The interchromosomal spatial positionings of a subset of human chromosomes was examined in the human breast cell line MCF10A (10A) and its malignant counterpart MCF10CA1a (CA1a). The nine chromosomes selected (#1, 4, 11, 12, 15, 16, 18, 21 and X) cover a wide range in size and gene density and compose ∼40% of the total human genome. Radial positioning of the chromosome territories (CT) was size...

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Gene...

In budding yeast, targeting of active genes to the nuclear pore complex (NPC) and interchromosomal clustering is mediated by transcription factor (TF) binding sites in the gene promoters. For example, the binding sites for the TFs Put3, Ste12, and Gcn4 are necessary and sufficient to promote positioning at the nuclear periphery and interchromosomal clustering. However, in all three cases, gene ...

Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics. But they also occur as combinations of both types as in unstable rearrangements or in chaotic karyotypes of early stages of embryonic development. Depending on the indication for chromosome analysis—child with developmental retardat...

A mathematical model of the effects of interchromosomal biased gene conversion, mutation and natural selection on a multigene family is developed and analyzed. The model assumes two allelic states at each of n loci. The effects of genetic drift are ignored. The model is developed under the assumption of no recombination, but the analysis shows that, at equilibrium, there is no linkage disequili...

Recurrent chromosome translocations in nonhematological tumors are restricted to specific subtypes, and their mechanism is currently unknown. Analysis of the sequence data of 113 interchromosomal junctions derived from 77 Ewing's tumors carrying the characteristic t(11;22) translocation indicate that, in this tumor, translocations are initiated independently on each chromosome in regions that l...