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PMID: 18765821 Published · ppublish English Journal Article

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).

Genome research ·Vol. 18 ·No. 11 ·2008-11-00 ·Pages 1733-42

Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG

Abstract

Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypically normal balanced translocation carriers. Eight breakpoint junctions derived from four nonrelated subjects with apparently balanced translocation t(1;22)(p36;q13) were examined. Additions of nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate high complexity at the breakpoint junctions and indicate involvement of multiple mechanisms in the DNA breakage and repair process during translocation formation. Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated.

MeSH Terms
Base Sequence Chromosome Breakage Chromosomes, Human, Pair 1/genetics Chromosomes, Human, Pair 22/genetics DNA/genetics DNA Repair Female Humans Male Models, Genetic Molecular Sequence Data Phenotype Translocation, Genetic
Chemicals
DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Gajecka Marzena
School of Molecular Biosciences, Washington State University, Spokane, Washington 99202, USA.
Gentles Andrew J
Tsai Albert
Chitayat David
Mackay Katherine L
Glotzbach Caron D
Lieber Michael R
Shaffer Lisa G
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.077453.108
Published
2008-11-00
Epub
2008-00-02
Pages
1733-42
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC2577863
Subset
IM
External Links
PubMed source DOI: 10.1101/gr.077453.108 PMC Full Text View journal details
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