True polyploid meiosis in the human male

• Published in: Genetics and molecular biology Vol. 41; no. 2; pp. 410 - 413
• Main Authors: Pearson, Peter L, Madan, Kamlesh
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Sociedade Brasileira de Genetica 01.04.2018; Sociedade Brasileira de Genética
• Subjects: Apoptosis; Autotetraploid; BIOCHEMISTRY & MOLECULAR BIOLOGY; Cell fusion; Deoxyribonucleic acid; DNA; Frying; GENETICS & HEREDITY; human; Human and Medical Genetics; male; Meiosis; Polyploidy; Spermatocytes; Spermatogenesis; Spermatozoa; Vertebrates; Polyploidy; meiosis; human; male
• ISSN: 1415-4757; 1678-4685; 1678-4685
• DOI: 10.1590/1678-4685-gmb-2017-0219

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.