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

Mireia Solé, Joan Blanco, Oliver Valero, Laia Vergés, Francesca Vidal, Zaida Sarrate

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

© 2016, Springer Science+Business Media New York. 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.
Original languageEnglish
Pages (from-to)131-138
JournalJournal of Assisted Reproduction and Genetics
Volume34
Issue number1
DOIs
Publication statusPublished - 1 Jan 2017

Keywords

  • Chromosome territories
  • Meiosis
  • Metaphase I
  • Robertsonian translocation
  • Spermatocytes

Fingerprint Dive into the research topics of 'Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers'. Together they form a unique fingerprint.

  • Cite this