A Krüppel-like factor 1 ( KLF1 ) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity-Reference-Cited by-同舟云学术

A Krüppel-like factor 1 ( KLF1 ) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity

Published:2020-02-12 Issue:5 Volume:40 Page:
ISSN:0270-7306
Container-title:Molecular and Cellular Biology
language:en
Short-container-title:Mol Cell Biol

Author:

Kulczynska Klaudia¹,Bieker James J.²,Siatecka Miroslawa¹^ORCID

Affiliation:

1. Department of Genetics, Institute of Experimental Biology, University of Adam Mickiewicz, Poznan, Poland

2. Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA

Abstract

Krüppel-like factor 1 (KLF1/EKLF) is a transcription factor that globally activates genes involved in erythroid cell development. Various mutations are identified in the human KLF1 gene. The E325K mutation causes congenital dyserythropoietic anemia (CDA) type IV, characterized by severe anemia and non-erythroid-cell-related symptoms. The CDA mutation is in the second zinc finger of KLF1 at a position functionally involved in its interactions with DNA.

Funder

HHS | National Institutes of Health

Narodowe Centrum Nauki

Publisher

American Society for Microbiology

Subject

Cell Biology,Molecular Biology

Link

https://journals.asm.org/doi/pdf/10.1128/MCB.00444-19

Reference80 articles.

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2. Erythroid Krüppel-like transcription factor (Eklf) maps to a region of mouse Chromosome 8 syntenic with human Chromosome 19