Pearson Peter L, Madan Kamlesh
Center for Human Genome and Stem Cell Research, Departmento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.
Cytogenetics Laboratory, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Genet Mol Biol. 2018;41(2):410-413. doi: 10.1590/1678-4685-GMB-2017-0219. Epub 2018 May 21.
Polyploidy does not usually occur in germinal cells of mammals and other higher vertebrates. We describe a unique example of mosaic autotetraploidy in the meiosis of a human male. Although the original observations were made in the late 1960s, we did not publish them at that time, because we expected to detect further examples that could be described together. However, this did not occur and we have now decided to make the observations available to demonstrate that polyploidy in mammalian male meiosis can arise at a higher frequency than expected by random polyploidization of individual meiotic cells, by either DNA duplication or cell fusion prior to synapsis. This is the first description of a population of primary spermatocytes exhibiting multivalent formation at leptotene /diakinesis in human spermatogenesis, with ring, chain, frying pan and other types of quadrivalents, typical of autotetraploidy. As many of the polyploid configurations showed apoptotic breakdown, it is likely that diploid and/or aneuploid spermatozoa would have rarely or never resulted from this mosaic autotetraploid meiosis.
多倍体通常不会出现在哺乳动物和其他高等脊椎动物的生殖细胞中。我们描述了一名人类男性减数分裂过程中嵌合自四倍体的一个独特例子。尽管最初的观察是在20世纪60年代末进行的,但我们当时并未发表,因为我们期望能检测到更多可一起描述的例子。然而,这种情况并未发生,我们现在决定公布这些观察结果,以证明哺乳动物雄性减数分裂中的多倍体出现频率可能高于单个减数分裂细胞通过DNA复制或在联会之前细胞融合进行随机多倍化所预期的频率。这是首次描述在人类精子发生过程中,初级精母细胞群体在细线期/终变期出现多价体形成,伴有环状、链状、煎锅状和其他类型的四价体,这是自四倍体的典型特征。由于许多多倍体构型显示出凋亡解体,这种嵌合自四倍体减数分裂产生二倍体和/或非整倍体精子的可能性可能很小或几乎不存在。