Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis
Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis
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DOI：
10.1182/blood.v94.2.818.414k33_818_824
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发表时间：
1999-07-15
期刊：
影响因子：
20.3
通讯作者：
Youssoufian, H
中科院分区：
文献类型：
--
作者：
Abu-Issa, R;Eichele, G;Youssoufian, H
约80%的Fanconi贫血(FA)病例可由互补组A和C解释。为了了解这两组之间的关系，我们分析了小鼠FA-A组基因(FancA)在胚胎发育过程中的表达模式，并将其与C组基因的已知模式(FancA)进行了比较。对胚胎7天、11天、15天和17天的小鼠胚胎RNA的Northern分析显示，在所有阶段都有4.5kb的优势条带。通过原位杂交，在胡须毛囊、牙齿、脑、视网膜、肾脏、肝脏和四肢中发现了FancA转录本。FancA的表达也有阶段特异性的差异，特别是在发育中的胡须和大脑中。一些已知表达Fancc的组织(如肠道)未能表达FancA。这些观察表明：(1)FancA在几个组织中受到组织和阶段特异性调控；(2)FancA的表达模式与人类疾病的表型一致；(3)FancA的表达不一定与Fancc的表达耦合。FA基因的不同组织靶点的存在表明，临床表型的一些变异性可以归因于互补组的分配。(C)1999年由美国血液病学会主办。
About 80% of all cases of Fanconi anemia (FA) can be accounted for by complementation groups A and C. To understand the relationship between these groups, we analyzed the expression pattern of the mouse FA group-A gene (Fanca) during embryogenesis and compared it with the known pattern of the group-C gene (Fanca). Northern analysis of RNA from mouse embryos at embryonic days 7, 11, 15, and 17 showed a predominant 4.5 kb band in all stages. By in situ hybridization, Fanca transcripts were found in the whisker follicles, teeth, brain, retina, kidney, liver, and limbs. There was also stage-specific variation in Fanca expression, particularly within the developing whiskers and the brain. Some tissues known to express Fancc (eg, gut) failed to show Fanca expression. These observations show that (1) Fanca is under both tissue- and stage-specific regulation in several tissues; (2) the expression pattern of Fanca is consistent with the phenotype of the human disease; and (3) Fanca expression is not necessarily coupled to that of Fancc. The presence of distinct tissue targets for FA genes suggests that some of the variability in the clinical phenotype can be attributed to the complementation group assignment. (C) 1999 by The American Society of Hematology.