Nuclear localization of PRDM9 and its role in meiotic chromatin modifications and homologous synapsis

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• 作者：Fengyun Sun ; Yasuhiro Fujiwara ; Laura G. Reinholdt ; Jianjun Hu ; Ruth L. Saxl…
• 刊名：Chromosoma
• 出版年：2015
• 出版时间：September 2015
• 年：2015
• 卷：124
• 期：3
• 页码：397-415
• 全文大小：10,604 KB
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• 作者单位：Fengyun Sun (1)
  Yasuhiro Fujiwara (1)
  Laura G. Reinholdt (1)
  Jianjun Hu (1)
  Ruth L. Saxl (1)
  Christopher L. Baker (1)
  Petko M. Petkov (1)
  Kenneth Paigen (1)
  Mary Ann Handel (1)
  
  1. The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Cell Biology
  Developmental Biology
  Biochemistry
  Human Genetics
  Animal Genetics and Genomics
  Eukaryotic Microbiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0886

文摘

Developmental progress of germ cells through meiotic phases is closely tied to ongoing meiotic recombination. In mammals, recombination preferentially occurs in genomic regions known as hotspots; the protein that activates these hotspots is PRDM9, containing a genetically variable zinc finger (ZNF) domain and a PR-SET domain with histone H3K4 trimethyltransferase activity. PRDM9 is required for fertility in mice, but little is known about its localization and developmental dynamics. Application of spermatogenic stage-specific markers demonstrates that PRDM9 accumulates in male germ cell nuclei at pre-leptonema to early leptonema but is no longer detectable in nuclei by late zygonema. By the pachytene stage, PRDM9-dependent histone H3K4 trimethyl marks on hotspots also disappear. PRDM9 localizes to nuclei concurrently with the deposition of meiotic cohesin complexes, but is not required for incorporation of cohesin complex proteins into chromosomal axial elements, or accumulation of normal numbers of RAD51 foci on meiotic chromatin by late zygonema. Germ cells lacking PRDM9 exhibit inefficient homology recognition and synapsis, with aberrant repair of meiotic DNA double-strand breaks and transcriptional abnormalities characteristic of meiotic silencing of unsynapsed chromatin. Together, these results on the developmental time course for nuclear localization of PRDM9 establish its direct window of function and demonstrate the independence of chromosome axial element formation from the concurrent PRDM9-mediated activation of recombination hotspots. Electronic supplementary materialThe online version of this article (doi:10.-007/?s00412-015-0511-3) contains supplementary material, which is available to authorized users.