Fanconi anemia

Genetic analysis of a human disease using chicken system

M. Takata, Hiroyuki Kitao, M. Ishiai

Research output: Contribution to journalArticle

6 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

Fingerprint

Fanconi Anemia
Chickens
DNA Repair
Biochemical Phenomena
Chromosome Breakage
Cell Line
Gene Conversion
Inborn Genetic Diseases
Sister Chromatid Exchange
Homologous Recombination
DNA
Medical Genetics
Genes
Dissection
Immunoglobulins
B-Lymphocytes
Bone Marrow
Incidence

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cell Biology

Cite this

Fanconi anemia : Genetic analysis of a human disease using chicken system. / Takata, M.; Kitao, Hiroyuki; Ishiai, M.

In: Cytogenetic and Genome Research, Vol. 117, No. 1-4, 01.07.2007, p. 346-351.

Research output: Contribution to journalArticle

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