caa a22 4500 445861258 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s00439-010-0894-4 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0894-4 Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach [Elektronische Daten] [Oscar Molina, Ester Anton, Francesca Vidal, Joan Blanco] Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions and duplications of the 7q11.23, 15q11-q13 and 22q11.2 regions in spermatozoa from control donors to check differences in the susceptibility to generate anomalies and to assess the contribution of intra- and inter-chromatid NAHR events. Semen samples from ten control donors were processed by FISH. A customized combination of probes was used to discriminate among normal, deleted and duplicated sperm genotypes. A minimum of 10,000 sperm were assessed per sample and region. There were no differences in the mean frequency of deletions and duplications (del+dup) among the 7q11.23, 15q11-q13 and 22q11.2 regions (frequency±SEM, 0.37±0.02; 0.46±0.07 and 0.27±0.07%, respectively) (P=0.122). Nevertheless, hierarchical cluster analysis reveals interindividual differences suggesting that particular haplotypes could be the main source of variability in NAHR rates. The mean frequency of deletions was not different from the mean frequency of duplications in the 7q11.23 (P=0.202) and 15q11-q13 (P=0.609) regions, indicating a predominant inter-chromatid NAHR. By contrast, in the 22q11.2 region the frequency of deletions slightly exceed duplications (P=0.032), although at the individual level any donor showed differences. Altogether, our results support the inter-chromatid NAHR as the predominant mechanism involved in the generation of sperm deletions and duplications. Springer-Verlag, 2010 Molina Oscar Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut Anton Ester Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut Vidal Francesca Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut Blanco Joan Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut Human Genetics Springer-Verlag 129/1(2011-01-01), 35-44 0340-6717 129:1<35 2011 129 439 https://doi.org/10.1007/s00439-010-0894-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0894-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Molina Oscar Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut NATIONALLICENCE 700 1- Anton Ester Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut NATIONALLICENCE 700 1- Vidal Francesca Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut NATIONALLICENCE 700 1- Blanco Joan Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193, Bellaterra (Cerdanyola del Vallès), Spain aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/1(2011-01-01), 35-44 0340-6717 129:1<35 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer