stella is a maternal effect gene required for normal early development in mice
stella is a maternal effect gene required for normal early development in mice
复制标题
DOI：
10.1016/j.cub.2003.11.026
复制
发表时间：
2003-12-02
期刊：
影响因子：
9.2
通讯作者：
Surani, MA
中科院分区：
文献类型：
--
作者：
Payer, B;Saitou, M;Surani, MA
Stella是一种在原始生殖细胞、卵母细胞、着床前胚胎和多能细胞中特异性表达的新基因[1,2]。它编码一种具有sap样结构域[3]和剪接因子基序样结构的蛋白，提示可能在染色体组织或RNA加工中起作用。在这里，我们研究了stella在小鼠中的靶向突变的影响。我们发现，虽然杂合动物之间的交配会产生明显正常的stella null后代，但由于卵母细胞中缺乏母体遗传的stella-蛋白，stella缺陷雌性的生育能力严重降低。事实上，我们证明没有Stella的胚胎在着床前发育受到损害，很少达到囊胚期。因此，Stella是少数已知的哺乳动物母性效应基因之一[4-9]，因为对胚胎发育的表型影响主要是母性Stella突变基因型的结果。此外，我们发现在人卵母细胞[10]中表达的STELLA也在人多能细胞和生殖细胞肿瘤中表达。有趣的是，携带STELLA的人类12p染色体在这些肿瘤中一直被过度表达。这些发现表明，STELLA在人类早期发育过程中的作用与小鼠相似，并可能参与生殖细胞肿瘤。
stella is a novel gene specifically expressed in primordial germ cells, oocytes, preimplantation embryos, and pluripotent cells [1, 2]. It encodes a protein with a SAP-like domain [3] and a splicing factor motif-like structure, suggesting possible roles in chromosomal organization or RNA processing. Here, we have investigated the effects of a targeted mutation of stella in mice. We show that while matings between heterozygous animals resulted in the birth of apparently normal stella null offspring, stella-deficient females displayed severely reduced fertility due to a lack of maternally inherited Stella-protein in their oocytes. Indeed, we demonstrate that embryos without Stella are compromised in preimplantation development and rarely reach the blastocyst stage. stella is thus one of few known mammalian maternal effect genes [4-9], as the phenotypic effect on embryonic development is mainly a consequence of the maternal stella mutant genotype. Furthermore, we show that STELLA that is expressed in human oocytes [10] is also expressed in human pluripotent cells and in germ cell tumors. Interestingly, human chromosome 12p, which harbours STELLA, is consistently overrepresented in these tumors [11]. These findings suggest a similar role for STELLA during early human development as in mice and a potential involvement in germ cell tumors.