The CFTR gene was cloned 26 years ago and it encodes a chloride channel that is primarily expressed in epithelial cells [ 5]. Almost 2000 disease-causing mutations have been identified in people with cystic fibrosis to date, but a much smaller number of mutations account for the vast majority of cases [ 9, 10].
The GHR-KO mutation was associated with much smaller transcriptional effects than mutations carried by Snell, Ames and Little mice.
This situation is in stark contrast with the result with a diploid, sexual model that assumes no recombination and weak dominance, which shows that the number of fixed mutations is much smaller than the number of segregating mutations (Charlesworth et al. 1993).
Short indels made up a much smaller fraction of the mutations that were fixed (17.4%), but we found evidence of strong selection against indels that caused frameshift mutations in coding regions.
A much smaller number of rare mutations of moderate or large effect have been identified, but these will be particularly important in facilitating dissection of the risk phenotype in model systems (7).
To further explore the possibility that virion-strand specific mutation biases are a feature of geminivirus evolution in general, we determined with greater precision than has been previously achieved with much smaller data sets the nucleotide mutation spectra of MSV (a mastrevrius), and TYLCV (a begomovirus).
Advocates for whole-genome sequencing argue that their approach picks up all kinds and sizes of mutations, including much smaller additions and deletions of code, than are detected in other forms of sequencing.
In acute myeloid leukaemia (AML), KIT is expressed in at least two-thirds of cases, although the number with C-KIT mutations is much smaller.
Therefore, the spliceosomal core is likely much smaller than we expect, since mutations in introns and increases in gene expression levels can compensate for decreased splicing levels.
The first are populations where the product of population size and mutation rate is much smaller than one.
