Sentence examples for critical splice from inspiring English sources

A single silent C to T non-polymorphic nucleotide difference is responsible for disrupting a critical splice enhancer element in SMN2 exon 7 [12], [12].

The rationale of this analysis is that because mutations in critical splice sequences disrupt proper splicing and often lead to loss of gene function, introns create a sizeable target for mutation to null alleles (Lynch 2002).

This variant was a predicted critical splice donor mutation in the Areg gene (NM_009704:exon1 c.61+2T>G), and confirmed to be absent from CAST/EiJ, C3H/HeJ, and A/J inbred strains as established previously (Johnson et al., 2003).

We hypothesized that variants in 5 critical splicing factor-associated genes might play an important role in carcinogenesis of lung cancer.

Here we report that the SR protein B52/SRp55 controls a critical splicing event of eyeless pre-mRNA that changes the biochemical and physiological properties of the encoded protein isoforms.

The significantly reduced levels of diversity within critical splicing sequences (fig. 1) suggest that most newly arisen mutations at these sites are deleterious and removed by purifying selection.

Although aberrant epigenetic changes are frequently implicated in blood cancers, their direct role in suppressing one or both alleles of critical splicing factors has not been previously examined.

Because the introns of Phelipanche albumin 1 xenogenes maintain critical splicing sites and share the same starting positions and first nine base pairs with the known M. truncatula albumin 1 intron, it is likely that the HGT event in broomrapes involved transfer of a genomic sequence rather than a separate cDNA.

Under this scenario, the sole consequence of perturbing splicing arises when mutations in critical intronic splice sequences disrupt the splicing process, leading to the accumulation of splicing intermediates or improperly spliced transcripts (e.g., Parker and Guthrie 1985; Fouser and Friesen 1986).

Splicing mutations are traditionally considered those that affect essential nucleotides of the donor (GT) and the acceptor (AG) sites [ 13], although other intronic and exonic nucleotides are critical for splice site selection [ 14].

We performed extensive simulations using the ancestral selection graph (Neuhauser and Krone 1997) to derive quantitative estimates of the strength of purifying selection acting upon these critical intron splice sequences.