Whitten W K, Carter S C, Beamer W G
Jackson Laboratory, Bar Harbor, Maine 04609.
Reprod Fertil Dev. 1991;3(3):255-65. doi: 10.1071/rd9910255.
When females of 21 strains and hybrids were mated to BALB/cBm males to determine the role of the maternal genome in the sex reversing non-disjunction of the Y chromosome, (1) BALB/cBm and BALB/cBy and SJL/J females produced 39.5-41.5% males and 2.4-2.8% hermaphrodites; (2) SWR/J, A/HeJ, DBA/2J and C3HeB/FeJ produced 44.8-49.1% males and 0.2-0.7% hermaphrodites; (3) C3H/HeJ and three strains of C57BL produced normal sex ratios and no hermaphrodites; (4) four F1 hybrids produced 44.5-49.2% males and 0.3-1.9% hermaphrodites; (5) the seven CXB RI strains produced perplexing sets of data: 26.5%-52.0% males and 0.2-3.2% hermaphrodites. These results indicate that a partly dominant gene favouring non-disjunction occurs in the female genomes of BALB/c and SJL/J strains, an enhancing gene occurs in C57BL/6By and there may be others. Heterosis appears to favour normal mitosis. CXBH females produced 26.5% males and 3.2% hermaphrodites, indicating that non-disjunction may have occurred in every male zygote, thus providing models for the generation of Turner's syndrome, hermaphroditism and a predictable non-disjunction. Reciprocal crosses were made between SJL/J and BALB/cBm, followed by 20 backcrosses to the maternal strains, to exchange the Ys and produce two new consomic strains. Males from SJL-BALB/cBm-Y strain, when mated to CXBH females, sired 34.3% males and 4.3% hermaphrodites, whereas BALB/cBm-SJL-Y sired no hermaphrodites and the sex ratio of the offspring was normal. This shows that the non-disjunction involves only the BALB/cBm Y chromosome and is completely independent of genes on the X or autosomal chromosomes. These results indicate that the BALB/cBm Y chromosome is unable to interact normally with the mitotic spindles of some genotypes, particularly CXBH, BALB/c and SJL. The simplest hypothesis is that a primary non-disjunction occurs at first cleavage. This can produce an array of mosaics determined by chance in the many sampling events that take place during development and by the relative vigour and stability of the two original clones.
为确定母本基因组在Y染色体性反转不分离现象中的作用,将21个品系和杂种的雌性个体与BALB/cBm雄性个体进行交配,结果如下:(1) BALB/cBm、BALB/cBy和SJL/J雌性个体产生了39.5% - 41.5%的雄性个体和2.4% - 2.8%的雌雄同体个体;(2) SWR/J、A/HeJ、DBA/2J和C3HeB/FeJ产生了44.8% - 49.1%的雄性个体和0.2% - 0.7%的雌雄同体个体;(3) C3H/HeJ和三个C57BL品系产生了正常的性别比例,且无雌雄同体个体;(4) 四个F1杂种产生了44.5% - 49.2%的雄性个体和0.3% - 1.9%的雌雄同体个体;(5) 七个CXB RI品系产生了复杂的数据组:26.5% - 52.0%的雄性个体和0.2% - 3.2%的雌雄同体个体。这些结果表明,BALB/c和SJL/J品系的雌性基因组中存在一个部分显性的有利于不分离的基因,C57BL/6By中存在一个增强基因,可能还存在其他基因。杂种优势似乎有利于正常有丝分裂。CXBH雌性个体产生了26.5%的雄性个体和3.2%的雌雄同体个体,这表明每个雄性合子中可能都发生了不分离现象,从而为特纳综合征、雌雄同体现象以及可预测的不分离现象的产生提供了模型。在SJL/J和BALB/cBm之间进行了正反交,然后回交母本品系20次,以交换Y染色体并产生两个新的同源导入系。来自SJL - BALB/cBm - Y品系的雄性个体与CXBH雌性个体交配,产生了34.3%的雄性个体和4.3%的雌雄同体个体,而BALB/cBm - SJL - Y则未产生雌雄同体个体,后代的性别比例正常。这表明不分离现象仅涉及BALB/cBm Y染色体,且与X染色体或常染色体上的基因完全无关。这些结果表明,BALB/cBm Y染色体无法与某些基因型(特别是CXBH、BALB/c和SJL)的有丝分裂纺锤体正常相互作用。最简单的假设是,第一次卵裂时发生了初级不分离。这会产生一系列镶嵌体,其由发育过程中发生的许多抽样事件中的偶然性以及两个原始克隆的相对活力和稳定性所决定。