A New ENU-Induced Mutant Mouse with Defective Spermatogenesis Caused by a Nonsense Mutation of the Syntaxin 2/Epimorphin (Stx2/Epim) Gene

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<i>Repro34</i> is an <i>N</i>-ethyl-<i>N</i>-nitrosourea (ENU)-induced mutation in mice showing male-specific infertility caused by defective spermatogenesis. In the present study, we investigated pathogenesis and molecular lesions in relation to spermatogenesis in the <i>repro34/repro34</i> homozygous mouse. Histological examination of the testis showed that the seminiferous epithelium of the <i>repro34/repro34</i> mouse contained spermatogonia and spermatocytes but no round and elongating spermatids. Instead of these haploid cells, multinucleated giant cells occupied the niche of the seminiferous tubules. Immunohistochemical staining for Hsc70t, an elongating spermatid specific protein, confirmed the absence of elongating spermatids. Furthermore, RT-PCR showed that there were significantly reduced expressions of the marker genes specifically expressed in the spermatid and that there was no difference in the expressions of the spermatocyte specific marker genes. These findings indicated interruption of the spermatogenesis during transition from the spermatocyte to spermatid in the <i>repro34/repro34</i> mouse. The <i>repro34</i> locus has been mapped on a 7.0-Mb region of mouse chromosome 5 containing the Syntaxin 2/Epimorphin (<i>Stx2/Epim</i>) gene, and targeted disruption of this gene has been reported to cause defective spermatogenesis. We therefore sequenced the entire coding region of the <i>Stx2/Epim</i> gene and found a nucleotide substitution that results in a nonsense mutation of this gene. The expression pattern of the <i>Stx2/Epim</i> gene during the first wave of spermatogenesis, increased expression at later stages of spermatogenesis, was in agreement with the affected phase of spermatogenesis in the adult <i>repro34/repro34</i> testis. We therefore concluded that the male infertility of the <i>repro34/repro34</i> mouse is caused by the interruption of spermatogenesis during transition from the spermatocyte to spermatid and that the nonsense mutation of the <i>Stx2/Epim</i> gene is responsible for the interruption of spermatogenesis.<br>

収録刊行物

  • The Journal of reproduction and development  

    The Journal of reproduction and development 54(2), 122-128, 2008-04-01 

    THE SOCIETY FOR REPRODUCTION AND DEVELOPMENT

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各種コード

  • NII論文ID(NAID)
    10021218922
  • NII書誌ID(NCID)
    AA10936678
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    09168818
  • NDL 記事登録ID
    9470140
  • NDL 雑誌分類
    ZR22(科学技術--農林水産--畜産)
  • NDL 請求記号
    Z54-H305
  • データ提供元
    CJP書誌  CJP引用  NDL  J-STAGE 
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