Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
复制标题
DOI：
10.1093/hmg/9.4.515
复制
发表时间：
2000-03-01
影响因子：
3.5
通讯作者：
Sherman, SL
中科院分区：
文献类型：
--
作者：
Brown, AS;Feingold, E;Sherman, SL
改变重组模式沿着非分离的染色体是第一个分子相关确定的非分离在人类。为了更好地理解与这种关联相关的因素，我们已经询问了在具有二体染色体的卵子中重组改变的程度：模式仅限于未分离的染色体还是扩展到整个细胞？更具体地说，我们问是否有减少重组的总基因组的鸡蛋与非分离的21号染色体和没有检测到的重组。我们选择了这一亚类的非分离染色体，以丰富潜在的极端重组。我们发现，在这些具有非分离的21号染色体的卵子中，平均重组率在统计学上显著降低;没有特定的染色体驱动这种效应。最重要的是，我们发现这种减少与在卵子中观察到的重组的正常变化是一致的。因此，鉴于重组是一种多因子性状，这些数据表明，当全基因组重组事件的数量小于某个阈值时，特定染色体可能处于增加的不分离风险中。需要进一步的研究来证实这些结果，以确定调节重组的遗传和环境因素的重要性，并确定它们对不分离的影响。
Altered recombination patterns along non-disjoined chromosomes is the first molecular correlate identified for non-disjunction in humans. To understand better the factors related to this correlate, we have asked to what extent is recombination altered in an egg with a disomic chromosome: are patterns limited to the non-disjoined chromosome or do they extend to the entire cell? More specifically, we asked whether there is reduced recombination in the total genome of an egg with a non-disjoined chromosome 21 and no detectable recombination. We chose this subclass of non-disjoined chromosomes to enrich potentially for extremes in recombination. We found a statistically significant cell-wide reduction in the mean recombination rate in these eggs with non-disjoined chromosomes 21; no specific chromosomes were driving this effect. Most importantly, we found that this reduction was consistent with normal variation in recombination observed among eggs. Thus, given that recombination is a multifactorial trait, these data suggest that when the number of genome-wide recombination events is less than some threshold, specific chromosomes may be at an increased risk for non-disjunction. Further studies are required to confirm these results, to determine the importance of genetic and environmental factors that regulate recombination and to determine their impact on non-disjunction.