The synaptonemal complexes of Caenorhabditis elegans: duplication mutants sDp1 and mnDp1, disjunction regulator regions and aneuploidy

Abstract

AbstractThe duplication mutants sDp1 and mnDp1 in Caenorhabditis elegans differ in their size and recombination/pairing strategies within the pachytene nucleus. mnDp1 is a duplication of approximately 18% of the X chromosome with the duplicated segment transposed and inserted into linkage group V. sDp1 is a free duplication which covers 30 map units of linkage group I and crossing-over has been determined genetically with its homologue. Analysis of the synaptonemal complexes (SC) and pachytene karyotypes of both duplication mutants reveal that there is an extension of one of the SCs in mnDp1 while the sDp1 free duplication partially pairs with its homologue along a small portion of its length. The remaining region exists as a univalent in the pachytene nucleus. This indicates that there is at least one SC initiation site on the sDp1 free duplication. Only bivalent pairing is permitted and there are no trivalents. To some extent, the autosomes preferentially pair at the exclusion of the sDp1 duplication. Switching of pairing partners was evident between the duplication and the homologue, probably because of the size of the duplication. Thus, the mechanism of chromosome segregation in the two duplications is different. The number of Disjunction Regulator Regions, which are associated with X-chromosome nondisjunction, was three in both mutants compared to six in wild-type. The number of males produced in mnDp1 was 1.0%, in sDp1 it was 2.0%, while in wild-type it is 0.3%. Recombination nodules were not observed in any nuclei. The ultimate goal of these studies is to correlate the physical and genetic maps and in this study linkage group I has been identified in the pachytene nucleus.