High rates of de novo 15q11q13 inversions in human spermatozoa
<p>Abstract</p> <p>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 spermato...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-02-01
|
| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://www.molecularcytogenetics.org/content/5/1/11 |
| _version_ | 1811281762742960128 |
|---|---|
| author | Molina Òscar Anton Ester Vidal Francesca Blanco Joan |
| author_facet | Molina Òscar Anton Ester Vidal Francesca Blanco Joan |
| author_sort | Molina Òscar |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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 <it>de novo </it>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.</p> <p>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.</p> <p>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 (<it>P </it>< 0.05) previously reported as patients with increases of 15q11q13 deletions.</p> <p>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 <it>de novo </it>reorganizations by intrachromatid NAHR.</p> |
| first_indexed | 2024-04-13T01:39:28Z |
| format | Article |
| id | doaj.art-2a9e3fc1795744e2a4b6d81df583a7c3 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-13T01:39:28Z |
| publishDate | 2012-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-2a9e3fc1795744e2a4b6d81df583a7c32022-12-22T03:08:13ZengBMCMolecular Cytogenetics1755-81662012-02-01511110.1186/1755-8166-5-11High rates of de novo 15q11q13 inversions in human spermatozoaMolina ÒscarAnton EsterVidal FrancescaBlanco Joan<p>Abstract</p> <p>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 <it>de novo </it>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.</p> <p>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.</p> <p>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 (<it>P </it>< 0.05) previously reported as patients with increases of 15q11q13 deletions.</p> <p>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 <it>de novo </it>reorganizations by intrachromatid NAHR.</p>http://www.molecularcytogenetics.org/content/5/1/11Low Copy RepeatsNon-allelic Homologous Recombination15q11q13 InversionsSpermatozoaFluorescence <it>in situ </it>Hybridization |
| spellingShingle | Molina Òscar Anton Ester Vidal Francesca Blanco Joan High rates of de novo 15q11q13 inversions in human spermatozoa Molecular Cytogenetics Low Copy Repeats Non-allelic Homologous Recombination 15q11q13 Inversions Spermatozoa Fluorescence <it>in situ </it>Hybridization |
| title | High rates of de novo 15q11q13 inversions in human spermatozoa |
| title_full | High rates of de novo 15q11q13 inversions in human spermatozoa |
| title_fullStr | High rates of de novo 15q11q13 inversions in human spermatozoa |
| title_full_unstemmed | High rates of de novo 15q11q13 inversions in human spermatozoa |
| title_short | High rates of de novo 15q11q13 inversions in human spermatozoa |
| title_sort | high rates of de novo 15q11q13 inversions in human spermatozoa |
| topic | Low Copy Repeats Non-allelic Homologous Recombination 15q11q13 Inversions Spermatozoa Fluorescence <it>in situ </it>Hybridization |
| url | http://www.molecularcytogenetics.org/content/5/1/11 |
| work_keys_str_mv | AT molinaoscar highratesofdenovo15q11q13inversionsinhumanspermatozoa AT antonester highratesofdenovo15q11q13inversionsinhumanspermatozoa AT vidalfrancesca highratesofdenovo15q11q13inversionsinhumanspermatozoa AT blancojoan highratesofdenovo15q11q13inversionsinhumanspermatozoa |