Related Experiment Video

Updated: Jun 22, 2026

A Comprehensive Pipeline to Assess the Efficiency of Human Erythropoiesis In Vitro and Ex Vivo
08:53

A Comprehensive Pipeline to Assess the Efficiency of Human Erythropoiesis In Vitro and Ex Vivo

Published on: January 10, 2025

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz1, Achille Iolascon, Fatima Verissimo

  • 1Institute for Transfusion Medicine, University of Ulm, Ulm, Germany. klaus.schwarz@uni-ulm.de

Nature Genetics
|June 30, 2009
PubMed

Insights

Mutations in the SEC23B gene cause Congenital Dyserythropoietic Anemia type II (CDAI). This secretory protein is crucial for normal red blood cell maturation and cytokinesis.

Area of Science:

  • Hematology
  • Cell Biology
  • Genetics

Background:

  • Congenital dyserythropoietic anemias (CDAs) are a group of inherited blood disorders.
  • CDA type II (CDAII) is the most common form, characterized by ineffective red blood cell production and specific cellular abnormalities.
  • These abnormalities include multinucleated erythroblasts, suggesting a defect in cell division (cytokinesis).

Purpose of the Study:

  • To identify the genetic cause of CDAII.
  • To investigate the role of SEC23B in erythropoiesis and cytokinesis.

Main Methods:

  • Genetic analysis of CDAII patients.
  • Short hairpin RNA (shRNA)-mediated gene silencing in cell cultures.
  • Zebrafish model for in vivo gene knockdown studies.

Main Results:

  • Mutations in the SEC23B gene were identified as the cause of CDAII.
  • SEC23B suppression in cell cultures mimicked the cytokinesis defect observed in CDAII.
  • Knockdown of the zebrafish sec23b gene resulted in abnormal red blood cell development.

Conclusions:

  • SEC23B is essential for proper erythrocyte maturation and cytokinesis.
  • SEC23B plays a specific, non-redundant role in red blood cell development, distinct from its paralog SEC23A.
  • These findings elucidate the molecular basis of CDAII and highlight SEC23B's importance in erythropoiesis.

More Related Videos

Mouse Fetal Liver Culture System to Dissect Target Gene Functions at the Early and Late Stages of Terminal Erythropoiesis06:40

Mouse Fetal Liver Culture System to Dissect Target Gene Functions at the Early and Late Stages of Terminal Erythropoiesis

Published on: September 9, 2014

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Overview of Secretory Vesicles01:33

Overview of Secretory Vesicles

Secretory vesicles, also known as dense core vesicles (DCVs), are membrane-bound vesicles that transport secretory proteins, such as hormones or neurotransmitters. Regulated secretory vesicles transport proteins from the trans-Golgi network to the exterior of the cell. Proteins present in regulated secretory vesicles are required to be rapidly exocytosed in large amounts upon a specific stimulus.
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...
Coat Assembly and GTPases01:33

Coat Assembly and GTPases

Vesicles incorporate different coat protein subunits in different cell locations, which changes the properties of the coat, such as the shape and geometry of the transport vesicles. Thus, vesicle coat proteins also play a significant role in cargo selection.
Coat assembly depends on the local availability of phosphatidylinositol phosphates or PIPs and GTP-binding proteins. Adaptor proteins, which link the coat proteins to the membrane, bind to these PIPs and play a crucial role in controlling...
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...