Breakpoint Diversity Illustrates Distinct Mechanisms for Robertsonian Translocation Formation

Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been...

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Bibliographic Details
Published in:Human molecular genetics 1996-09, Vol.5 (9), p.1279-1288
Main Authors: Page, Scott L., Shin, Jong-Chul, Han, Jin-Yeong, Andy Choo, K. H., Shaffer, Lisa G.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosomes, Human, Pair 11 - genetics
Cytogenetics
DNA Probes
DNA, Satellite - genetics
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Translocation, Genetic - genetics
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Summary:Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been proposed as a mechanism leading to the preferential formation of rob(13q14q) and rob(14q21q). However, little evidence exists to indicate whether the remaining less common Robertsonian translocations form through a similar mechanism. To better elucidate the mechanisms involved in Robertsonian translocation formation, we have used fluorescence in situ hybridization to localize the breakpoints in 56 nonhomologous Robertsonian translocations. This study revealed highly variable locations of breakpoints in seven types of the less common Robertsonians, while nearly all rob(13q14q) and rob(14q21q) analyzed displayed breakpoints in the same locations. Therefore, this study provides direct evidence that rob(13q14q) and rob(14q21q) form through a specific mechanism, possibly involving homologous recombination, which is distinct from the mechanism(s) that contributes to the formation of the remaining types of Robertsonian translocations.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/5.9.1279