Ashley T
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Hum Genet. 1994 Dec;94(6):587-93. doi: 10.1007/BF00206950.
Recombination nodules (RNs) are small electron-dense structures associated with the synaptonemal complex. Two types have been identified: early RNs present during zygonema-early pachynema, which are thought to be involved in gene conversion and synaptic initiation, and late RNs present during mid-to-late pachynema, which are thought to be involved in reciprocal recombination leading to chiasma formation. In organisms as diverse as Sodaria, Drosophila, and plants there is indeed a close correlation between the observed number of late RNs and crossovers, or their cytogenetic manifestation, chiasmata. However, as this reexamination of the human data shows, there is not a similar correlation in mammals. Instead, there is a severe deficiency in RNs in eutherian males and marsupial females near chromosome ends and other recombinational "hot spots" (defined genetically), or "localized chiasmata" (defined cytogenetically). Many of these sites of hyper-recombination correspond to sites of telomere or telomere-associated sequences. Together these observations suggest the possibility of a second, mechanistically different, recombination pathway that does not involve RNs, but may directly involve telomere or telomere-associated sequences. This pathway may be responsible for sex-specific hot-spots of recombination observed at highly localized sites throughout the genome.
重组节(RNs)是与联会复合体相关的小电子致密结构。已鉴定出两种类型:在偶线期至早粗线期出现的早期重组节,被认为参与基因转换和突触起始;在中粗线期至晚粗线期出现的晚期重组节,被认为参与导致交叉形成的相互重组。在诸如粪壳菌、果蝇和植物等多种生物中,观察到的晚期重组节数量与交叉或其细胞遗传学表现交叉之间确实存在密切相关性。然而,正如对人类数据的重新审视所显示的那样,在哺乳动物中不存在类似的相关性。相反,在真兽亚纲雄性和有袋类雌性动物中,靠近染色体末端和其他重组“热点”(遗传学定义)或“局部交叉”(细胞遗传学定义)的区域,重组节严重缺乏。许多这些高重组位点对应于端粒或端粒相关序列的位点。这些观察结果共同表明,可能存在第二种机制不同的重组途径,该途径不涉及重组节,但可能直接涉及端粒或端粒相关序列。这条途径可能是整个基因组中高度局部化位点观察到的性别特异性重组热点的原因。