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Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
- Source :
- Molecular Cytogenetics
- Publication Year :
- 2014
- Publisher :
- BioMed Central, 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.
- Subjects :
- medicine.medical_specialty
Ring chromosome
Case Report
Biology
Biochemistry
Synapse complex
Andrology
Meiotic Prophase I
Prophase
Meiosis
Genetics
medicine
Transcriptional inactivation
Genetics(clinical)
Molecular Biology
Wolf–Hirschhorn syndrome
Genetics (clinical)
Biochemistry, medical
Biochemistry (medical)
Cytogenetics
Synapsis
Oligospermia
medicine.disease
Recombination
Chromosome 4
Molecular Medicine
Ring chromosome 4
Subjects
Details
- Language :
- English
- ISSN :
- 17558166
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Molecular Cytogenetics
- Accession number :
- edsair.doi.dedup.....baa7221285f5f38c92766cef44f27dd2