南澳大利亚大学Natasha L. Harvey2015年8月9日发表的《The JouRNAl of Clinical Investigation》上发表淋巴管瓣膜发育新研究文章，研究表明了淋巴管瓣膜发育和维护需要GATA2的存在，在，Jan Kazenwadel， Kelly L. Betterman等人发文，称GATA2对于淋巴发育和淋巴水肿等有着重要作用。

近期，锌指转录因子GATA2的杂合子胚系突变被证明是一系列临床表型的基础，包括Emberger综合症——一个带有淋巴水肿和骨髓增生异常综合症和急性髓系白血病特征的疾病。尽管GATA2在造血功能中发挥的作用已经明确，但它在淋巴管的作用和在其突变所造成淋巴水肿中的功能尚未有表征。

       在该文中，研究者们为带有GATA2突变种系的淋巴水肿患者提供了分子解释。特别值得注意的是，研究者们演示了与Emberger相关的GATA2错义突变会导致GATA2调节基因转录的功能完全丧失，这对于淋巴管瓣膜发育至关重要。他们确定了一个假定的增强元件——处于关键淋巴转录调节因子PROX1(收GATA2约束)和转录因子Foxc2、NFATC1。Emberger GATA2错义突变使其绑定这个元素的能力大大地下降。在小鼠中选择性敲除Gata2基因，结果透露GATA2是淋巴静脉和淋巴瓣膜发育和维持的必要因子。

综上所述，他们的数据说明了GATA2在淋巴管中的重要作用，并阐述了人类GATA2突变会造成淋巴水肿的原因。

原文链接：

GATA2 is required for lymphatic vessel valve development and maintenance

原文摘要：

Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). Despite well-defined roles in hematopoiesis, the functions of GATA2 in the lymphatic vasculature and the mechanisms by which GATA2 mutations result in lymphedema have not been characterized. Here, we have provided a molecular explanation for lymphedema predisposition in a subset of patients with germline GATA2 mutations. Specifically, we demonstrated that Emberger-associated GATA2 missense mutations result in complete loss of GATA2 function, with respect to the capacity to regulate the transcription of genes that are important for lymphatic vessel valve development. We identified a putative enhancer element upstream of the key lymphatic transcriptional regulator PROX1 that is bound by GATA2, and the transcription factors FOXC2 and NFATC1. Emberger GATA2 missense mutants had a profoundly reduced capacity to bind this element. Conditional Gata2 deletion in mice revealed that GATA2 is required for both development and maintenance of lymphovenous and lymphatic vessel valves. Together, our data unveil essential roles for GATA2 in the lymphatic vasculature and explain why a select catalogue of human GATA2 mutations results in lymphedema.