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Lmo4基因的无效突变或Lmo1/Lmo3基因的联合无效突变会导致围产期致死,并且Lmo4控制小鼠的神经管发育。

Null mutation of the Lmo4 gene or a combined null mutation of the Lmo1/Lmo3 genes causes perinatal lethality, and Lmo4 controls neural tube development in mice.

作者信息

Tse E, Smith A J H, Hunt S, Lavenir I, Forster A, Warren A J, Grutz G, Foroni L, Carlton M B L, Colledge W H, Boehm T, Rabbitts T H

机构信息

MRC Laboratory of Molecular Biology, Cambridge CB2 2QH, United Kingdom.

出版信息

Mol Cell Biol. 2004 Mar;24(5):2063-73. doi: 10.1128/MCB.24.5.2063-2073.2004.

Abstract

The LIM-only family of proteins comprises four members; two of these (LMO1 and LMO2) are involved in human T-cell leukemia via chromosomal translocations, and LMO2 is a master regulator of hematopoiesis. We have carried out gene targeting of the other members of the LIM-only family, viz., genes Lmo1, Lmo3 and Lmo4, to investigate their role in mouse development. None of these genes has an obligatory role in lymphopoiesis. In addition, while null mutations of Lmo1 or Lmo3 have no discernible phenotype, null mutation of Lmo4 alone causes perinatal lethality due to a severe neural tube defect which occurs in the form of anencephaly or exencephaly. Since the Lmo1 and Lmo3 gene sequences are highly related and have partly overlapping expression domains, we assessed the effect of compound Lmo1/Lmo3 null mutations. Although no anatomical defects were apparent in compound null pups, these animals also die within 24 h of birth, suggesting that a compensation between the related Lmo1 and 3 proteins can occur during embryogenesis to negate the individual loss of these genes. Our results complete the gene targeting of the LIM-only family in mice and suggest that all four members of this family are important in regulators of distinct developmental pathways.

摘要

仅含LIM结构域的蛋白质家族由四个成员组成;其中两个(LMO1和LMO2)通过染色体易位参与人类T细胞白血病,并且LMO2是造血作用的主要调节因子。我们对仅含LIM结构域的家族其他成员,即Lmo1、Lmo3和Lmo4基因进行了基因打靶,以研究它们在小鼠发育中的作用。这些基因在淋巴细胞生成过程中均无必需作用。此外,虽然Lmo1或Lmo3的无效突变没有可识别的表型,但单独的Lmo4无效突变会导致围产期致死,这是由于严重的神经管缺陷以无脑畸形或露脑畸形的形式出现。由于Lmo1和Lmo3基因序列高度相关且表达域部分重叠,我们评估了复合Lmo1/Lmo3无效突变的影响。虽然在复合无效幼崽中没有明显的解剖学缺陷,但这些动物也在出生后24小时内死亡,这表明在胚胎发生过程中相关的Lmo1和3蛋白之间可能发生补偿作用,以抵消这些基因的个体缺失。我们的结果完成了小鼠中仅含LIM结构域家族的基因打靶,并表明该家族的所有四个成员在不同发育途径的调节中都很重要。

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