ArticleAmerican journal of human genetics2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 171 citations in OpenAlex.
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).Blood cells, molecules & diseases · 2021Trial
- Congenital Dyserythropoietic Anemia Type I in Association with CDAN1 c.2605 G>A Homozygous Mutation.Cureus · 2026Article
- Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.The FEBS journal · 2026Article
- Codanin-1, defective in congenital dyserythropoietic anemia I (CDA-I), regulates erythroid differentiation.Annals of hematology · 2025Article
- Mechanism of ASF1 engagement by CDAN1.Nature communications · 2025Article
- CODANIN-1 sequesters ASF1 by using a histone H3 mimic helix to regulate the histone supply.Nature communications · 2025Article
- Hereditary disorders of ineffective erythropoiesis.Blood cells, molecules & diseases · 2025Review
- Whole Blood Transcriptome Analysis in Congenital Anemia Patients.International journal of molecular sciences · 2024Article
- Mechanism of ASF1 Inhibition by CDAN1.bioRxiv : the preprint server for biology · 2024Article
- Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.Nature communications · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Article
- Ablation ofInternational journal of molecular sciences · 2022Article
- Epigenetic and Transcriptional Control of Erythropoiesis.Frontiers in genetics · 2022Review
- [Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- Vesicular formation regulated by ERK/MAPK pathway mediates human erythroblast enucleation.Blood advances · 2021Article
- Regulation of RNA polymerase II activity is essential for terminal erythroid maturation.Blood · 2021Article
- Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.Haematologica · 2021Article
- Genetic and functional insights into CDA-I prevalence and pathogenesis.Journal of medical genetics · 2021Article
- The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.International journal of molecular sciences · 2021Review
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Authors and funding
25 authors at 15 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. A cluster of 45 highly inbred Israeli Bedouin with CDAI enabled the mapping of the CDAN1 disease gene to a 2-Mb interval, now refined to 1.2 Mb, containing 15 candidate genes on human chromosome 15q15 (Tamary et al. 1998). After the characterization and exclusion of 13 of these genes, we identified the CDAN1 gene through 12 different mutations in 9 families with CDAI. This 28-exon gene, which is transcribed ubiquitously into 4738 nt mRNA, was reconstructed on the basis of gene prediction and homology searches. It encodes codanin-1, a putative o-glycosylated protein of 1,226 amino acids, with no obvious transmembrane domains. Codanin-1 has a 150-residue amino-terminal domain with sequence similarity to collagens and two shorter segments that show weak similarities to the microtubule-associated proteins, MAP1B (neuraxin) and synapsin. These findings, and the cellular phenotype, suggest that codanin-1 may be involved in nuclear envelope integrity, conceivably related to microtubule attachments. The specific mechanisms by which codanin-1 underlies normal erythropoiesis remain to be elucidated.
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