The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations

Abstract

Sex vesicle-nucleolus association was observed in 12% of zygotene and pachytene human spermatocytes using Giemsa and NOR-silver stained preparations. The silver-positive area of the nucleolus, corresponding to the nucleolus organizer (NOR), was usually close to the XY pair. C-banding frequently showed the terminal chromomere, formed by the condensed short arm of an acrocentric bivalent, attached to the sex vesicle. When a nucleolus produced by transcription of rDNA was connected to the short arm, it seemed to be secondarily associated with the sex vesicle. Non-transcribed ribosomal genes, which did not form a nucleolus, were revealed by in situ hybridization. Autoradiographs showed the rDNA-containing short arm of acrocentric bivalents associated with the sex vesicle in 18% of spermatocytes. The difference with the frequency of nucleolus-XY pair association was partially explained by the presence of inactive ribosomal genes. Moreover, electron microscopy showed that the dimensions of the newly formed nucleoli at early zygotene did not exceed 0.5 micron; they can be missed in light microscope investigations. From early zygotene to late pachytene, close relationships were observed between the sex vesicle chromatin and that of the associated acrocentric bivalent, especially in the short arm region. These relationships might explain the frequent involvement of acrocentrics in Y-autosome and X-autosome translocations occurring during male meiosis.