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An azoospermic man with a double-strand DNA break-processing deficiency in the spermatocyte nuclei: case report.
- Source :
-
Human reproduction (Oxford, England) [Hum Reprod] 2006 May; Vol. 21 (5), pp. 1194-203. Date of Electronic Publication: 2006 Feb 22. - Publication Year :
- 2006
-
Abstract
- Background: The mechanisms of meiotic arrest in human spermatogenesis are poorly known.<br />Methods and Results: A testicular biopsy from an azoospermic male showed complete spermatogenesis arrest at the spermatocyte stage, asynapsis, lack of formation of the XY body, partial reversion to a mitotic-like division and cell degeneration both at the prophase and at the abnormal cell divisions. Synaptonemal complex analysis showed minor segments of synapsis and mainly single axes. Fluorescent immunolocalization of meiotic proteins showed normal SYCP3, scarcity of SYCP1, null MLH1 foci, about 10 patches of gamma-H2AX, abnormal presence of BRCA1 among autosomal axes, absence of RAD51 in early and advanced spermatocytes and permanence of gamma-H2AX labelling up to the abnormal spermatocyte divisions that are the most advanced stage reached. There are at least six dominions of evenly packed chromatin resembling that of the normal XY body, but no true XY body.<br />Conclusions: The protein phenotype and the fine structure of the nuclei are compatible with a deficiency of the processing of double-strand DNA breaks in the zygotene-like spermatocytes, but the features of this defect do not agree with Spo11, Sycp1, Atm and Dmc1 null mutations, which give absence of XY body, synapsis disturbances and spermatocyte apoptosis in mice.
- Subjects :
- Adaptor Proteins, Signal Transducing
Adenosine Triphosphatases genetics
Adult
Ataxia Telangiectasia Mutated Proteins
BRCA1 Protein analysis
Carrier Proteins
Cell Cycle Proteins analysis
Cell Cycle Proteins genetics
Cell Nucleus chemistry
Cell Nucleus metabolism
Cell Nucleus ultrastructure
Chromosome Pairing genetics
DNA metabolism
DNA-Binding Proteins analysis
DNA-Binding Proteins genetics
Endodeoxyribonucleases
Esterases genetics
Histones analysis
Humans
Male
Meiosis genetics
MutL Protein Homolog 1
Mutation
Nuclear Proteins analysis
Nuclear Proteins genetics
Oligospermia genetics
Protein Serine-Threonine Kinases analysis
Rad51 Recombinase analysis
Spermatocytes chemistry
Spermatocytes metabolism
Synaptonemal Complex chemistry
Synaptonemal Complex genetics
Testis pathology
Tumor Suppressor Proteins analysis
DNA Damage genetics
DNA Repair
Oligospermia metabolism
Spermatocytes ultrastructure
Spermatogenesis genetics
Synaptonemal Complex metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0268-1161
- Volume :
- 21
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Human reproduction (Oxford, England)
- Publication Type :
- Academic Journal
- Accession number :
- 16495306
- Full Text :
- https://doi.org/10.1093/humrep/dei479