Significance CENP-A, the histone H3 variant that forms a unique centromeric chromatin, is essential for faithful chromosome segregation during mitosis. Inability to connect centromere mitotic spindle causes aneuploidy, hallmark of many cancers. In addition missegregation, fusions at (peri)centromeres are prevalent in cancers, but how such rearrangements arise remains unclear. Here, we identifie...

Translocation is a widely used conservation tool for reintroducing, introducing or restocking wildlife purposes. Disease and parasites are often unintended hitchhikers during translocations. Conservation managers have begun considering the health, disease risk parasite loads of their species post-translocation, but not translocation itself. When diseases considered translocation, they dealt wit...

BACKGROUND Chromosome translocations involving the immunoglobulin heavy chain gene (IgH) on 14q32 are a seminal event in the pathogenesis of many B-cell malignancies. Since myeloma is a post-germinal center tumor of mature, isotype switched plasma cells, we hypothesized that 14q32 translocations would usually involve IgH switch regions. MATERIALS AND METHODS We analyzed a panel of 21 human my...

Karyotypes in multiple myeloma (MM) are complex and exhibit numerous structural and numerical aberrations. The largest subset of structural chromosome anomalies in clinical specimens and cell lines involves aberrations of chromosome 1. Unbalanced translocations and duplications involving all or part of the whole long arm of chromosome 1 presumably occur as secondary aberrations and are associat...

It has been suggested that translocations, and perhaps other chromosome rearrangements, disturb meiotic disjunction of uninvolved chromosome pairs and predispose to trisomic offspring. If so, then one would expect an excess of translocations not involving chromosome 21 among the parents of regular trisomic Down's syndrome patients. Such translocations have been reported, but mostly as anecdotal...

Unbalanced translocations are a relatively common type of copy number variation and a major contributor to neurodevelopmental disorders. We analyzed the breakpoints of 57 unique unbalanced translocations to investigate the mechanisms of how they form. Fifty-one are simple unbalanced translocations between two different chromosome ends, and six rearrangements have more than three breakpoints inv...

Chromosomal translocations are one of the most common types of genetic rearrangements and are molecular signatures for many types of cancers. They are considered as primary causes for cancers, especially lymphoma and leukemia. Although many translocations have been reported in the last four decades, the mechanism by which chromosomes break during a translocation remains largely unknown. In this...

Two initially presumed Yqh translocations, one to Xp and another to 21p, were assessed by conventional banding procedures, 5-azacytidine treatment, electron microscopy, and fluorescence in situ hybridisation. While the Yqh nature of the heterochromatic block from Xp was confirmed, this was not the case with the 21ph+ variant. In conclusion, conventional banding techniques are insufficient to di...

Activation-induced deaminase initiates three different antibody diversification reactions: class switch recombination, somatic hypermutation (SHM), and gene conversion. We have shown that, in addition to antibody diversification, activation-induced deaminase can also initiate Burkitt's lymphoma-like c-myc/IgH translocations. However, distinct DNA damage- and oncogene-induced checkpoints operate...

purpose: to report a relatively rare case of familial exudative vitreoretinopathy (fevr). patient and findings: a 13-year-old boy referred with decreased visual acuity of both eyes, specially right eye from 6 years ago. he had several ophthalmologist and optometrist visits and spectacle prescription without any improvement of vision. best corrected visual acuity (bcva) was 25 cm of count finger...