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Segura J.,Institute Of Biotecnologia I Biomedicina Ibb | Ferretti L.,Center for Research in Agricultural Genomics UAB UB | Ramos-Onsins S.,Center for Research in Agricultural Genomics UAB UB | Capilla L.,Institute Of Biotecnologia I Biomedicina Ibb | And 9 more authors.
Proceedings of the Royal Society B: Biological Sciences

Recombination allows faithful chromosomal segregation during meiosis and contributes to the production of new heritable allelic variants that are essential for the maintenance of genetic diversity. Therefore, an appreciation of how this variation is created and maintained is of critical importance to our understanding of biodiversity and evolutionary change. Here, we analysed the recombination features from species representing the major eutherian taxonomic groups Afrotheria, Rodentia, Primates and Carnivora to better understand the dynamics of mammalian recombination. Our results suggest a phylogenetic component in recombination rates (RRs), which appears to be directional, strongly punctuated and subject to selection. Species that diversified earlier in the evolutionary tree have lower RRs than those from more derived phylogenetic branches. Furthermore, chromosome-specific recombination maps in distantly related taxa show that crossover interference is especially weak in the species with highest RRs detected thus far, the tiger. This is the first example of a mammalian species exhibiting such low levels of crossover interference, highlighting the uniqueness of this species and its relevance for the study of the mechanisms controlling crossover formation, distribution and resolution. © 2013 The Author(s) Published by the Royal Society. All rights reserved. Source

Plaja A.,Hospital Universitari Vall dHebron | Plaja A.,Autonomous University of Barcelona | Castells N.,Hospital Universitari Vall dHebron | Cueto-Gonzalez A.M.,Hospital Universitari Vall dHebron | And 10 more authors.
Cytogenetic and Genome Research

Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multisystem involvement and variable expressivity. We found 2 patients with a deletion and 1 patient with a duplication in this region sharing a common breakpoint located between the LIMK1 and EIF4H(WBSCR1) genes. One patient had a WBS phenotype, although testing with a commercially available FISH assay was negative for the deletion. A further test using array CGH showed an atypical WBS region deletion. The second patient showed global developmental delay, speech delay and poor motor skills with a deletion outside the WBS region. The third patient had manifestations compatible with an autism spectrum disorder showing a duplication in the WBS region. Our findings point to the existence of a previously unrecognized recurrent breakpoint responsible for rearrangements in the WBS region. Given that most commercial FISH assays include probes flanking this novel breakpoint, further testing with array CGH should be performed in patients with WBS and negative FISH results. © 2015 S. Karger AG, Basel. Source

Garcia-Peiro A.,Fisiologia i Immunologia | Garcia-Peiro A.,University of Barcelona | Martinez-Heredia J.,Fisiologia i Immunologia | Oliver-Bonet M.,Fisiologia i Immunologia | And 7 more authors.
Fertility and Sterility

Objective: To investigate the relationship between the protamine 1 to protamine 2 (P1/P2) ratio and the rate of sperm DNA fragmentation in sperm samples from human males with proven fertility and three different cohorts of male patients. Design: P1/P2 ratio was analyzed using acid-urea polyacrylamide acid-urea gels electrophoresis (PAGE). Sperm DNA fragmentation using sperm chromatin dispersion methodology was analyzed after 0, 4, 8, and 24 hours of incubation at 37°C. Setting: University medical school and hospital. Patient(s): A total of 32 human males: six with proven fertility, seven carriers of chromosome reorganizations, nine clinical varicocele patients, and ten subclinical varicocele patients. Intervention(s): None. Main Outcome Measure(s): P1/P2 ratio, sperm DNA fragmentation (SDF) and the rate of sperm DNA fragmentation (rSDF). Result(s): P1/P2 ratio correlated with SDF and rSDF. Statistical differences were detected between fertile controls and patients for the three pathologies studied. rSDF yielded information that differed from baseline SDF. No differences were detected for P1/P2 ratio among patient groups, in reference to the three pathologies studied. Conclusion(s): SDF and rSDF correlates with P1/P2 ratio in human sperm, and statistical differences were detected when fertile controls were compared with three different cohorts of patients. © 2011 American Society for Reproductive Medicine, Published by Elsevier Inc. Source

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