Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Orly Dgany,Orly Dgany,Nili Avidan,Jean Delaunay,Tatyana Krasnov,Tatyana Krasnov,Lea Shalmon,Lea Shalmon,Hanna Shalev,Tal Eidelitz-Markus,Joseph Kapelushnik,Daniel Cattan,Alexandre Pariente,Michel Tulliez,Aurore Crétien,Pierre-Olivier Schischmanoff,Achille Iolascon,Eithan Fibach,Ariel Koren,Jochen Rössler,Martine Le Merrer,I Yaniv,Rina Zaizov,Edna Ben-Asher,Tsvyia Olender,Doron Lancet,Jacques S. Beckmann,Hannah Tamary,Hannah Tamary +28 more
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TLDR
These findings, and the cellular phenotype, suggest that codanin-1 may be involved in nuclear envelope integrity, conceivably related to microtubule attachments, as well as underlies normal erythropoiesis.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.read more
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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
Lionel Arnaud,Carole Saison,Virginie Helias,Nicole Lucien,Dominique Steschenko,Marie-Catherine Giarratana,Claude Préhu,Bernard Foliguet,Lory Montout,Alexandre G. de Brevern,Alain Francina,Pierre Ripoche,Odile Fenneteau,Lydie Da Costa,T. Peyrard,Gail Coghlan,Niels Ove Illum,Henrik Birgens,Hannah Tamary,Achille Iolascon,Jean Delaunay,Gil Tchernia,Jean-Pierre Cartron +22 more
TL;DR: The study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans.
Journal ArticleDOI
CATSPER2, a human autosomal nonsyndromic male infertility gene
Nili Avidan,Hannah Tamary,Orly Dgany,Orly Dgany,Daniel Cattan,Alexandre Pariente,Michel Thulliez,N. Borot,Lucien Moati,Alain Barthelme,Lea Shalmon,Lea Shalmon,Tatyana Krasnov,Tatyana Krasnov,Edna Ben-Asher,Tsvyia Olender,Miriam Khen,Issac Yaniv,Rina Zaizov,Hanna Shalev,Jean Delaunay,Marc Fellous,Doron Lancet,Jacques S. Beckmann +23 more
TL;DR: To the best of the knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.
Journal ArticleDOI
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
Hannah Tamary,Hanna Shalev,Galit Perez-Avraham,Meira Zoldan,Itai Levi,Dorine W. Swinkels,Toshihiko Tanno,Jeffery L. Miller +7 more
TL;DR: It is suggested that CDA I patients express very high levels of serum GDF 15, and that GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis.
Journal ArticleDOI
Advances in the understanding of the congenital dyserythropoietic anaemias.
TL;DR: In this paper, a disease gene has been localized to a chromosomal segment in the three major types of CDA and in CDA type I, the predicted protein structure gives few clues as to its function.
Journal ArticleDOI
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.
TL;DR: Molecular diagnosis of CDA is now possible in most patients with the recent identification of the CDA III gene (KIF23), which encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis.
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