Journal Article

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of <i>de novo</i> constitutional t(11;22)s in sperm<sup>†</sup>

Maoqing Tong, Takema Kato, Kouji Yamada, Hidehito Inagaki, Hiroshi Kogo, Tamae Ohye, Makiko Tsutsumi, Jieru Wang, Beverly S. Emanuel and Hiroki Kurahashi

in Human Molecular Genetics

Volume 19, issue 13, pages 2630-2637
Published in print July 2010 | ISSN: 0964-6906
Published online April 2010 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddq150
Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm†

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The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms of the PATRR22 might also influence the translocation frequency. Although the complicated structure of the PATRR22 locus prevented determining the genotype of the PATRR22 in each individual, genotyping of flanking markers as well as identification of rare variants allowed us to demonstrate an association between the PATRR22 allele type and the translocation frequency. We found that size and symmetry of the PATRR22 affect the de novo translocation frequency, which is lower for the shorter or more asymmetric versions. These data lend support to our hypothesis that the PATRRs form secondary structures in the nucleus that induce genomic instability leading to the recurrent translocation.

Journal Article.  4308 words.  Illustrated.

Subjects: Genetics and Genomics

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