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Codina-Pascual, M; Navarro, J; Oliver-Bonet, M; Kraus, J; Speicher, MR; Arango, O; Egozcue, J; Benet, J.
Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes.
Hum Reprod. 2006; 21(6): 1490-1497. Doi: 10.1093/humrep/del028 [OPEN ACCESS]
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Co-authors Med Uni Graz
Speicher Michael
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Abstract:
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.
Find related publications in this database (using NLM MeSH Indexing)
Centromere -
Chromosome Pairing -
Chromosomes, Human - ultrastructure
Chromosomes, Human, X - ultrastructure
Chromosomes, Human, Y - ultrastructure
Heterochromatin - chemistry
Humans - chemistry
In Situ Hybridization, Fluorescence - chemistry
Infertility, Male - genetics
Male - genetics
Meiosis - genetics
Synaptonemal Complex - ultrastructure
Testis - pathology

Find related publications in this database (Keywords)
heterochromatin
pachytene
subtelomere-specific multiplex fluorescence in-situ hybridisation
synapsis
synaptonemal complex
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