An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility.
An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility.
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DOI：
10.1530/rep-14-0122
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发表时间：
2015-01
期刊：
影响因子：
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通讯作者：
Kunieda T
中科院分区：
文献类型：
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作者：
Fujiwara Y;Matsumoto H;Akiyama K;Srivastava A;Chikushi M;Ann Handel M;Kunieda T
ENU诱导的repro 57突变是在无偏筛选中发现的，目的是发现新的生育基因。雄性rep 57纯合子小鼠不育，与野生型相比睾丸重量显著降低。突变体睾丸组织学检查发现，精母细胞退化的后期前期，没有成熟的精子被发现在生精上皮，表明不育是由精子发生在减数分裂后期前期的逮捕。与这一假设相一致，MLH 1（一种交换所必需的蛋白质）的病灶数量在repro 57突变精母细胞中大大减少，这些精母细胞也缺乏同源物之间的交叉，并表现出XY染色体的过早解离。在rep 57突变小鼠中，我们发现了编码环指蛋白212的Rnf 212基因的突变。rep 57小鼠的总体表型与最近报道的Rnf 212敲除小鼠的表型一致;轻微差异可能是由于遗传背景效应。因此，rep 57无义突变提供了小鼠Rnf 212基因的新等位基因。
The ENU-induced repro57 mutation was identified in an unbiased screen for the discovery of novel genes for fertility. Male repro57 homozygous mice are infertile, and exhibit significantly reduced testis weight compared to wild type. Histological examination of mutant testes revealed that spermatocytes degenerated during late prophase, and no mature spermatozoa were found in the seminiferous epithelium, suggesting that infertility is caused by arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number of foci with MLH1, a protein essential for crossing over, is greatly reduced in repro57 mutant spermatocytes, which also lack chiasmata between homologs and exhibit premature dissociation of XY chromosomes. In repro57 mutant mice, we identified a mutation in the Rnf212 gene, encoding Ring Finger Protein 212. The overall phenotype of repro57 mouse is consistent with the recently reported phenotype of the Rnf212 knockout mouse; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene.