Barton K, Nucifora G
Cardinal Bernadin Cancer Center, Department of Medicine, Loyola University Medical Center, Maywood, IL 60153, USA.
Bioessays. 2000 Mar;22(3):214-8. doi: 10.1002/(SICI)1521-1878(200003)22:3<214::AID-BIES2>3.0.CO;2-I.
Hematopoiesis is the complex developmental process through which undifferentiated, pluripotent, hematopoietic stem cells come to generate mature, functional blood cells. This process is regulated in large part by specific transcription factors that control expression of genes necessary for the developmental sequence. Leukemias represent one form of disruption of this normal developmental process, and studies over the past few years have shown that many of the genes that underlay leukemogenesis are also essential for normal hematopoiesis. In an interesting recent example, Song et al.((1)) demonstrate that haploinsufficiency of the AML1 gene is the genetic basis of a form of familial thrombocytopenia which predisposes the affected individuals to the development of acute myeloid leukemia. Here we summarize Song's paper and current information describing the interesting dosage effects of this gene and other members of its gene family.
造血作用是一个复杂的发育过程，通过这个过程，未分化的、多能造血干细胞产生成熟的、有功能的血细胞。这个过程在很大程度上受特定转录因子的调控，这些转录因子控制着发育序列所需基因的表达。白血病是这种正常发育过程中断的一种形式，过去几年的研究表明，许多白血病发生的相关基因对正常造血作用也至关重要。最近一个有趣的例子是，宋等人（(1)）证明AML1基因单倍剂量不足是一种家族性血小板减少症的遗传基础，这种疾病使受影响个体易患急性髓系白血病。在这里，我们总结了宋等人的论文以及目前描述该基因及其基因家族其他成员有趣剂量效应的信息。
