Pachytene chromosomes in trisomy 19 male mice with Robertsonian translocations

Abstract

Three male mice with trisomy 19 induced by a Robertsonian translocation system were used for the study of meiotic prophase cells and germ cell differentiation. Present in these males were two Robertsonian chromosomes each with a chromosome 19 arm in common, two acrocentric chromosomes corresponding to the second arms of the two Rbs and one acrocentric chromosome 19. These five chromosomes showed a wide range of meiotic pairing configurations. One particular observation was the formation of a true double synaptonemal complex (SC) with three lateral axes and two central elements, which joined the three chromosomes 19 together. Integration of the acrocentric chromosome 19 in a complex pentavalent configuration was seen in 45% of the pachytene nuclei. The proportion of spermatocytes showing association between a quadrivalent and the acrocentric no. 19 was 26%. In 29% of the nuclei, the acrocentric no. 19 was free, integrated or associated with the XY complex, paired with the X chromosome or associated with a bivalent. Finally, in 57% of pachytene cells, the meiotic multivalents or the free univalent 19 were associated with the proximal part of the X chromosome or integrated in the sex chromatin. Therefore, the question arises with regard to the fate of these spermatocytes. The testicular histology shows an arrest of germ cell development at the spermatocyte stage. Several mechanisms seem to be the cause of germ cell depletion in a sequence of different, impaired developmental processes.