The Evolution of satellite III DNA subfamilies among primates.

We demonstrate that satellite III (SatIII) DNA subfamilies cloned from human acrocentric chromosomes arose in the Hominoidea superfamily. Two groups, distinguished by sequence composition, evolved nonconcurrently, with group 2 evolving 16-23 million years ago (MYA) and the more recent group 1 sequences emerging approximately 4.5 MYA. We also show the relative order of emergence of each group 2 subfamily in the various primate species. Our results show that each SatIII subfamily is an independent evolutionary unit, that the rate of evolution is not uniform between species, and that the evolution within a species is not uniform between chromosomes.

Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.

It has been estimated that a few hundred children are born each year in the United States with translocation Down syndrome. About 5% of the cases with Down syndrome carry a Robertsonian translocation involving chromosome 21. The case described here is a patient with Down syndrome who showed mosaicism for two cell lines. Each cell line contains a different, de novo acrocentric rearrangement. We constructed somatic cell hybrids from the patient's cells and determined the parental origins of the rearrangements by molecular and fluorescence in situ hybridization (FISH) analyses. The analysis showed that the rob(14q21q) formed between a paternally inherited chromosome 21 and a maternally inherited chromosome 14, indicating that this rearrangement formed post-zygotically. Further molecular analysis also determined that the rea(21q21q) is an isochromosome of paternal origin. The cell line containing the isochromosome is unbalanced, resulting in trisomy 21. Because the same paternal chromosome 21 was involved in both the isochromosome and the Robertsonian translocation, we speculate that an unstable chromosome 21 was stabilized either through formation of a rob(14q21q) or through formation of an isochromosome. The mechanism proposed for the formation of the rob(14q21q) in this case is different from that for most de novo rob(14q21q), but similar to a previously reported mosaic case of Down syndrome.

Parental origin and timing of de novo Robertsonian translocation formation.

Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans. ROBs are whole-arm rearrangements between the acrocentric chromosomes 13-15, 21, and 22. ROBs can be classified into two groups depending on their frequency of occurrence, common (rob(13q14q) and rob(14q21q)), and rare (all remaining possible nonhomologous combinations). Herein, we have studied 29 case subjects of common and rare de novo ROBs to determine their parental origins and timing of formation. We compared these case subjects to 35 published case subjects of common ROBs and found that most common ROBs apparently have the same breakpoints and arise mainly during oogenesis (50/54). These probably form through a common mechanism and have been termed "class 1." Collectively, rare ROBs also occur mostly during oogenesis (7/10) but probably arise through a more "random" mechanism or a variety of mechanisms and have been termed "class 2." Thus, we demonstrate that although both classes of ROBs occur predominantly during meiosis, the common, class 1 ROBs occur primarily during oogenesis and likely form through a mechanism distinct from that forming class 2 ROBs.