دورية أكاديمية
Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man
| العنوان: | Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man |
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| المؤلفون: | Longepied, Guy, Saut, Noemie, Aknin-Seifer, Isabelle, Levy, Rachel, Frances, Anne-Marie, Metzler-Guillemain, Catherine, Guichaoua, Marie-Roberte, Mitchell, Michael J. |
| بيانات النشر: | Oxford University Press |
| سنة النشر: | 2010 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Reproductive genetics |
| الوصف: | BACKGROUND Deletion of the entire AZFb interval from the Y chromosome is strictly associated with azoospermia arising from maturation arrest during meiosis. Here, we describe the exceptional case of an oligozoospermic man, 13-1217, with an AZFb + c (P5/distal-P1) deletion. Through the characterization of this patient, and two AZFb (P5/proximal-P1) patients with maturation arrest, we have explored three possible explanations for his exceptionally progressive spermatogenesis. METHODS AND RESULTS We have determined the precise breakpoints of the deletion in 13-1217, and shown that 13-1217 is deleted for more AZFb material than one of the AZFb -deleted men (13-5349). Immunocytochemical analysis of spermatocytes with an antibody against a synaptonemal complex component indicates synapsis to be largely unaffected in 13-1217, in contrast to 13-5349 where extended asynapsis is frequent. Using PCR-based analyses of RNA and DNA from the same testicular biopsy, we show that 13-1217 expresses post-meiotic germ cell markers in the absence of genomic DNA and transcripts from the AZFb and AZFc intervals. We have determined the Y chromosome haplogroup of 13-1217 to be HgL-M185. CONCLUSIONS Our results indicate that the post-meiotic spermatogenesis in 13-1217 is not a consequence of mosaicism or retention of a key AZFb gene. On the contrary, since the Hg-L Y chromosome carried by 13-1217 is uncommon in Western Europe, a Y-linked modifier locus remains a possible explanation for the oligozoospermia observed in patient 13-1217. Further cases must now be studied to understand how germ cells complete spermatogenesis in the absence of the AZFb interval. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| العلاقة: | http://humrep.oxfordjournals.org/cgi/content/short/25/10/2655Test; http://dx.doi.org/10.1093/humrep/deq209Test |
| DOI: | 10.1093/humrep/deq209 |
| الإتاحة: | https://doi.org/10.1093/humrep/deq209Test http://humrep.oxfordjournals.org/cgi/content/short/25/10/2655Test |
| حقوق: | Copyright (C) 2010, European Society of Human Reproduction and Embryology |
| رقم الانضمام: | edsbas.CC220D2A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/humrep/deq209 |
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