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

M. Takata, H. Kitao, M. Ishiai

研究成果: ジャーナルへの寄稿記事

6 引用 (Scopus)

抄録

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.

元の言語英語
ページ(範囲)346-351
ページ数6
ジャーナルCytogenetic and Genome Research
117
発行部数1-4
DOI
出版物ステータス出版済み - 7 1 2007

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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

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

これを引用

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

:: Cytogenetic and Genome Research, 巻 117, 番号 1-4, 01.07.2007, p. 346-351.

研究成果: ジャーナルへの寄稿記事

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