Fanconi anemia revisited: old ideas and new advances.
作者： Claudia C. dos Santos , Hanna Gavish , Manuel Buchwald
关键词: DNA repair 、 Loss function 、 Fanconi anemia, complementation group C 、 Complementation 、 Biology 、 Fanconi anemia 、 Clone (cell biology) 、 Genetics 、 Leukemia 、 Diepoxybutane
摘要: Abstract. This review summarizes both historical and more recent data on the clinical, cellular genetic features of Fanconi anemia (FA), a rare autosomal recessive disorder. FA patients are characterized by pancytopenia, congenital malformations, growth delay an increased susceptibility to development malignancies, particularly acute myelogenous leukemia. cells show chromosomal fragility, slow sensitivity DNA crosslinking agents. can be caused defects in any one at least four genes. Two general hypotheses have been proposed explain underlying defect: loss repair function or step defense toward oxygen toxicity. After many attempts clone genes, first one, that defective group C, has cloned complementation FA(C) mitomycin C diepoxybutane. gene (FACC) codes for novel protein is ubiquitously expressed. Mutations various cause identified. The concludes suggesting directions future research FA.
sci-hub.se 参考文章(102)
D Schindler, H Hoehn, Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. American Journal of Human Genetics. ,vol. 43, pp. 429- 435 ,(1988)
R. Berger, M. Le Coniat, Cytogenetic Studies in Fanconi Anemia: Induced Chromosomal Breakage and Cytogenetics of Leukemia Fanconi Anemia. pp. 93- 99 ,(1989) , 10.1007/978-3-642-74179-1_8
GP Bagnara, P Strippoli, L Bonsi, MF Brizzi, GC Avanzi, F Timeus, U Ramenghi, G Piaggio, J Tong, M Podesta, Effect of stem cell factor on colony growth from acquired and constitutional (Fanconi) aplastic anemia Blood. ,vol. 80, pp. 382- 387 ,(1992) , 10.1182/BLOOD.V80.2.382.382
BP Alter, ME Knobloch, RS Weinberg, Erythropoiesis in Fanconi's anemia Blood. ,vol. 78, pp. 602- 608 ,(1991) , 10.1182/BLOOD.V78.3.602.602
A Schinzel, H Hoehn, D Schindler, P S Rabinovitch, M Kubbies, Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. American Journal of Human Genetics. ,vol. 37, pp. 1022- 1030 ,(1985)
W. Ebell, W. Friedrich, E. Kohne, Therapeutic Aspects of Fanconi Anemia Fanconi Anemia. pp. 47- 59 ,(1989) , 10.1007/978-3-642-74179-1_4
E. Moustacchi, C. Diatloff-Zito, D. Papadopoulo, M. Buchwald, Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment. Human Genetics. ,vol. 75, pp. 45- 47 ,(1987) , 10.1007/BF00273837
R Pinkham, M Swift, J Cohen, A maximum-likelihood method for estimating the disease predisposition of heterozygotes. American Journal of Human Genetics. ,vol. 26, pp. 304- 317 ,(1974)
Ethel Moustacchi, Dietrich Averbeck, Dora Papadopoulo, Repair of 4,5′,8-Trimethylpsoralen plus Light-induced DNA Damage in Normal and Fanconi's Anemia Cell Lines Cancer Research. ,vol. 48, pp. 2015- 2020 ,(1988)
Fransje J. Dijt, Anne Marie J. Fichtinger-Schepman, Frits Berends, Jan Reedijk, Formation and Repair of Cisplatin-induced Adducts to DNA in Cultured Normal and Repair-deficient Human Fibroblasts Cancer Research. ,vol. 48, pp. 6058- 6062 ,(1988)