51 research outputs found
Levels of <i>Etv5</i> mRNA in postnatal day 3 testes (A), kidney (B) and spleen (C) in <i>Etv5<sup>sco/sco</sup></i> and wild-type (WT) mice.
<p>(D) ETV5 immunoblotting showed an absence of full length and truncated proteins in the mutant spleen. HPRT was used as a loading control. Levels of <i>Cxcr4</i> (E) and <i>Ccl9</i> (F) mRNAs in <i>Etv5<sup>sco/sco</sup></i> and WT postnatal day 3 testes. A–C, E–F, WT values were set as 100%. <i>n</i> = 3 mice per group, **p<0.01, ***p<0.001 (unpaired <i>t</i>-test, two-tailed).</p
Phenotypic defects observed in homozygous mice from the <i>Etv5</i> allelic series.
<p>n/a: not analysed due to embryonic lethality.</p
<i>Etv5</i> mutant (<i>Etv5<sup>sco/sco</sup></i>) males are sterile due to the progressive loss of germ cells.
<p>(A) Testis of 8 weeks-old <i>Etv5<sup>sco/sco</sup></i> and a wild-type (WT) littermate. (B) Testis weight to body weight ratio of <i>Etv5<sup>sco/sco</sup></i> mice compared to WT littermates. <i>n</i> = 12 per group. *p<0.05 (unpaired <i>t</i>-test, two-tailed). (C–F) PAS staining of 4–8 weeks-old testes of <i>Etv5<sup>sco/sco</sup></i> and WT mice.</p
The SCO mouse line carries a missense mutation within the <i>Etv5</i> gene.
<p>(A) Schematic of the mouse <i>Etv5</i> gene and the location of the identified mutation. Exon positions are based on the ENSMUST00000079601 transcript. (B) ETV5 protein and the location of the missense amino acid.</p
Incidence of developmental abnormalities in <i>Etv5<sup>sco/sco</sup></i> adult mice.
<p>Incidence of developmental abnormalities in <i>Etv5<sup>sco/sco</sup></i> adult mice.</p
RBM5 RRM2 is required for appropriate pre-mRNA splicing.
<p>(<b>A</b>) Relative abundance of <i>St5</i>, <i>Asb1</i> and <i>Plg2g10</i> is significantly increased in the RBM5 pulled down (RBM5-PD) samples compared to that of IgG-PD controls. Error bars = S.D. (standard deviation, <i>n</i> = 3 sets of each pull down). * indicates statistical significance (p<0.05, t-test). (<b>B–D</b>) The R263P mutation in the RRM2 of RBM5 leads to aberrant splicing of <i>St5</i>, <i>Asb1</i> and <i>Pla2g10</i>. Black bars represent exons and open bars represent UTRs. FL: full-length, ex: exon, Δ ex 3 refers to exon 3 skipping, Δ ex 3+ex 4 refers to exon 3 and exon 4 skipping, and + intron refers to intron retention. (<b>E</b>) Splicing defects of <i>Kif17</i>, <i>Anks3</i>, <i>Rangap1</i>, <i>Nfx1</i> and <i>Cftr</i>. Transcripts with obvious shift in their relative intensities are indicated by arrows.</p
RBM5 target mRNAs in round spermatids identified using RNA pull down coupled with microarrays.
<p>RBM5 target mRNAs in round spermatids identified using RNA pull down coupled with microarrays.</p
The <i>Rbm5<sup>sda/sda</sup></i> results in the substitution of an arginine for proline in the RBM5 RRM2.
<p>(<b>A</b>) Schematic of the mouse <i>Rbm5</i> gene. Black bars represent exons and open bars represent untranslated regions (UTRs). (<b>B</b>) Schematic of the mouse RBM5 protein. RS: arginine-serine domain; RRM: RNA recognition motif; ZF: zinc finger motif; OCRE: octamer repeat domain; G-patch: glycine patch domain, aa: amino acid (<b>C</b>) Sequence alignment of RRM2 from different species. (<b>D</b>) Cartoon representation of the RBM5 RRM2 structure as derived using NMR (PDBid: 2LKZ) <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003628#pgen.1003628-Song1" target="_blank">[11]</a>. Amino acid residues within the ß2–ß4 strands that have been shown to be perturbed by RNA binding are shown in black including R263 in the ß2-strand.</p
Levels of serum testosterone, FSH and LH in adult <i>Rbm5<sup>sda/sda</sup></i> and <i>Rbm5<sup>WT/WT</sup></i> mice.
<p>Data are expressed as mean±S.D. (standard deviation). <i>n</i> = 5 per group, age 10–14 weeks old. p values<0.05 were defined as being statistically significant (unpaired t-test, two-tailed).</p
Functional clustering of differentially expressed genes identified by microarray analysis of RNAs isolated from round spermatids of <i>Rbm5<sup>sda/sda</sup></i> and <i>Rbm5<sup>WT/WT</sup></i> postnatal day 28 testes.
a<p>Differentially expressed genes associated with a particular significant function are given.</p
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