Hardy R W, Tokuyasu K T, Lindsley D L
Chromosoma. 1981;83(5):593-617. doi: 10.1007/BF00328522.
The effects of spermatogenesis of a series of continguous non-overlapping Y-chromosome deficiencies were examined using both the light and electron microscope. The deficiencies were constructed by combining elements of different X-Y translocations; they subdivide the Y into seven segments, six of which are required for male fertility (four in the long arm and two in the short arm). Spermatogenesis was examined from the primary spermatocyte through to the formation of mature sperm and the earliest departures from normal development identified. Two deficiencies result in the absence of the same structure from the axoneme of the sperm tail--the dynein-containing outer arm extending from the A subtubule of the peripheral doublet; they also result in the absence from primary spermatocyte nuclei of aggregates of tubuli in one case and reticular material in the other. A third deficiency causes the appearance in the primary spermatocyte of the crystals characteristic of X0 males and the irregular distribution during meiosis of nuclear and cytoplasmic elements to the spermatids. The fourth deficiency results in the misalignment of the developing axoneme with the mitochondrial derivatives and is first detectable in the onion nebenkern stage of the spermatid. Finally for two deficiencies the first abnormalities detected were during later stages and comprise a syndrome found in most of the steriles. We attribute this phenotype to the indirect effects of earlier lesions.
利用光学显微镜和电子显微镜，研究了一系列连续且不重叠的Y染色体缺失对精子发生的影响。这些缺失是通过组合不同X-Y易位的元件构建而成的；它们将Y染色体细分为七个区段，其中六个区段是雄性生育所必需的（长臂中有四个，短臂中有两个）。从初级精母细胞开始，直至成熟精子形成，对精子发生过程进行了研究，并确定了最早出现的与正常发育的偏离情况。两种缺失导致精子尾部轴丝中相同结构的缺失——从外周双联体A微管延伸出的含动力蛋白的外臂；在一种情况下，它们还导致初级精母细胞核中缺少微管聚集体，在另一种情况下则缺少网状物质。第三种缺失导致初级精母细胞中出现X0雄性特有的晶体，以及减数分裂期间细胞核和细胞质成分向精子细胞的不规则分布。第四种缺失导致发育中的轴丝与线粒体衍生物排列不齐，最早在精子细胞的洋葱状 nebenkern 阶段可检测到。最后，对于两种缺失，最早检测到的异常发生在后期阶段，包括大多数不育个体中发现的一种综合征。我们将这种表型归因于早期损伤的间接影响。
