Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

Asano, Yuka; Akiyama, Kouyou; Tsuji, Takehito; Takahashi, Sakino; Noguchi, Junko; Kunieda, Tetsuo

doi:10.1538/expanim.58.525

Cited by 6 publications

(4 citation statements)

References 28 publications

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“…All three proteins share a similar domain composition, although CG31755 contains a second TUDOR domain and CG11133 and CG31755 harbour a C‐terminal CS‐like domain (Figure 8A). The single vertebrate orthologue of these three proteins is the uncharacterized Tdrd12 protein (Tdrd12 likely corresponds to the repro23 locus; repro23 mutant mice are male sterile and resemble piRNA pathway mutants; Asano et al , 2009). The molecular role of Tdrd12‐family proteins is not known but data from follicle cells suggest that they might be the defining factors of Yb bodies and correspondingly nuage in the germline (Szakmary et al , 2009; Olivieri et al , 2010; Qi et al , 2010; Saito et al , 2010).…”

Section: Discussionmentioning

confidence: 99%

A systematic analysis ofDrosophilaTUDOR domain-containing proteins identifies Vreteno and the Tdrd12 family as essential primary piRNA pathway factors

et al. 2011

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PIWI proteins and their bound PIWI‐interacting RNAs (piRNAs) form the core of a gonad‐specific small RNA silencing pathway that protects the animal genome against the deleterious activity of transposable elements. Recent studies linked the piRNA pathway to TUDOR biology as TUDOR domains of various proteins bind symmetrically methylated Arginine residues in PIWI proteins. We systematically analysed the Drosophila TUDOR protein family and identified four previously not characterized TUDOR domain‐containing proteins (CG4771, CG14303, CG11133 and CG31755) as essential piRNA pathway factors. We characterized CG4771 (Vreteno) in detail and demonstrate a critical role for this protein in primary piRNA biogenesis. Vreteno physically and/or genetically interacts with the primary pathway components Piwi, Armitage, Yb and Zucchini. Vreteno also interacts with the Tdrd12 orthologues CG11133 (Brother of Yb) and CG31755 (Sister of Yb), which are essential for the primary piRNA pathway in the germline and probably replace the function of the related but soma‐specific factor Yb.

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Section: Discussionmentioning

confidence: 99%

A systematic analysis ofDrosophilaTUDOR domain-containing proteins identifies Vreteno and the Tdrd12 family as essential primary piRNA pathway factors

et al. 2011

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“…As part of recent forward genetic studies for linkage mapping, we generated F 1 /F 2 hybrid mice from matings between domesticusderived laboratory strains and the JF1/MsJ (JF1 mol ) strain, which was derived from the Mus musculus molossinus (hereafter molossinus) subspecies (Asano et al 2009;Khalaj et al 2014;Fujiwara et al 2015). We observed that the F 1 and F 2 hybrid males thus frequently produced spermatogenic abnormalities.…”

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confidence: 99%

Hybrid Sterility with Meiotic Metaphase Arrest in Intersubspecific Mouse Crosses

Nishino

Petri

Handel

et al. 2018

Journal of Heredity

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Although organisms belonging to different species and subspecies sometimes produce fertile offspring, a hallmark of the speciation process is reproductive isolation, characterized by hybrid sterility (HS) due to failure in gametogenesis. In mammals, HS is usually exhibited by males, the heterogametic sex. The phenotypic manifestations of HS are complex. The most frequently observed are abnormalities in both autosomal and sex chromosome interactions that are linked to meiotic prophase arrest or postmeiotic spermiogenesis aberrations and lead to defective or absent gametes. The aim of this study was to determine the HS phenotypes in intersubspecific F 1 mice produced by matings between Mus musculus molossinus-derived strains and diverse Mus musculus domesticus-inbred laboratory mouse strains. Most of these crosses produced fertile F 1 offspring. However, when female BALB/cJ (domesticus) mice were mated to male JF1/MsJ (molossinus) mice, the (BALB dom xJF1 mol )F 1 males were sterile, whereas the (JF1 mol xBALB dom )F 1 males produced by the reciprocal crossings were fertile; thus the sterility phenotype was asymmetric. The sterile (BALB dom xJF1 mol ) F 1 males exhibited a high rate of meiotic metaphase arrest with misaligned chromosomes, probably related to a high frequency of XY dissociation. Intriguingly, in the sterile (BALB dom xJF1 mol )F 1 males we observed aberrant allelespecific expression of several meiotic genes, that play critical roles in important meiotic events including chromosome pairing. Together, these observations of an asymmetrical HS phenotype in intersubspecific F 1 males, probably owing to meiotic defects in the meiotic behavior of the XY chromosomes pair and possibly also transcriptional misregulation of meiotic genes, provide new models and directions for understanding speciation mechanisms in mammals.

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“…3A). The homozygous repro23 mutant mice display male infertility (21). The male specific infertility of repro23 mutant mice suggests a potential role for TDRD12 in mouse spermatogenesis.…”

Section: Tdrd12mentioning

confidence: 99%

Tudor domain containing 12 (TDRD12) is essential for secondary PIWI interacting RNA biogenesis in mice

Pandey

Tokuzawa

Yang

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

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Significance Large parts of eukaryotic genomes are composed of transposons. Mammalian genomes use DNA methylation to silence these genomic parasites. A class of small RNAs called Piwi-interacting RNAs (piRNAs) is used to specifically guide the DNA methylation machinery to the transposon DNA elements. How germ cells make piRNAs is not entirely understood. We identify a mouse protein and demonstrate its importance for transposon silencing. We find that the protein collaborates with other factors already implicated in piRNA production. Moreover, the protein is required for piRNA production and assembly of the nuclear silencing complex. Physiological importance of the protein is highlighted by the fact that male mice lacking the protein are infertile. This study will greatly benefit the field of germ-cell biology.

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Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

Cited by 6 publications

References 28 publications

A systematic analysis ofDrosophilaTUDOR domain-containing proteins identifies Vreteno and the Tdrd12 family as essential primary piRNA pathway factors

A systematic analysis ofDrosophilaTUDOR domain-containing proteins identifies Vreteno and the Tdrd12 family as essential primary piRNA pathway factors

Hybrid Sterility with Meiotic Metaphase Arrest in Intersubspecific Mouse Crosses

Tudor domain containing 12 (TDRD12) is essential for secondary PIWI interacting RNA biogenesis in mice

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