Fanconi anemia: Genetic analysis of a human disease using chicken system

M. Takata, H. Kitao, M. Ishiai

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Fanconi anemia (FA) is a rare hereditary disorder characterized by skeletal abnormalities, bone marrow failure, and an increased incidence of cancer. The basic cellular abnormality in FA has been postulated to lie in the DNA repair mechanisms because cells from FA patients display chromosomal breakage, which is particularly remarkable following induction of DNA crosslinks. However, experimental evidence for this hypothesis has been lacking. To test whether DNA repair is really defective in FA cells, we disrupted several FA genes in chicken B cell line DT40. By measuring efficiency of gene conversion and hypermutation at the Immunoglobulin locus, we have shown that DT40 FA mutant cell lines exhibited defects in homologous DNA recombination, and possibly, translesion synthesis. However, levels of sister chromatid exchange, another important cellular event mediated by HR, were not reduced, possibly indicating the role of FA genes only in a subpathway of HR. Our results indicate that chicken DT40 cells could be highly useful in molecular dissection of basic biochemical processes, which are deficient in a human genetic disorder.

Original languageEnglish
Pages (from-to)346-351
Number of pages6
JournalCytogenetic and Genome Research
Volume117
Issue number1-4
DOIs
Publication statusPublished - Jul 1 2007
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Fanconi anemia: Genetic analysis of a human disease using chicken system'. Together they form a unique fingerprint.

Cite this