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Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
- Source :
- Molecular Cytogenetics (17558166); 2014, Vol. 7 Issue 1, p2-13, 12p
- Publication Year :
- 2014
-
Abstract
- Background Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3. Results Synapsis (as SCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining. In the oligospermia patient, 35.4% of spermatocytes were in zygotene phase compared with 5.2% in controls. The patient had a significantly reduced recombination frequency with mean of 45.9 MLH1 foci/cell compared with 47.8 in controls. In the patient, chromosome 4 in all pachytene cells displayed loop formation with varying degrees of unpaired regions. BRCA1 localized along asynapsed regions regardless of XY body association. Conclusions Ring chromosome 4 might affect the progression of meiosis I prophase, synapse formation, and transcriptional activation of asynapsed areas, and impair male fertility. [ABSTRACT FROM AUTHOR]
- Subjects :
- WOLF-Hirschhorn syndrome
CHROMOSOME abnormalities
OLIGOSPERMIA
MEIOSIS
BIOPSY
Subjects
Details
- Language :
- English
- ISSN :
- 17558166
- Volume :
- 7
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Molecular Cytogenetics (17558166)
- Publication Type :
- Academic Journal
- Accession number :
- 97179300
- Full Text :
- https://doi.org/10.1186/1755-8166-7-45