Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers
Solé Canal, Mireia (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Blanco, Joan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Valero, Oliver (Universitat Autònoma de Barcelona. Departament de Matemàtiques)
Vergés, Laia (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Vidal, Francesca (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Sarrate Navas, Zaida (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)

Data:	2017
Resum:	Purpose: The study aims to determine whether there is an altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers. Methods: Metaphase I human spermatocytes from three 45,XY,der(13;14)(q10;q10) individuals and a 45,XY,der(14;15)(q10;q10) individual were analyzed. Proximity relationships of bivalents were established by analyzing meiotic preparations combining Leishman staining and multiplex-FISH procedures. Poisson regression model was used to determine proximity frequencies between bivalents and to assess associations with chromosome size, gene density, acrocentric morphology, and chromosomes with heterochromatic blocks. The hierarchical cluster Ward method was used to characterize the groups of bivalents with preferred proximities in a cluster analysis. Bivalent groups obtained were individually compared with those obtained in normal karyotype individuals evaluated in a previous study. Results: A total of 1288 bivalents were examined, giving a total of 2289 proximity data. Only four positive significant proximities were detected for each type of Robertsonian translocation. Significant bivalent associations were only observed by small-size chromosomes for MI,22,XY,III(13q14q). These results were clearly divergent from 46,XY individuals. Moreover, cluster analysis revealed that about 30 % of the bivalents showed changes in their proximity relationships in metaphase I. Conclusions: The territorial organization of bivalents in metaphase I human spermatocytes changes in the presence of a Robertsonian translocation.
Ajuts:	Agència de Gestió d'Ajuts Universitaris i de Recerca 2014/SGR-524
Drets:	Tots els drets reservats.
Llengua:	Anglès
Document:	Article ; recerca ; Versió acceptada per publicar
Matèria:	Chromosome territories ; Meiosis ; Metaphase I ; Robertsonian translocation ; Spermatocytes
Publicat a:	Journal of Assisted Reproduction and Genetics, Vol. 34 Núm. 1 (2017) , p. 131-138, ISSN 1573-7330

DOI: 10.1007/s10815-016-0809-y
PMID: 27655390

18 p, 2.7 MB

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