Esposito G, Vitale A M, Leijten F P J, Strik A M, Koonen-Reemst A M C B, Yurttas P, Robben T J A A, Coonrod S, Gossen J A
Department of Target Discovery, NV Organon, 5340 BH Oss, The Netherlands.
Mol Cell Endocrinol. 2007 Jul 15;273(1-2):25-31. doi: 10.1016/j.mce.2007.05.005. Epub 2007 May 17.
Peptidylarginine deiminase 6 (PAD6) is an enzyme that is uniquely expressed in male and female germ cells. To study the function of this enzyme in vivo we generated mice deficient for PAD6. Here we show that inactivation of the PAD6 gene in mice leads to female infertility whereas male fertility is not affected. The absence of the PAD6 protein and consequently absence of citrullination activity in oocytes results in dispersal of the cytoskeletal sheets in oocytes, indicating an essential role of these germ cell-specific structures in zygote/embryo development. PAD6 deficient mice do not show any other overt phenotype. Thus, we identify citrullination as a new regulator of fertility.
肽基精氨酸脱亚氨酶6（PAD6）是一种仅在雄性和雌性生殖细胞中特异性表达的酶。为了研究该酶在体内的功能，我们构建了PAD6基因缺陷型小鼠。在此我们表明，小鼠中PAD6基因的失活导致雌性不育，而雄性生育力不受影响。卵母细胞中PAD6蛋白的缺失以及由此导致的瓜氨酸化活性的缺失，致使卵母细胞中细胞骨架片层分散，这表明这些生殖细胞特异性结构在合子/胚胎发育中具有重要作用。PAD6缺陷型小鼠未表现出任何其他明显的表型。因此，我们确定瓜氨酸化是生育力的一种新调节因子。
