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.
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.
Authors: Maria Bucksch; Monika Ziegler; Nadezda Kosayakova; Milene V Mulatinho; Milene V Mulhatino; Juan C Llerena; Susanne Morlot; Wolfgang Fischer; Anna D Polityko; Anna I Kulpanovich; Michael B Petersen; Britta Belitz; Vladimir Trifonov; Anja Weise; Thomas Liehr; Ahmed B Hamid Journal: J Histochem Cytochem Date: 2012-04-17 Impact factor: 2.479
Authors: Steven Hecht Orzack; J William Stubblefield; Viatcheslav R Akmaev; Pere Colls; Santiago Munné; Thomas Scholl; David Steinsaltz; James E Zuckerman Journal: Proc Natl Acad Sci U S A Date: 2015-03-30 Impact factor: 11.205
Authors: Jaganathan Suganya; Smita B Kujur; Kamala Selvaraj; Muthiah S Suruli; Geetha Haripriya; Chandra R Samuel Journal: J Clin Diagn Res Date: 2015-07-01
Authors: Raquel Garcia-Cruz; Pedro Robles; Eliana R Steinberg; Nuria Camats; Miguel A Brieño; Montserrat Garcia-Caldés; Marta D Mudry Journal: BMC Genet Date: 2009-06-05 Impact factor: 2.797