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Case report of apoptosis in testis of four AZFc-deleted patients: increased DNA fragmentation during meiosis, but decreased apoptotic markers in post-meiotic germ cells
- Source :
- Human Reproduction, Human Reproduction, 2012, 27 (7), pp.1939-1945. ⟨10.1093/humrep/des128⟩, Human Reproduction, Oxford University Press (OUP), 2012, 27 (7), pp.1939-1945. ⟨10.1093/humrep/des128⟩
- Publication Year :
- 2012
- Publisher :
- HAL CCSD, 2012.
-
Abstract
- AZFc deletions of the Y chromosome are the major known genetic cause of spermatogenetic failure. Meiotic studies have shown a prevalence of synaptonemal complex fragmentation and an excess of early-stage sperm cells, suggesting that the maturation block could involve apoptosis. We present a prospective and observational study of apoptotic markers in the sperm of four AZFc-deleted patients and two non-obstructive azoospermic controls without an AZFc deletion. Polycaspases assays and terminal deoxynucleotidyl transferase dUDP nick-end labelling (TUNEL) assays were combined to evaluate the incidence of apoptosis in pre-meiotic, meiotic and post-meiotic germs cells identified, respectively, using anti-melanoma-associated antigen A4 (MAGE-A4), anti-synaptonemal complex protein 3 (SCP3) and anti-sperm acrosome membrane-associated protein 1 (SPACA1) antibodies. We detected apoptosis at all stages of AZFc-deletion spermatogenesis. Using the caspase assay, the incidence of positive cells was found to be heterogeneous for pre-meiotic (from 4.8 to 84.5%) and meiotic stages (from 7.9 to 57.6%), while for post-meiotic cells, the mean incidence was 6% in AZFc-deleted patients compared with 26.5% in controls (P < 0.05). Using the TUNEL assay, the mean percentage with DNA fragmentation for meiotic cells was 54.0% in AZFc-deleted patients compared with 20.3% in controls (P < 0.05), while the percentage of TUNEL-positive post-meiotic cells ranged from 5.3 to 44.7%. Spermatocyte loss in AZFc-deleted patients occurs via the apoptotic pathway. In post-meiotic cells, the lower incidence of apoptosis in testis from three of the four AZFc-deleted patients, compared with controls, is consistent with AZFc deletions having little negative impact on sperm quality.
- Subjects :
- Adult
Male
caspase
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology
DNA fragmentation
Spermatocyte
Biology
03 medical and health sciences
0302 clinical medicine
Spermatocytes
Testis
In Situ Nick-End Labeling
medicine
Humans
meiosis
Fragmentation (cell biology)
Azoospermia
030304 developmental biology
0303 health sciences
Chromosomes, Human, Y
030219 obstetrics & reproductive medicine
TUNEL assay
urogenital system
Rehabilitation
apoptosis
Obstetrics and Gynecology
Molecular biology
Sperm
3. Good health
Enzyme Activation
Germ Cells
Phenotype
medicine.anatomical_structure
Microscopy, Fluorescence
Reproductive Medicine
Terminal deoxynucleotidyl transferase
Apoptosis
Caspases
Karyotyping
AZFc Y deletion
Spermatogenesis
Gene Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 02681161 and 14602350
- Database :
- OpenAIRE
- Journal :
- Human Reproduction, Human Reproduction, 2012, 27 (7), pp.1939-1945. ⟨10.1093/humrep/des128⟩, Human Reproduction, Oxford University Press (OUP), 2012, 27 (7), pp.1939-1945. ⟨10.1093/humrep/des128⟩
- Accession number :
- edsair.doi.dedup.....71cc0086ba31a55f962ec3d5821de64f