Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1α localization in erythroblasts
Open accessAbstract
Congenital dyserythropoietic anemia type 1 (CDA-1), a rare inborn anemia characterized by abnormal chromatin ultrastructure in erythroblasts, is caused by abnormalities in codanin-1, a highly conserved protein of unknown function. We have produced 3 monoclonal antibodies to codanin-1 that demonstrate its distribution in both nucleus and cytoplasm by immunofluorescence and allow quantitative measurements of patient and normal material by Western blot. A detailed analysis of chromatin structure in CDA-1 erythroblasts shows no abnormalities in overall histone composition, and the genome-wide epigenetic landscape of several histone modifications is maintained. However, immunofluorescence analysis of intermediate erythroblasts from patients with CDA-1 reveals abnormal accumulation of HP1α in the Golgi apparatus. A link between mutant codanin-1 and the aberrant localization of HP1α is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1α antibodies. Furthermore, we show colocalization of codanin-1 with Sec23B, the protein defective in CDA-2 suggesting that the CDAs might be linked at the molecular level. Mice containing a gene-trapped Cdan1 locus demonstrate its widespread expression during development. Cdan1gt/gt homozygotes die in utero before the onset of primitive erythropoiesis, suggesting that Cdan1 has other critical roles during embryogenesis.
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Polymorphisms in the CDAN1 gene are associated with congenital dyserythropoietic anemia type 1.
“Polymorphisms in this gene are associated with congenital dyserythropoietic anemia type 1 (Dgany et al., 2002; Renella et al., 2011).”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Renella et al., 2011
The Introduction states that a large majority of CDA-1 cases are associated with missense mutations in CDAN1, and the Discussion likewise attributes most cases to CDAN1 mutations. The paper supports the gene–disease association, but it identifies pathogenic mutations rather than polymorphisms specifically. (LLM, conf=0.83)
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- Authors
- Renella, R., Roberts, N. A., Brown, J. M., De Gobbi, M., Bird, L. E., Hassanali, T., Sharpe, J. A., Sloane-Stanley, J., Ferguson, D. J. P., Cordell, J., Buckle, V. J., Higgs, D. R., & Wood, W. G.
- Affiliations
- John Radcliffe Hospital (GB)
- Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom;
- Centre for Human Genetics (GB)
- University of Oxford (GB)
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2011-06-23
- Volume
- 117
- Issue
- 25
- Pages
- 6928-6938
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2080718009
- Cited by
- 54
- References
- 36
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 9 · 2019: 4 · 2018: 4 · 2017: 1 · 2016: 2 · 2015: 4 · 2014: 3 · 2013: 4 · 2012: 6
- FWCI
- 1.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- IRIS (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Funders
- Wellcome Trust
- University of Oxford
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- HP1α, erythroblasts, Golgi localization, chromatin ultrastructure, histone modifications, SEC23B, embryonic lethality, erythropoiesis, monoclonal antibodies
- MeSH terms
- Chromobox Protein Homolog 5, Anemia, Dyserythropoietic, Congenital, Animals, Carrier Proteins, Cells, Cultured, Chromatin, Chromosomal Proteins, Non-Histone, Erythroblasts, Female, Glycoproteins, Humans, Male, Mice, Inbred C57BL, Mutation, Nuclear Proteins, Vesicular Transport Proteins, Cell Line, Tumor, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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