Ruggiu M, Speed R, Taggart M, McKay S J, Kilanowski F, Saunders P, Dorin J, Cooke H J
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Nature. 1997 Sep 4;389(6646):73-7. doi: 10.1038/37987.
RBM and DAZ/SPGY are two families of genes located on the Y chromosome that encode proteins containing RNA-binding motifs, and both have been described as candidate human spermatogenesis genes. Transmission of deletions from father to son has been observed in the case of DAZ, but neither gene family has been shown to be essential for spermatogenesis in human males. The DAZ/SPGY genes are particularly amenable to a knockout approach, as they are found on the Y chromosome in Old World primates and apes, but in other mammals, they are represented only by an autosomal gene, DAZLA, which is also present in Old World primates and apes. It has also been shown that a Dazla homologue is essential for spermatogenesis in Drosophila. Here we show that Dazla protein is cytoplasmic in male and female germ cells, unlike the nuclear RBM protein. Disruption of the Dazla gene leads to loss of germ cells and complete absence of gamete production, demonstrating that Dazla is essential for the differentiation of germ cells.
RBM和DAZ/SPGY是位于Y染色体上的两个基因家族,它们编码含有RNA结合基序的蛋白质,并且都被描述为人类精子发生的候选基因。在DAZ的情况下,已观察到缺失从父亲传给儿子,但这两个基因家族均未被证明对人类男性的精子发生至关重要。DAZ/SPGY基因特别适合采用敲除方法,因为它们在旧世界灵长类动物和猿类的Y染色体上被发现,但在其他哺乳动物中,它们仅由一个常染色体基因DAZLA代表,DAZLA在旧世界灵长类动物和猿类中也存在。研究还表明,Dazla同源物对果蝇的精子发生至关重要。在这里我们表明,与核RBM蛋白不同,Dazla蛋白在雄性和雌性生殖细胞中位于细胞质中。Dazla基因的破坏导致生殖细胞丢失和配子产生完全缺失,这表明Dazla对生殖细胞的分化至关重要。