Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

Détails

ID Serval
serval:BIB_32007FA54964
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
Périodique
American Journal of Human Genetics
Auteur(s)
Dgany  O., Avidan  N., Delaunay  J., Krasnov  T., Shalmon  L., Shalev  H., Eidelitz-Markus  T., Kapelushnik  J., Cattan  D., Pariente  A., Tulliez  M., Cretien  A., Schischmanoff  P. O., Iolascon  A., Fibach  E., Koren  A., Rossler  J., Le Merrer  M., Yaniv  I., Zaizov  R., Ben-Asher  E., Olender  T., Lancet  D., Beckmann  J. S., Tamary  H.
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
12/2002
Volume
71
Numéro
6
Pages
1467-74
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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.
Mots-clé
Amino Acid Sequence Anemia, Dyserythropoietic, Congenital/*genetics Base Sequence Chromosomes, Human, Pair 15/genetics Consanguinity Erythropoiesis Exons/genetics Female Glycoproteins/chemistry/*genetics Humans Israel Male Molecular Sequence Data Mutation/*genetics Pedigree Phenotype Protein Structure, Tertiary RNA, Messenger/genetics/metabolism Sequence Alignment
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 14:17
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