(Submitter supplied) 5q- syndrome is a somatic ribosomopathy linked to the monoallelic deletion of the RPS14 gene and characterized by a proeminent erythroid phenotype. The mechanism of anemia involves an impaired differentiation and increased apoptosis of erythroblasts. Here we show that GATA1 protein expression is low in line with a defect in the representation of its mRNA at the ribosome. A global analysis of transcripts on polysomes indicates that translation is selective with a decreased representation of the transcripts with a short coding sequence and UTRs and a highly structured 3’UTR, a subset of transcripts that includes GATA1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

9 Samples

Download data: CEL

(Submitter supplied) To comprehensively reflect the impact of RPL11 deficiency on the transcriptome of zebrafish embryos, we collected 40–50 RPL11-deficient and MO control zebrafish embryos at 48 hpf from separate experiments and constructed two mRNA-seq sequencing libraries in parallel. High-throughput sequencing was performed on the Hi-Seq2000 sequencing platform in parallel. The number of sequenced gene transcript reads was 35–40 million. more...

Organism:

Danio rerio

Type:

Expression profiling by high throughput sequencing

Platform:

GPL14875

2 Samples

Download data: TXT

(Submitter supplied) Diamond-Blackfan anemia (DBA) is a congenital disorder that results predominantly from mutations in various ribosomal protein genes. In order to determine how these mutations affect the translation of specific mRNAs, we performed microarray analysis of polysomal transcripts isolated from lymphoblast cells derived from DBA patients carrying different haploinsufficient mutations in either RPS19 or RPL11. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL13183

18 Samples

Download data: TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Danio rerio

Type:

Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing

Platform:

GPL14875

4 Samples

Download data: TXT

(Submitter supplied) In this study, we found RPS24 is required for both the primitive hematopoiesis and definitive hematopoiesis process partly mediated by P53 pathway. With the RNA-seq and miRNA-seq technique, several deregulated genes and miRNAs were found to be related with hematopoiesis, vascular development and apoptosis process in RPS24-deficient zebrafish. Meanwhile, a comprehensive regulatory network was firstly constructed to indentify the mechanisms of key miRNAs and gene pathways in this Model of Diamond-Blackfan Anemia. more...

Organism:

Danio rerio

Type:

Non-coding RNA profiling by high throughput sequencing

Platform:

GPL14875

2 Samples

Download data: TXT

(Submitter supplied) In this study, we found RPS24 is required for both the primitive hematopoiesis and definitive hematopoiesis process partly mediated by P53 pathway. With the RNA-seq and miRNA-seq technique, several deregulated genes and miRNAs were found to be related with hematopoiesis, vascular development and apoptosis process in RPS24-deficient zebrafish. Meanwhile, a comprehensive regulatory network was firstly constructed to indentify the mechanisms of key miRNAs and gene pathways in this Model of Diamond-Blackfan Anemia. more...

Organism:

Danio rerio

Type:

Expression profiling by high throughput sequencing

Platform:

GPL14875

2 Samples

Download data: TXT

(Submitter supplied) Transcriptome profile of highly purified multipotential (P), erythroid (E), and myeloid (M) bone marrow progenitors from three RPS19 mutated Diamond-Blackfan anemia and six control human subjects.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL96

27 Samples

Download data: CEL

(Submitter supplied) We performed genome-wide expression profiling of cells infected with control or RPS14 shRNAs. Keywords: controls vs. shRNA treated

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL3921

24 Samples

Download data: CEL, EXP