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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1  Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna.

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Presentation on theme: "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1  Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna."— Presentation transcript:

1 Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 
Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, 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, Isaac Yaniv, Rina Zaizov, Edna Ben-Asher, Tsvyia Olender, Doron Lancet, Jacques S. Beckmann, Hannah Tamary  The American Journal of Human Genetics  Volume 71, Issue 6, Pages (December 2002) DOI: /344781 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Physical map and genomic organization of the CDAN1 locus. a, Relative positions of landmark microsatellite markers are indicated in the CDAI candidate interval defined by markers D15S779 and D15S778. The CDA1 interval is indicated by green and brown arrows. An informative SNP (pink) within the newly defined transcript LOC enabled us to restrict the linkage interval. The genes and transcripts identified are boxed: known genes in green, unknown transcripts in blue, inferred genes in purple, CDAN1 in red. The expression patterns of these genes were tested by RT-PCR on RNA from erythroid precursor cells (Pope et al. 2000) and are marked by a plus sign (+) or a minus sign (−) in the Express lane. Resequenced genes are marked by a plus sign (+) or a minus sign (−) in the Reseq lane. b, Expanded view of the 15-kb segment showing the genomic organization of CDAN1 and of two alternative transcripts isolated and sequenced from erythroid and fibroblast cells. Coding and noncoding exons are depicted as filled and open boxes, respectively. Red and blue exons are based on two partial transcripts, DKFZp434G2127 and BI855138, respectively. Green and pink exons are based on gene prediction and RT-PCR, respectively. The lengths of the corresponding transcripts and inferred proteins are indicated to the right. The American Journal of Human Genetics  , DOI: ( /344781) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

3 Figure 2 The mutation in a Bedouin family. A, Pedigree of a Bedouin family, showing the segregation of the founder chromosome with the disease. B, Sequence chromatogram from a wild-type (WT) and diseased (M) genotype showing a C→T substitution in exon 25, converting arginine to tryptophan at codon 863. C, Segregation of the Bedouin mutation, as assayed by NcoI restriction. A 412-bp PCR product is generated between the F and R primers. The mutation results in a gain of restriction site and, therefore, the restriction digest produced fragments of 175 and 237 bp, instead of the 412-bp band observed in healthy individuals. The American Journal of Human Genetics  , DOI: ( /344781) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Northern blot analysis. Panels A and B show CDAN1 and β-actin mRNA exposed for 1 week and overnight, respectively. The membrane was purchased from Clontech and was hybridized according to the manufacturer’s instructions. The membrane was first probed with codanin-1 (exons 26–28 [fig. 1]) and subsequently reprobed with β-actin cDNA as an internal control. The American Journal of Human Genetics  , DOI: ( /344781) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Multiple alignment of human codanin-1. Multiple alignment with its putative mouse and fugu orthologs. Identical and similar residues in the multiple-alignment chart are represented by asterisks (*) and colons (:), respectively; weak conservation is represented by periods (.). Conserved BLOCKS are confined within blue boxes. Shaded boxes are used for known block similarity: green, fibrillar collagens (IPB00885) (A, G); pink box, MAP1B (IPB000102) (C, E). Arrows indicate positions of mutated residues; green and blue arrows specify missense mutations within families I–VI and VII–IX, respectively, and red arrows specify null mutations. Note the cluster of mutations around aa 1034–41 and 866–867. The thick black arrow indicates the region with shared similarity to fibrillar collagens. The thin black line represents a split between exons. The American Journal of Human Genetics  , DOI: ( /344781) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

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