Villeneuve A M
Department of Developmental Biology, Stanford University School of Medicine, California 94305.
Genetics. 1994 Mar;136(3):887-902. doi: 10.1093/genetics/136.3.887.
This study reports the characterization of a cis-acting locus on the Caenorhabditis elegans X chromosome that is crucial for promoting normal levels of crossing over specifically between the X homologs and for ensuring their proper disjunction at meiosis I. The function of this locus is disrupted by the mutation me8, which maps to the extreme left end of the X chromosome within the region previously implicated by studies of X; A translocations and X duplications to contain a meiotic pairing site. Hermaphrodites homozygous for a deletion of the locus (Df/Df) or heterozygous for a deletion and the me8 mutation (me8/Df) exhibit extremely high level of X chromosome nondisjunction at the reductional division; this is correlated with a sharp decrease in crossing over between the X homologs as evidenced both by reductions in genetic map distances and by the presence of achiasmate chromosomes in cytological preparations of oocyte nuclei. Duplications of the wild-type region that are unlinked to the X chromosome cannot complement the recombination and disjunction defects in trans, indicating that this region must be present in cis to the X chromosome to ensure normal levels of crossing over and proper homolog disjunction. me8 homozygotes exhibit an altered distribution of crossovers along the X chromosome that suggests a defect in processivity along the X chromosome of an event that initiates at the chromosome end. Models are discussed in which the cis-acting locus deleted by the Dfs functions as a meiotic pairing center that recruits trans-acting factors onto the chromosomes to nucleate assembly of a crossover-competent complex between the X homologs. This pairing center might function in the process of homolog recognition, or in the initiation of homologous synapsis.
本研究报告了秀丽隐杆线虫X染色体上一个顺式作用位点的特征,该位点对于促进X同源染色体之间正常水平的交叉互换以及确保它们在减数分裂I时正确分离至关重要。该位点的功能被突变体me8破坏,me8定位于X染色体的最左端,该区域先前在X;A易位和X重复研究中被认为包含一个减数分裂配对位点。该位点缺失的纯合雌雄同体(Df/Df)或缺失与me8突变的杂合子(me8/Df)在减数分裂时表现出极高水平的X染色体不分离;这与X同源染色体之间交叉互换的急剧减少相关,遗传图谱距离的减小以及卵母细胞核细胞学制片中无交叉染色体的存在均证明了这一点。与X染色体不连锁的野生型区域的重复不能在反式中互补重组和分离缺陷,这表明该区域必须与X染色体顺式存在,以确保正常水平的交叉互换和同源染色体的正确分离。me8纯合子在X染色体上的交叉互换分布发生改变,这表明在染色体末端起始的事件沿X染色体的进行性存在缺陷。文中讨论了一些模型,其中被Dfs缺失的顺式作用位点作为减数分裂配对中心,将反式作用因子募集到染色体上,以启动X同源染色体之间有交叉互换能力的复合体的组装。这个配对中心可能在同源染色体识别过程中起作用,或者在同源联会的起始过程中起作用。