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Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers

  • Genetics
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Abstract

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.

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Acknowledgments

This study was supported by the Project 2014SGR-524 (Generalitat de Catalunya, Spain) and Project CF-180034 (Universitat Autònoma de Barcelona, Spain). The authors thank the Hospital Clínic de Barcelona and Instituto de Reproducción CEFER for providing biological samples of the patients analyzed. We also thank the Statistical Service of the Universitat Autònoma de Barcelona for its support in the statistical treatment of the results. This manuscript has been proofread by Proof-Reading-Service.org.

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Authors and Affiliations

  1. Genetics of Male Fertility Group. Unitat de Biologia Cel·lular. Departament de Biologia Cel·lular, Fisiologia i Immunologia. Facultat de Biociències, Universitat Autònoma de Barcelona, Bellaterra, (Cerdanyola del Vallès), 08193, Spain

    Mireia Solé, Joan Blanco, Laia Vergés, Francesca Vidal & Zaida Sarrate

  2. Servei d’Estadística Aplicada, Universitat Autònoma de Barcelona, Bellaterra, (Cerdanyola del Vallès), 08193, Spain

    Oliver Valero

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  1. Mireia Solé
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  2. Joan Blanco
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  4. Laia Vergés
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  5. Francesca Vidal
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  6. Zaida Sarrate
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Correspondence to Zaida Sarrate.

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Patients gave their informed consent with regard to the participation in the study, and protocols were approved by our Institutional Ethics Committee.

Additional information

Capsule The territorial organization of bivalents in metaphase I human spermatocytes changes in the presence of a Robertsonian translocation.

Appendix

Appendix

Appendix 1 Count example proximities between the bivalents in MI,22,XY,III(14q15q)
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Appendix 2 Incidence counts of proximities between the bivalents in MI,22,XY,III(13q14q) (n = 41)
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Appendix 3 Incidence counts of proximities between the bivalents in MI,22,XY,III(14q15q) (n = 15)
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Solé, M., Blanco, J., Valero, O. et al. Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers. J Assist Reprod Genet 34, 131–138 (2017). https://doi.org/10.1007/s10815-016-0809-y

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