Gata1s mutant mice display persistent defects in the erythroid lineage.
Gata1s mutant mice display persistent defects in the erythroid lineage.
复制标题
GATA1S突变小鼠在红细胞谱系中显示持续的缺陷。
DOI：
10.1182/bloodadvances.2022008124
复制
发表时间：
2023-07-11
期刊：
影响因子：
7.5
通讯作者：
Crispino, John D.
中科院分区：
文献类型：
--
作者：
Ling, Te;Zhang, Kevin;Yang, Jiayue;Gurbuxani, Sandeep;Crispino, John D.
具有GATA1截断突变的小鼠有终身贫血，部分原因是由于红细胞祖细胞群的改变。由于未知的病因，Gata1s突变小鼠红细胞寿命缩短。导致n端83个氨基酸缺失的GATA1突变是唐氏综合征儿童髓性白血病、罕见的家族性促红细胞生成性贫血和部分Diamond-Blackfan贫血的一个特征。Gata1s小鼠模型仅表达始于蛋氨酸84的短GATA1亚型，已被证明在妊娠期间造血功能存在缺陷，特别是红细胞功能受损，同时巨核功能扩大。然而，据报道，这些小鼠没有表现出任何产后表型。在这里，我们证明了Gata1s突变小鼠在一生中表现出大细胞性贫血和异常巨核生成的特征，最终导致脾肿大和骨髓纤维化。这些数据支持使用这种动物模型来研究GATA1缺陷。
Mice with a truncating mutation in GATA1 have lifelong anemia that is, in part, due to altered erythroid progenitor populations. Gata1s mutant mouse erythrocytes have a reduced lifespan due to an unknown etiology. GATA1 mutations that result in loss of the N-terminal 83 amino acids are a feature of myeloid leukemia in children with Down syndrome, rare familial cases of dyserythropoietic anemia, and a subset of cases of Diamond-Blackfan anemia. The Gata1s mouse model, which expresses only the short GATA1 isoform that begins at methionine 84, has been shown to have a defect in hematopoiesis, especially impaired erythropoiesis with expanded megakaryopoiesis, during gestation. However, these mice reportedly did not show any postnatal phenotype. Here, we demonstrate that Gata1s mutant mice display macrocytic anemia and features of aberrant megakaryopoiesis throughout life, culminating in profound splenomegaly and bone marrow fibrosis. These data support the use of this animal model for studies of GATA1 deficiencies.
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影响因子：
20.3
作者：
Hasle, Henrik;Kline, Ronald M.;Cantor, Alan B.
通讯作者：
Cantor, Alan B.
影响因子：
4.6
作者：
Ling, Te;Crispino, John D.
通讯作者：
Crispino, John D.
DOI：
10.1182/asheducation-2005.1.19
发表时间：
2005-01-01
期刊：
Hematology. American Society of Hematology. Education Program
影响因子：
--
作者：
Prchal, Josef T;Gregg, Xylina T
通讯作者：
Gregg, Xylina T
影响因子：
64.5
作者：
Khajuria RK;Munschauer M;Ulirsch JC;Fiorini C;Ludwig LS;McFarland SK;Abdulhay NJ;Specht H;Keshishian H;Mani DR;Jovanovic M;Ellis SR;Fulco CP;Engreitz JM;Schütz S;Lian J;Gripp KW;Weinberg OK;Pinkus GS;Gehrke L;Regev A;Lander ES;Gazda HT;Lee WY;Panse VG;Carr SA;Sankaran VG
通讯作者：
Sankaran VG
影响因子：
20.3
作者：
Ludwig，Leif S.;Lareau，Caleb A.;Sankaran，Vijay G.
通讯作者：
Sankaran，Vijay G.