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Mouse models of fanconi anemia

Academic Article
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Overview

authors

  • Parmar, K.
  • D'Andrea, A.
  • Niedernhofer, Laura

publication date

  • July 2009

journal

  • Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis  Journal

abstract

  • Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis of proliferating cells. To date, 13 complementation groups of Fanconi anemia were identified. Five of these genes have been deleted or mutated in the mouse, as well as a sixth key regulatory gene, to create mouse models of Fanconi anemia. This review summarizes the phenotype of each of the Fanconi anemia mouse models and highlights how genetic and interventional studies using the strains have yielded novel insight into therapeutic strategies for Fanconi anemia and into how the Fanconi anemia pathway protects against genomic instability.

subject areas

  • Animals
  • DNA Repair
  • Disease Models, Animal
  • Fanconi Anemia
  • Genomic Instability
  • Mice
  • Mice, Mutant Strains
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Research

keywords

  • Gene targeting
  • Genome instability
  • Interstrand crosslinks
  • Mouse models
  • Stem cells
  • Tumors
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Identity

PubMed Central ID

  • PMC2778466

International Standard Serial Number (ISSN)

  • 0027-5107

Digital Object Identifier (DOI)

  • 10.1016/j.mrfmmm.2009.03.015

PubMed ID

  • 19427003
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Additional Document Info

start page

  • 133

end page

  • 140

volume

  • 668

issue

  • 1-2

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