Bronson S K, Smithies O, Mascarello J T
Department of Pathology, University of North Carolina at Chapel Hill 27599-7525, USA.
Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3120-3. doi: 10.1073/pnas.92.8.3120.
Injecting male embryonic stem cells into the blastocoel of female embryos occasionally produces female chimeras capable of transmitting the embryonic stem cell genome. In our experiments several embryonic stem cell-derived male offspring from female chimeras were observed to be infertile. Karyotypic analysis of these infertile animals revealed aneuploidy. We examined the karyotypes of an additional 14 offspring not selected for infertility (3 females and 11 males) that had received the embryonic stem cell genome from 5 transmitting female chimeras. The 3 females and 5 of the males had normal karyotypes. Six of the males exhibited nonmosaic aneuploidy, which included four XXY karyotypes, one XYY karyotype, and an X,i(Y) karyotype. The high incidence of XXY and XYY males supports previous evidence for aberrant pairing and segregation of X and Y chromosomes when they are present in oocytes.
将雄性胚胎干细胞注入雌性胚胎的囊胚腔偶尔会产生能够传递胚胎干细胞基因组的雌性嵌合体。在我们的实验中，观察到来自雌性嵌合体的几只胚胎干细胞衍生的雄性后代不育。对这些不育动物的核型分析显示为非整倍体。我们检查了另外14只未因不育而被挑选的后代（3只雌性和11只雄性）的核型，这些后代从5只可传递的雌性嵌合体获得了胚胎干细胞基因组。3只雌性和5只雄性具有正常核型。6只雄性表现出非嵌合性非整倍体，其中包括4个XXY核型、1个XYY核型和1个X,i(Y)核型。XXY和XYY雄性的高发生率支持了先前关于X和Y染色体在卵母细胞中存在时配对和分离异常的证据。
