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Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population

Influences of chromosome size, gene density and nuclear position on the frequency of... Translocations are the most frequent chromosome structural aberration in the human population, yet little is known about their aetiology. Here, factors that might influence the occurrence of constitutional translocations in the population are examined. By analysing >10 000 translocations from two large databases of cytogenetic abnormalities, chromosome size is identified as the major determinant of translocation frequency. This probably reflects the large target size for double-strand breakage and repair presented by the largest chromosomes. There is also evidence for selection against translocations that involve breakage through the most gene-dense chromosomes. Lastly, it is suggested that nuclear organization of chromosomes impinges on the frequency of translocations amongst the smallest autosomes. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Chromosome Research Springer Journals

Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population

Chromosome Research , Volume 10 (8) – Oct 10, 2004

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References (62)

Publisher
Springer Journals
Copyright
Copyright © 2002 by Kluwer Academic Publishers
Subject
Life Sciences; Human Genetics; Microbial Genetics and Genomics; Animal Genetics and Genomics
ISSN
0967-3849
eISSN
1573-6849
DOI
10.1023/A:1021589031769
Publisher site
See Article on Publisher Site

Abstract

Translocations are the most frequent chromosome structural aberration in the human population, yet little is known about their aetiology. Here, factors that might influence the occurrence of constitutional translocations in the population are examined. By analysing >10 000 translocations from two large databases of cytogenetic abnormalities, chromosome size is identified as the major determinant of translocation frequency. This probably reflects the large target size for double-strand breakage and repair presented by the largest chromosomes. There is also evidence for selection against translocations that involve breakage through the most gene-dense chromosomes. Lastly, it is suggested that nuclear organization of chromosomes impinges on the frequency of translocations amongst the smallest autosomes.

Journal

Chromosome ResearchSpringer Journals

Published: Oct 10, 2004

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