Abstract
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 with WT mice. 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 the arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number offoci 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 mice is consistent with the recently reported phenotype of the Rnf212 knockout mice; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene.
| Original language | English |
|---|---|
| Pages (from-to) | 67-74 |
| Number of pages | 8 |
| Journal | Reproduction |
| Volume | 149 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 1 2015 |
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ASJC Scopus subject areas
- Obstetrics and Gynaecology
- Reproductive Medicine
- Embryology
- Endocrinology
- Cell Biology
Cite this
An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. / Fujiwara, Yasuhiro; Matsumoto, Hirokazu; Akiyama, Kouyou; Srivastava, Anuj; Chikushi, Mizuho; Handel, Mary Ann; Kunieda, Tetsuo.
In: Reproduction, Vol. 149, No. 1, 01.01.2015, p. 67-74.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility
AU - Fujiwara, Yasuhiro
AU - Matsumoto, Hirokazu
AU - Akiyama, Kouyou
AU - Srivastava, Anuj
AU - Chikushi, Mizuho
AU - Handel, Mary Ann
AU - Kunieda, Tetsuo
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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 with WT mice. 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 the arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number offoci 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 mice is consistent with the recently reported phenotype of the Rnf212 knockout mice; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene.
AB - 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 with WT mice. 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 the arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number offoci 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 mice is consistent with the recently reported phenotype of the Rnf212 knockout mice; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene.
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U2 - 10.1530/REP-14-0122
DO - 10.1530/REP-14-0122
M3 - Article
VL - 149
SP - 67
EP - 74
JO - Reproduction
JF - Reproduction
SN - 1470-1626
IS - 1
ER -