Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Satchwell, Timothy J.; Pellegrin, Stéphanie; Bianchi, Paola; Hawley, Bethan R.; Gampel, Alexandra; Mordue, Kathryn E.; Budnik, Annika; Fermo, Elisa; Barcellini, Wilma; Stephens, David; Akker, Emile van den; Toye, Ashley M.

doi:10.3324/haematol.2013.085522

Cited by 40 publications

(55 citation statements)

References 51 publications

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“…To support these findings, we found robust protein expression of Sec23a during all stages of terminal erythropoiesis in mice, whereas Sec23b was greatly reduced at the final stages of differentiation, supporting the concept of compensation in the Sec23b knockout animals (Fig. 2D) and confirming a recently reported finding on the differential expression of Sec23 orthologs related to CDA type II (37).…”

Section: Global Gene Expression Changes During Erythroid Terminalsupporting

confidence: 77%

Transcriptional divergence and conservation of human and mouse erythropoiesis

Pishesha

Thiru

Shi

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

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Significance Mouse models have been instrumental in advancing our understanding of blood cell production. Although many studies have suggested specific differences between human and mouse red cell production (erythropoiesis), a global study of such similarities and differences has been lacking. By computationally comparing global gene expression data from adult human and mouse erythroid precursors representing the distinct stages of maturation, we showed that, while the overall transcriptional landscape has changed, critical erythroid gene signatures and transcriptional regulators have remained conserved. Importantly, these analyses can serve as a tool to integrate data between human and mouse erythropoiesis research, explain why certain human blood diseases are not faithfully recapitulated in mouse models, and highlight hurdles in translating therapeutic findings from mice to humans.

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Section: Global Gene Expression Changes During Erythroid Terminalsupporting

confidence: 77%

Transcriptional divergence and conservation of human and mouse erythropoiesis

Pishesha

Thiru

Shi

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

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“…The SEC23A and SEC23B proteins exhibit a high degree of sequence similarity (ϳ85% identical at the amino acid level), suggesting that the 2 SEC23 paralogs may overlap extensively in function and that the disparate phenotypes of SEC23B deficiency in humans and mice could be due to a shift in tissue-specific expression patterns during mammalian evolution. Consistent with this hypothesis, recently reported analyses of SEC23A/B in cultured erythroid progenitors (38) and transcriptomes for human and murine erythroid cells at several stages of terminal maturation (39,40) demonstrated different patterns of SEC23A/SEC23B expression in humans and mice. This is evident particularly in the latest stage of erythroid maturation, with SEC23B the predominant paralog in humans and SEC23A in mice.…”

Section: Discussionsupporting

confidence: 53%

Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B

Khoriaty

Vasievich

Jones

et al. 2014

Molecular and Cellular Biology

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f Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease of ineffective erythropoiesis characterized by increased bi/multinucleated erythroid precursors in the bone marrow. CDAII results from mutations in SEC23B. The SEC23 protein is a core component of coat protein complex II-coated vesicles, which transport secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Though the genetic defect underlying CDAII has been identified, the pathophysiology of this disease remains unknown. We previously reported that SEC23B-deficient mice die perinatally, exhibiting massive pancreatic degeneration, with this early mortality limiting evaluation of the adult hematopoietic compartment. We now report that mice with SEC23B deficiency restricted to the hematopoietic compartment survive normally and do not exhibit anemia or other CDAII characteristics. We also demonstrate that SEC23B-deficient hematopoietic stem cells (HSC) do not exhibit a disadvantage at reconstituting hematopoiesis when compared directly to wild-type HSC in a competitive repopulation assay. Secondary bone marrow transplants demonstrated continued equivalence of SEC23B-deficient and WT HSC in their hematopoietic reconstitution potential. The surprising discordance in phenotypes between SEC23B-deficient mice and humans may reflect an evolutionary shift in SEC23 paralog function and/or expression, or a change in a specific COPII cargo critical for erythropoiesis.

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“…Furthermore, it is interesting to note that dyserythropoiesis manifests itself at different developmental stages in these disorders with defects in erythroid progenitors observed primarily in DBA [17,18], cytokinesis/enucleation defects in congenital dyserythropoietic anemia type I-III (CDA I-III) [19][20][21][22], and apoptosis of terminally differentiating cells in Cooley's anemia and MDS [23][24][25][26][27]. These findings suggest that different dyserythropoietic disorders are driven by perturbations in normal gene expression patterns at distinct developmental stages.…”

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confidence: 99%

Novel methods for studying normal and disordered erythropoiesis

Liu

Han

2015

Sci. China Life Sci.

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Erythropoiesis is a process during which multipotential hematopoietic stem cells proliferate, differentiate and eventually form mature erythrocytes. Interestingly, unlike most cell types, an important feature of erythropoiesis is that following each mitosis the daughter cells are morphologically and functionally different from the parent cell from which they are derived, demonstrating the need to study erythropoiesis in a stage-specific manner. This has been impossible until recently due to lack of methods for isolating erythroid cells at each distinct developmental stage. This review summarizes recent advances in the development of methods for isolating both murine and human erythroid cells and their applications. These methods provide powerful means for studying normal and impaired erythropoiesis associated with hematological disorders. erythropoiesis, erythroid progenitors, erythroblast, surface markers, transcriptional profile Citation:Liu J, Han X, An XL. Novel methods for studying normal and disordered erythropoiesis.

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Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Abstract: ABSTRACTmembrane sculpts the membrane into a vesicle for cargo transport from the ER to the cis Golgi.

Cited by 40 publications

References 51 publications

Transcriptional divergence and conservation of human and mouse erythropoiesis

Transcriptional divergence and conservation of human and mouse erythropoiesis

Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B

Novel methods for studying normal and disordered erythropoiesis

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