Words similar to skipping
Example sentences for: skipping
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al (1996) reported that the Myelodysplasia syndrome 1(MDS1) gene spliced into exon 2 of the adjacent Ecotropic viral integration site 1 (EVI1) gene, producing a unique transcript containing an ORF that produces a GATA-binding transcriptional activator [ 30 31 ] . The human Galactose-1-phosphate uridylytransferase (GALT) gene produces an intergenic transcript by skipping its last exon and splicing into exon 2 of Interleukin-11 receptor α-chain (IL-11Rα) [ 32 ] . This produces an intergenic transcript that keeps the endogenous frame of both genes, thereby coding for a theoretical protein with domains from both proteins.
For example, exon-skipping mutations in the central region of the gene, exons 24-32, cause severe phenotypes or neonatal presentations [ 8 ] . But there are exceptions, only four of the many other mutations in this region cause severe phenotypes, while one mutation predicted to lead to skipping of exon 24 was found in a patient with classic MFS [ 5 ] . In contrast, most cysteine substitutions cause classic MFS with a high frequency of lens dislocation, although some patients in our study did not meet the Ghent criteria for diagnosis of MFS [ 9 ] . Amino-acid substitutions not disrupting disulfide bonds may be associated with fibrillinopathies other than MFS, although mutations in the calcium-binding consensus sequence have been reported in individuals with classic MFS [ 5 10 11 12 ] . It is clear from the studies reported so far, that genotype-phenotype correlations are not straight-forward for FBN1 mutations.
As reported previously, the long RT-PCR method identified six samples with transcripts skipping exons 18, 31, 46, 49, 56 or 58 that were caused by nucleotide substitutions at splice sites [ 8 ] . In another patient, skipping of exon 51 was discovered to be due to a silent mutation within the exon, possibly affecting a splicing enhancer binding site [ 19 ] . Here we report abnormal fragments seen after Taq I digestion of the exon 29-52 amplicons (Fig.
Recently, it was suggested that NF1 exon skipping events could be explained by structural alterations in possible higher free-energy structures of the pre-mRNA at the donor site [ 19 ] . Here in, it was hypothesised that when an alternative structure is too different from the lowest free-energy structure (ground state) this sequence is not recognised by the splicing machinery and that, as a consequence, the corresponding exon becomes skipped.
The proteins are thought to participate in the processing mRNA precursors [ 33 ] , and they can influence splice site selection and promote exon skipping in vitro [ 57 58 59 ] . Consistent with a fundamental role in RNA metabolism, the human and mouse hnRNP A2 sequences are highly conserved with only one amino acid difference out of 341 residues.
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