Krysiak Kilannin, Tibbitts Justin F, Shao Jin, Liu Tuoen, Ndonwi Matthew, Walter Matthew J
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA; Division of Oncology, Washington University School of Medicine, St. Louis, MO, USA.
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA; Division of Oncology, Washington University School of Medicine, St. Louis, MO, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA.
Exp Hematol. 2015 Apr;43(4):319-30.e10. doi: 10.1016/j.exphem.2014.12.005. Epub 2014 Dec 27.
HSPA9 is located on chromosome 5q31.2 in humans, a region that is commonly deleted in patients with myeloid malignancies [del(5q)], including myelodysplastic syndrome (MDS). HSPA9 expression is reduced by 50% in patients with del(5q)-associated MDS, consistent with haploinsufficient levels. Zebrafish mutants and knockdown studies in human and mouse cells have implicated a role for HSPA9 in hematopoiesis. To comprehensively evaluate the effects of Hspa9 haploinsufficiency on hematopoiesis, we generated an Hspa9 knockout mouse model. Although homozygous knockout of Hspa9 is embryonically lethal, mice with heterozygous deletion of Hspa9 (Hspa9(+/-)) are viable and have a 50% reduction in Hspa9 expression. Hspa9(+/-) mice have normal basal hematopoiesis and do not develop MDS. However, Hspa9(+/-) mice have a cell-intrinsic reduction in bone marrow colony-forming unit-PreB colony formation without alterations in the number of B-cell progenitors in vivo, consistent with a functional defect in Hspa9(+/-) B-cell progenitors. We further reduced Hspa9 expression (<50%) using RNA interference and observed reduced B-cell progenitors in vivo, indicating that appropriate levels (≥50%) of Hspa9 are required for normal B lymphopoiesis in vivo. Knockdown of Hspa9 in an interleukin 7 (IL-7)-dependent mouse B-cell line reduced signal transducer and activator of transcription 5 (Stat5) phosphorylation following IL-7 receptor stimulation, supporting a role for Hspa9 in Stat5 signaling in B cells. Collectively, these data imply a role for Hspa9 in B lymphopoiesis and Stat5 activation downstream of IL-7 signaling.
HSPA9位于人类5号染色体的5q31.2区域,该区域在包括骨髓增生异常综合征(MDS)在内的髓系恶性肿瘤患者[del(5q)]中常发生缺失。在与del(5q)相关的MDS患者中,HSPA9表达降低了50%,这与单倍体不足水平一致。斑马鱼突变体以及在人和小鼠细胞中的敲低研究表明HSPA9在造血过程中发挥作用。为了全面评估Hspa9单倍体不足对造血的影响,我们构建了一个Hspa9基因敲除小鼠模型。尽管Hspa9的纯合敲除在胚胎期是致死的,但Hspa9杂合缺失的小鼠(Hspa9(+/-))是存活的,且Hspa9表达降低了50%。Hspa9(+/-)小鼠具有正常的基础造血功能,不会发展为MDS。然而,Hspa9(+/-)小鼠的骨髓集落形成单位 - 前B细胞集落形成存在细胞内在性减少,而体内B细胞祖细胞数量没有改变,这与Hspa9(+/-) B细胞祖细胞的功能缺陷一致。我们使用RNA干扰进一步降低了Hspa9的表达(<50%),并观察到体内B细胞祖细胞减少,这表明体内正常的B淋巴细胞生成需要适当水平(≥50%)的Hspa9。在白细胞介素7(IL - 7)依赖的小鼠B细胞系中敲低Hspa9会降低IL - 7受体刺激后信号转导和转录激活因子5(Stat5)的磷酸化,这支持了Hspa9在B细胞中Stat5信号传导中的作用。总的来说,这些数据表明Hspa9在B淋巴细胞生成以及IL - 7信号下游的Stat5激活中发挥作用。