High incidence of XXY and XYY males among the offspring of female chimeras from embryonic stem cells.
High incidence of XXY and XYY males among the offspring of female chimeras from embryonic stem cells.
复制标题
胚胎干细胞雌性嵌合体的后代中 XXY 和 XYY 雄性的发病率很高。
DOI：
10.1073/pnas.92.8.3120
复制
发表时间：
1995
影响因子：
11.1
通讯作者：
Mascarello,JT
中科院分区：
文献类型：
--
作者：
Bronson,SK;Smithies,O;Mascarello,JT
将雄性胚胎干细胞注射到雌性胚胎的囊胚腔中，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，观察到几个胚胎干细胞衍生的雌性嵌合体的雄性后代是不育的。这些不育动物的核型分析显示非整倍体。我们检查了另外14个未选择不育的后代（3个女性和11个男性）的核型，这些后代接受了来自5个传递雌性嵌合体的胚胎干细胞基因组。3名女性和5名男性的核型正常。6只雄性动物表现出非嵌合非整倍体，包括4种XXY核型、1种XYY核型和1种X，i（Y）核型。XXY和XYY男性的高发生率支持了先前的证据，即当X和Y染色体存在于卵母细胞中时，X和Y染色体的异常配对和分离。
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.