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High rates of de novo 15q11q13 inversions in human spermatozoa

Overview of attention for article published in Molecular Cytogenetics, February 2012
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High rates of de novo 15q11q13 inversions in human spermatozoa
Published in
Molecular Cytogenetics, February 2012
DOI 10.1186/1755-8166-5-11
Pubmed ID

Òscar Molina, Ester Anton, Francesca Vidal, Joan Blanco


Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS) fathers have an increased susceptibility to generate 15q11q13 deletions in spermatozoa, suggesting the participation of intrachromatid exchanges. This work has been focused on assessing the incidence of de novo 15q11q13 inversions in spermatozoa of control donors and PWS fathers in order to determine the basal rates of inversions and to confirm the intrachromatid mechanism as the main cause of 15q11q13 anomalies.Semen samples from 10 control donors and 16 PWS fathers were processed and analyzed by triple-color FISH. Three differentially labeled BAC-clones were used: one proximal and two distal of the 15q11-q13 region. Signal associations allowed the discrimination between normal and inverted haplotypes, which were confirmed by laser-scanning confocal microscopy.Two types of inversions were detected which correspond to the segments involved in Class I and II PWS deletions. No significant differences were observed in the mean frequencies of inversions between controls and PWS fathers (3.59% ± 0.46 and 9.51% ± 0.87 vs 3.06% ± 0.33 and 10.07% ± 0.74). Individual comparisons showed significant increases of inversions in four PWS fathers (P < 0.05) previously reported as patients with increases of 15q11q13 deletions.Results suggest that the incidence of heterozygous inversion carriers in the general population could reach significant values. This situation could have important implications, as they have been described as predisposing haplotypes for genomic disorders. As a whole, results confirm the high instability of the 15q11-q13 region, which is prone to different types of de novo reorganizations by intrachromatid NAHR.

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The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 7%
Ireland 1 7%
Unknown 13 87%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 27%
Researcher 4 27%
Lecturer > Senior Lecturer 2 13%
Professor 2 13%
Unspecified 2 13%
Other 1 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 11 73%
Unspecified 3 20%
Biochemistry, Genetics and Molecular Biology 1 7%