An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility

Yasuhiro Fujiwara, Hirokazu Matsumoto, Kouyou Akiyama, Anuj Srivastava, Mizuho Chikushi, Mary Ann Handel, Tetsuo Kunieda

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)67-74
Number of pages8
JournalReproduction
Volume149
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

Fingerprint

Infertility
Mutation
Prophase
Spermatocytes
Genes
Testis
Seminiferous Epithelium
Phenotype
Nonsense Codon
Genetic Association Studies
Knockout Mice
Fingers
Fertility
Spermatozoa
Chromosomes
Alleles
Weights and Measures
Proteins

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Reproductive Medicine
  • Embryology
  • Endocrinology
  • Cell Biology

Cite this

Fujiwara, Y., Matsumoto, H., Akiyama, K., Srivastava, A., Chikushi, M., Handel, M. A., & Kunieda, T. (2015). An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. Reproduction, 149(1), 67-74. https://doi.org/10.1530/REP-14-0122

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 journalArticle

Fujiwara, Y, Matsumoto, H, Akiyama, K, Srivastava, A, Chikushi, M, Handel, MA & Kunieda, T 2015, 'An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility', Reproduction, vol. 149, no. 1, pp. 67-74. https://doi.org/10.1530/REP-14-0122
Fujiwara Y, Matsumoto H, Akiyama K, Srivastava A, Chikushi M, Handel MA et al. An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. Reproduction. 2015 Jan 1;149(1):67-74. https://doi.org/10.1530/REP-14-0122
Fujiwara, Yasuhiro ; Matsumoto, Hirokazu ; Akiyama, Kouyou ; Srivastava, Anuj ; Chikushi, Mizuho ; Handel, Mary Ann ; Kunieda, Tetsuo. / An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. In: Reproduction. 2015 ; Vol. 149, No. 1. pp. 67-74.
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