Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation

Author:

Saito Kei1,Fujiwara Tohru1,Hatta Shunsuke1,Morita Masanobu2,Ono Koya1,Suzuki Chie13,Fukuhara Noriko1,Onishi Yasushi1,Nakamura Yukio4,Kawamata Shin5,Shimizu Ritsuko6,Yamamoto Masayuki27,Harigae Hideo1

Affiliation:

1. Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan

2. Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, Sendai, Japan

3. Department of Laboratory, Tohoku University Hospital, Sendai, Japan

4. Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan

5. Division of Cell Therapy, Foundation of Biomedical Research and Innovation, Kobe, Japan

6. Department of Molecular Hematology, Tohoku University Graduate School of Medicine, Sendai, Japan

7. Tohoku Medical Magabank Organization, Tohoku University, Sendai, Japan

Abstract

Ring sideroblasts are a hallmark of sideroblastic anemia, although little is known about their characteristics. Here, we first generated mutant mice by disrupting the GATA-1 binding motif at the intron 1 enhancer of the ALAS2 gene, a gene responsible for X-linked sideroblastic anemia (XLSA).

Funder

MEXT | Japan Society for the Promotion of Science

Publisher

American Society for Microbiology

Subject

Cell Biology,Molecular Biology

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