Expression of New Red Cell–Related Genes in Erythroid Differentiation

Andrade, Tiago Gomes de; Moreira, Luciana Sarmento; Duarte, Adriana da Silva Santos; Lanaro, Carolina; Albuquerque, Dulcinéia De; Saad, Sara T.O.; Costa, Fernando Ferreira

doi:10.1007/s10528-009-9310-y

Cited by 11 publications

(8 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our whole-genome analysis of Andean high-altitude human dwellers from the two groups (CMS and non-CMS) established ARID1B as a key gene under selection in that population 5 . Supporting the hypothesis that ARID1B has a potential role in the regulation of erythropoiesis at high altitude, previous studies have suggested a possible role of ARID1B in erythroid differentiation 11 , 12 . In β-thalassemia patients, ARID1B is differentially expressed during erythroid development 12 , but its mechanism and role in pathology are still unknown.…”

Section: Introductionmentioning

confidence: 63%

ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge’s disease

et al. 2022

View full text Add to dashboard Cite

At high altitude Andean region, hypoxia-induced excessive erythrocytosis (EE) is the defining feature of Monge’s disease or chronic mountain sickness (CMS). At the same altitude, resides a population that has developed adaptive mechanism(s) to constrain this hypoxic response (non-CMS). In this study, we utilized an in vitro induced pluripotent stem cell model system to study both populations using genomic and molecular approaches. Our whole genome analysis of the two groups identified differential SNPs between the CMS and non-CMS subjects in the ARID1B region. Under hypoxia, the expression levels of ARID1B significantly increased in the non-CMS cells but decreased in the CMS cells. At the molecular level, ARID1B knockdown (KD) in non-CMS cells increased the levels of the transcriptional regulator GATA1 by 3-fold and RBC levels by 100-fold under hypoxia. ARID1B KD in non-CMS cells led to increased proliferation and EPO sensitivity by lowering p53 levels and decreasing apoptosis through GATA1 mediation. Interestingly, under hypoxia ARID1B showed an epigenetic role, altering the chromatin states of erythroid genes. Indeed, combined Real-time PCR and ATAC-Seq results showed that ARID1B modulates the expression of GATA1 and p53 and chromatin accessibility at GATA1/p53 target genes. We conclude that ARID1B is a novel erythroid regulator under hypoxia that controls various aspects of erythropoiesis in high-altitude dwellers.

show abstract

Section: Introductionmentioning

confidence: 63%

ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge’s disease

et al. 2022

View full text Add to dashboard Cite

show abstract

“…It is important to note that the SNP in CPA3 had an MAF of <5%, and previous studies have demonstrated that rare genotypes are more likely to result in spurious findings [35]. Third, the SH3BGRL2 gene is a homolog to the SH3BGR gene, and their protein products belong to the thioredoxin-like protein superfamily of redox-active proteins, including thioredoxin and glutaredoxin [36,37]. Specifically, thioredoxins are proteins that act as antioxidants by facilitating the reduction of other proteins by cysteine thiol-disulfide exchange.…”

Section: Discussionmentioning

confidence: 99%

Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study

et al. 2015

View full text Add to dashboard Cite

Background/Aim: Total fat intake has an important impact on the low-density lipoprotein (LDL) peak particle diameter (LDL-PPD) and may interact with nutrient-sensitive single nucleotide polymorphisms (SNPs). The objective wasto examine whether there is suggestive evidence of SNP × dietary fat intake interaction effects influencing the LDL-PPD in the Quebec Family Study (QFS) in order to generate hypotheses to be tested in larger studies. Methods: SNPs from a genome-wide association study (GWAS) using Illumina Human610-Quad BeadChip, total fat intake derived from a 3-day weighted food record, and SNP × total fat intake interaction effects were examined on LDL-PPD in 541 QFS subjects. Results: The GWAS analyses 29 identified independent SNP × total fat intake interaction effects on the LDL-PPD at p < 10^-5, including SNPs in the following genes: ABCG2, CPA3, FNBP1, KCNQ3, NBAS, NCALD, OPRL1, NKAIN2, SH3BGRL2, SOX5, and SUSD4. Conclusions: This observational study suggests that multiple SNPs interact with dietary fat intake to influence variation in the LDL-PPD.

show abstract

“…The detailed mechanism of how ZHX2 affects the abundance of γ-globin mRNA is currently unknown. Intriguingly, during the preparation of this manuscript de Andrade et al 16 reported the marked down regulation of ZHX2 in CD34+ cells cultured in a high foetal haemoglobin enriched condition. Given the inverse correlation between ZHX2 and the γ-globin gene in CD34+, our findings not only supports the idea that ZHX2 is involved in the repression of γ-globin gene but also provides evidence that ZHX2 has a direct effect on the γ-globin expression level and might participate in globin gene regulation.…”

Section: Zhx2 and γ-Globin Gene Expression Profile In K562mentioning

confidence: 75%

Untitled

Panya¹,

Sawasdee²,

Srisawat

et al. 2010

ScienceAsia

View full text Add to dashboard Cite

During the last few decades, foetal haemoglobin reactivation has been considered as a promising intervention to treat β-thalassaemia and sickle-cell anaemia. Variable foetal haemoglobin (Hb F, α2γ2) production among individuals is under control of distinct chromosome regions, namely, the quantitative trait loci (QTL). One of the QTL affecting Hb F levels on chromosome 8q has never been explored. The zinc fingers and homeodomains 2 (ZHX2) transcription factor located at 8q position is remarkably down-regulated in hereditary persistence of foetal haemoglobin, indicating an inverse correlation between the γ-globin and ZHX2 expression. Here we studied the effect of ZHX2 over the γ-globin expression in K562 erythroleukaemic cell line by transient transfection with a ZHX2 expression plasmid. At 24 h after transfection, the relative expression of endogenous γ-globin mRNA had been reduced to 0.401 ± 0.08 as assessed by real-time PCR. Our finding suggests that the repressive effect on γ-globin probably results from the presence of ZHX2 and supports its possible involvement in the regulation of γ-globin expression.

show abstract

Expression of New Red Cell–Related Genes in Erythroid Differentiation

Cited by 11 publications

References 19 publications

ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge’s disease

ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge’s disease

Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study

Untitled

Contact Info

Product

Resources

About