Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands.
Institute Biology Leiden, Leiden University, 2333 BE Leiden, The Netherlands.
Dis Model Mech. 2023 Feb 1;16(2). doi: 10.1242/dmm.049715. Epub 2023 Jan 30.
PTPN6 encodes SHP1, a protein tyrosine phosphatase with an essential role in immune cell function. SHP1 mutations are associated with neutrophilic dermatoses and emphysema in humans, which resembles the phenotype seen in motheaten mice that lack functional SHP1. To investigate the function of Shp1 in developing zebrafish embryos, we generated a ptpn6 knockout zebrafish line lacking functional Shp1. Shp1 knockout caused severe inflammation and lethality around 17 days post fertilization (dpf). During early development, the myeloid lineage was affected, resulting in a decrease in the number of neutrophils and a concomitant increase in the number of macrophages. The number of emerging hematopoietic stem and progenitor cells (HSPCs) was decreased, but due to hyperproliferation, the number of HSPCs was higher in ptpn6 mutants than in siblings at 5 dpf. Finally, the directional migration of neutrophils and macrophages was decreased in response to wounding, and fewer macrophages were recruited to the wound site. Yet, regeneration of the caudal fin fold was normal. We conclude that loss of Shp1 impaired neutrophil and macrophage function, and caused severe inflammation and lethality at the larval stage.
PTPN6 编码 SHP1,一种在免疫细胞功能中起关键作用的蛋白酪氨酸磷酸酶。SHP1 突变与人类中性粒细胞性皮肤病和肺气肿有关,这类似于缺乏功能性 SHP1 的糙皮病小鼠的表型。为了研究 Shp1 在发育中的斑马鱼胚胎中的功能,我们生成了一种缺乏功能性 Shp1 的 ptpn6 敲除斑马鱼系。Shp1 敲除导致受精后约 17 天(dpf)严重炎症和致死。在早期发育过程中,髓系受到影响,导致中性粒细胞数量减少,巨噬细胞数量增加。出现的造血干细胞和祖细胞(HSPC)数量减少,但由于过度增殖,与兄弟姐妹相比,ptpn6 突变体在 5 dpf 时 HSPC 数量更高。最后,中性粒细胞和巨噬细胞的定向迁移对创伤的反应减弱,并且较少的巨噬细胞被募集到创伤部位。然而,尾鳍褶皱的再生是正常的。我们得出结论,Shp1 的缺失损害了中性粒细胞和巨噬细胞的功能,并在幼虫阶段引起严重的炎症和致死。