Comparative genomic studies among highly divergent species have been problematic because reduced gene similarities make orthologous gene pairs difficult to identify and because colinearity is expected to be low with greater time since divergence from the last common ancestor. Nevertheless, synteny between divergent taxa in several lineages has been detected over short chromosomal segments. We h...

BACKGROUND Balanced chromosomal rearrangements represent one of the most frequent indications for preimplantation genetic diagnosis (PGD). Although fluorescence in situ hybridization (FISH) has been successfully employed for diagnosis in such cases, this approach usually restricts assessment of the chromosomes involved in the rearrangement. Furthermore, with FISH-based strategies, it is sometim...

BACKGROUND BCL6 gene rearrangement is the most frequent chromosomal abnormality in diffuse large B-cell lymphoma, a malignancy characterized by genetic heterogeneity and wide variability in clinical outcome. The prognostic significance of BCL6 rearrangement has not been evaluated in the context of rituximab therapy for diffuse large B-cell lymphoma. We analyzed the effect of the BCL6 rearrangem...

Genome rearrangements are large-scale evolutionary events that shuffle genomic architectures. The minimal number of such events between two genomes is often used in phylogenomic studies to measure the evolutionary distance between the genomes. Double-Cut-and-Join (DCJ) operations represent a convenient model of most common genome rearrangements (reversals, translocations, fissions, and fusions)...

I N 1927 H. J. MULLER (1890-1967) published in Science a paper entitled “Artificial Transmutation of the Gene.” It reported the first experimental production of mutations and opened a new era in genetics. The title is curious. Why transmutation rather than mutation? The answer emerges from another paper (MULLER 1928a), written in 1926. After reviewing the repeated failure of efforts by many wor...

Early relapse and minimal residual disease during clinical remission was examined in two patients having acute T-cell leukemia/lymphoma with the t(10;14)(q24;q11) chromosomal translocation. Molecular probes which can detect T-cell receptor alpha/delta clonal rearrangements and a TCL-3 probe which can detect the clonal rearrangement due to the chromosomal translocation failed to detect the leuke...

Chromosomal analysLs of peripheral leukocytes in patients being treated with nitrogen mustard, 6-mercaptopurine, and A649 demonstrated an increase in i>olyploidy, including cells show ing endoreduplication. With nitrogen mustard, up to 15% of cells cultured were polyploids; with 6-mercaptopurine, 9% polyploidy was evident; anrl when A-649 was used, up to 14% polyploidy was seen. Chromosomal dam...

Cytogenetic imbalance in the newborn is a frequent cause of mental retardation and birth defects. Although aneuploidy accounts for the majority of imbalance, structural aberrations contribute to a significant fraction of recognized chromosomal anomalies. This review describes the major classes of constitutional, structural cytogenetic abnormalities and recent studies that explore the molecular ...