Journal Article

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

Hiroki Kurahashi, Tamim H. Shaikh, Ping Hu, Bruce A. Roe, Beverly S. Emanuel and Marcia L. Budarf

in Human Molecular Genetics

Volume 9, issue 11, pages 1665-1670
Published in print July 2000 | ISSN: 0964-6906
Published online July 2000 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/9.11.1665
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

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The constitutional t(11;22)(q23;q11) is the only known recurrent, non-Robertsonian translocation. To analyze the genomic structure of the breakpoint, we have cloned the junction fragments from the der(11) and der(22) of a t(11;22) balanced carrier. On chromosome 11 the translocation occurs within a short, palindromic AT-rich region (ATRR). Likewise, the breakpoint on chromosome 22 has been localized within an ATRR that is part of a larger palindrome. Interestingly, the 22q11 breakpoint falls within one of the ‘unclonable’ gaps in the genomic sequence. Further, a sequenced chromosome 11 BAC clone, spanning the t(11;22) breakpoint in 11q23, is deleted within the palindromic ATRR, suggesting instability of this region in bacterial clones. Several unrelated t(11;22) families demonstrate similar breakpoints on both chromosomes, indicating that their translocations are within the same palindrome. It is likely that the palindromic ATRRs produce unstable DNA structures in 22q11 and 11q23 that are responsible for the recurrent t(11;22) translocation.

Journal Article.  4248 words.  Illustrated.

Subjects: Genetics and Genomics

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