Genotypic and phenotypic expressions of protein 4.2 in human erythroid cells

Yawata, Yoshihito; Kanzaki, Akio; Yawata, Ayumi

doi:10.1002/1438-826x(200009)1:2<61::aid-gnfd61>3.0.co;2-7

Cited by 8 publications

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“…The seven different mutations of the P4.2 gene have been classified as five missense mutations and two frameshift mutations [13,14]. Most mutations were located in the coding regions of these genes, rarely in their promoters.…”

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confidence: 99%

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The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes

et al. 2001

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Indrikis Muiznieks 1,5The state of methylation of the 5Ј-CpG-3Ј sites is known to be linked to the regulation of Birgit Schmitz 1 promoter function by modulating DNA-protein interactions and to the structure of chromaGudrun Schell 1 tin. As part of a project to determine methylation patterns in the human genome, the Yoshihito Yawata 2 methylation profiles were examined in genes for the human erythroid membrane proteins; Walter Doerfler 1 protein 4.2 (P4.2), gene (ELB42), band 3 (B3), gene (EPB3), and β-spectrin (β-Sp), gene 1 Institute of Genetics, University (SPTB). The bisulfite protocol of the genomic sequencing method was applied.(1) In the of Cologne, Köln, Germany DNA from peripheral white blood cells, the promoter regions of EPB3 and ELB42 were 2 Division of Hematology, extensively methylated, but the promoter of SPTB was totally unmethylated. (2) During Department of Medicine, erythroid differentiation, (i) ELB42 was unmethylated in DNAs from the cell line UT-7/EPO, Kawasaki Medical School, but became methylated (55Ϫ93%) in cultured erythroblasts from peripheral BFU-E. The Kurashiki City, Japan mRNA from ELB42 was first detected in early erythroblasts and protein 4.2 was expressed Present addresses: in late erythroblasts. (ii) EPB3 was consistently methylated in UT-7/EPO and also in cultu-3 Institute of Human Genetics red erythroblasts from burst forming unit erythroid (BFU-E) from peripheral blood. EPB3 and Anthropology, Heinrichand ELB42 were efficiently transcribed in UT-7 cells only after erythropoietin stimulation. Heine-University, Duesseldorf, (iii) SPTB remained unmethylated in DNAs from UT-7/EPO and cultured erythroblasts. (3) Germany 4 Institute of Human Genetics, We also investigated methylation profiles in peripheral white blood cells from patients with University of Essen Medical erythroid diseases, like complete P4.2 deficiency due to ELB42 mutations, hereditary School, Essen, Germany spherocytosis with EPB3 mutations, and hereditary elliptocytosis with SPTB mutations. 5 Department of Microbiology,The methylation profiles of the promoter regions of these three genes were essentially Latvian University, Riga, Latvia identical to those in healthy individuals.

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confidence: 99%

“…: P4.2 Nippon[13,14,24,25,54], P4.2 Shiga[27], and P4.2 Komatsu [26]. In these complete deficiencies of B3 or P4.2, homozygous patients can suffer from uncompensated hemolytic anemia, but can tolerate these abnormalities.…”

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The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes

et al. 2001

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Anchoring Proteins of the Erythrocyte Membrane

Yawata

2008

Protein Science Encyclopedia

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Originally published in: Cell Membrane. Yoshihito Yawata. Copyright © 2003 Wiley‐VCH Verlag GmbH & Co. KGaA Weinheim. Print ISBN: 3‐527‐30463‐9 The sections in this article are Ankyrin Introduction Structure of Red Cell Ankyrin Membrane (Band 3)‐Binding Domain of Ankyrin Spectrin‐Binding Domain of Ankyrin Regulatory Domain of Ankyrin Functions of Ankyrin Erythroid and Nonerythroid Ankyrins Protein 4.2 Protein Chemistry of Protein 4.2 Functions of Protein 4.2 Binding Properties of Protein 4.2 Transglutaminase Activity of Protein 4.2 Phosphorylation of Protein 4.2 Protein 4.2 in Red Cell Membrane Ultrastructure Protein 4.2 Gene Characteristics of Genomic DNA c DNA of the Protein 4.2 Gene Protein 4.2 Gene in Mouse Red Cells Tissue‐Specific Expression of the Mouse Protein 4.2 Gene and the Pallid Mutation

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Ankyrin gene mutations in japanese patients with hereditary spherocytosis

et al. 2001

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We studied mutations of the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with hereditary spherocytosis (HS). Forty-nine patients from 46 unrelated families were included in this study. Of these patients, 19 cases from 16 unrelated families had HS of autosomal-dominant inheritance, and 30 patients had non-autosomal-dominant HS. Fifteen mutations of the ANK-1 gene pathognomonic for HS were identified: 4 nonsense mutations, 7 frameshift mutations, and 4 abnormal splicing mutations. These 15 mutations have not been previously reported. The frameshift mutations were found from exon 1 to exon 26, corresponding particularly to the band 3-binding domain of ankyrin. The nonsense mutations, on the contrary, were present mostly at the 3'-terminal side, especially in the spectrin-binding domain and the regulatory domain. The patients with ankyrin gene mutations tended to be more anemic with a higher level of reticulocytosis than those without these mutations. Fifteen silent mutations of the ANK-1 gene, most of which have previously been detected in HS patients in Western populations, were also found. The allele frequency of these silent mutations in the HS patients was nearly identical to that in normal subjects. There was no difference between the Japanese and Western populations in the allele frequency of these gene polymorphisms in healthy subjects or HS patients.

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Genotypic and phenotypic expressions of protein 4.2 in human erythroid cells

Cited by 8 publications

References 70 publications

The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes

The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes

Anchoring Proteins of the Erythrocyte Membrane

Ankyrin gene mutations in japanese patients with hereditary spherocytosis

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