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).
The fact that the sizeable majority of mutations reduced slug distance supports the notion that slug migration distance being at least partially under direct selection in nature.
Thus, despite being constrained by its housekeeping function, NPC1 appears to retains a sizeable sequence space accessible to adaptive mutation.
Our results, although without accounting for BRCA1 and BRCA2 mutations, but on a sizeable sample (n=50) of unselected BC patients, are also in line with the finding of Rothfuß et al (2000) that the Comet assay has not revealed any difference between the in vitro-irradiated cells from four patients with BRCA1 mutation and those from four control subjects.
It must also be taken into consideration that while most tumours arising in BRCA1 mutation carriers have typical pathology, a sizeable minority do not.
Many of the mutations found so far show a dominant effect, but recessive mutations are likely to also contribute a sizeable fraction of cases [ 71, 92].
This SNP and the adjacent SNP, BovineHD18001676, accounted for a sizeable portion (2.49%%) of the genetic variation in direct calving difficulty in the Holstein-Friesian population, which suggested that an underlying causal mutation was located within this region.
If a pathogen evolves to block the antigen presentation/recognition pathway, individuals carrying mutations that allow them to evade this blockage will have a sizeable advantage to fight off the infection.
Standard DNA sequencing of sizeable gene regions in large study populations with the aim to identify the contribution of rare mutation is time-consuming and cost-intensive.
The "if", though, is sizeable.
The cost is sizeable too.
