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Hum. Reprod. Advance Access originally published online on February 16, 2006
Human Reproduction 2006 21(6):1490-1497; doi:10.1093/humrep/del028
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes

M. Codina-Pascual1,4, J. Navarro1, M. Oliver-Bonet1, J. Kraus2, M.R. Speicher2, O. Arango3, J. Egozcue1 and J. Benet1,4

1 Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain, 2 Institut für Humangenetik, Technische Universität, München and GSF–Gesellschaft für Umwelt und Gesundheit, Neuherberg, Germany and 3 Departament d’Urologia, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

4 To whom correspondence should be addressed at: Department de Biologia Cel·lular, Fisiologia i Immunologia, Facultat Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain. E-mail: jordi.benet{at}uab.es/montserrat.codina{at}uab.es

BACKGROUND: Alterations of synapsis can disturb or arrest meiosis and result in infertility. Synaptic abnormalities are frequently observed in infertile patients but also in fertile men. METHODS: The subtelomere-specific multiplex fluorescence in-situ hybridization (stM-FISH) has been applied in combination with immunofluorescence to identify all synaptonemal complexes (SCs) and to analyse those presenting synaptic anomalies in fertile and infertile men. RESULTS: SCs with heterochromatin blocks other than centromere (noncentromeric heterochromatin) presented a higher frequency of gaps (SC discontinuities) and splits (unsynapsed SC regions) at pachytene, the incidences for 9qh, 1qh, 15p and 21p being the highest ones. Inter-individual variability in the incidence of synaptic anomalies in these regions has been observed. In addition, synaptic anomalies in other SC regions are more frequent in infertile cases than in controls. Clear association of the SC15 and SC21 to the XY pair has been seen. CONCLUSION: Noncentromeric heterochromatic regions are the last to synapse. The inter-individual variation observed in the incidence of gaps and splits in these regions may be explained by the heteromorphism of these regions in the general population. The presence of synaptic anomalies in other SC regions may indicate nuclei with a severely affected synapsis. Noncentromeric heterochromatic regions might play a role in the association of autosomal SC15 and SC21 with the XY pair.

Key words: heterochromatin/pachytene/subtelomere-specific multiplex fluorescence in-situ hybridisation/synapsis/synaptonemal complex


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