The antibody to N-terminal amino acids 740 1013 of mouse RBM44 was used in Figures 8 and 9 to confirm that our mutation generated a null mutation.
The E1373X mutation generated a PCR product of 120bp, the normal allele does not yield any PCR product.
It appears that encoding the stop codon could be the only role of exon 9 as several mammalian species lack this last exon because a mutation generated a stop codon at the extremity of exon 8 [ 17].
Although the T→E mutation generated a negative charge at aa205, which is similar to what a phosphor group does after phosphorylation, Pin1 isomerase does not interact with EP motif and could not perform the cis-trans conversions.
This mutation generated a dysfunctional protein that exerted dominant-negative effects versus wild-type Brg1 on transcription in yeast [ 19] and in cultured mammalian cell lines [ 13, 14, 17, 18, 43].
Our study showed that the c.4571delG mutation generated a truncated SBF2 protein, which may disrupt the soluble and membrane-associated protein complex formed by SBF2 and MTMR2, leading to defects in PI(3 P and PI 3,5 P2 regulation.
Among the 44 nonsynonymous mutations, when we focused on CMS-G totalizing 23 nonsynonymous mutations, one mutation generated a premature stop codon in exon2 of cox2, whereas one mutation modified the stop codon of nad9, resulting in a longer coding sequence of 42 bp, as previously described by our team (Ducos et al. 2001).
In the latter case, a silent mutation generating a novel SacII restriction site was identified in silico within codon 52 of phoQ using WatCut (http://watcut.uwaterloo.ca/) and the oligo sequences were modified accordingly [9] (Table 1, Fig. 3A).
The lin-28 lf) lin-28 lfgenerates a precocious phenotype without the L2-specific symutationdivision; whereas, the lin-28(generatesion generates a retarded precociouswith further L2-like reiterations.
