Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia
Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia
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DOI：
10.1016/s1074-7613(00)00017-0
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发表时间：
2000-08-01
期刊：
影响因子：
32.4
通讯作者：
Bernstein, A
中科院分区：
文献类型：
--
作者：
Hart, A;Melet, F;Bernstein, A
ETS基因Fli-1参与Friend鼠白血病病毒诱导小鼠红白血病和儿童尤文氏肉瘤。在Fli-1基因座中具有靶向无效突变的小鼠在胚胎发生的第11.5天死亡，血管完整性丧失，导致脑膜血管丛内出血和血管生成素-1受体Tek/Tie-2的特异性下调。我们还发现，Fli-1无效胚胎中的dysmegakaroepiesis类似于11 q末端缺失（Jacobsen或Paris-Trousseau综合征）患者中常见的异常。我们将14例Jacobsen患者的巨核细胞缺陷映射到11 q上的一个最小区域，该区域包括Fli-1基因，并表明这些患者中的dymegakaryogenesis可能是由Fli-1的半合子丢失引起的。
The ETS gene Fli-1 is involved in the induction of erythroleukemia in mice by Friend murine leukemia virus and Ewings sarcoma in children. Mice with a targeted null mutation in the Fli-1 locus die at day 11.5 of embryogenesis with loss of vascular integrity leading to bleeding within the vascular plexus of the cerebral meninges and specific downregulation of Tek/Tie-2, the receptor for angiopoietin-1. We also show that dysmegakaryopoiesis in Fli-1 null embryos resembles that frequently seen in patients with terminal deletions of 11q (Jacobsen or Paris-Trousseau Syndrome). We map the megakaryocytic defects in 14 Jacobsen patients to a minimal region on 11q that includes the Fli-1 gene and suggest that dysmegakaryopoiesis in these patients may be caused by hemizygous loss of Fli-1.