The researchers also found evidence of extensive RNA editing, which allows the octopus to
alter protein sequences without changing underlying DNA code.
«The fact that the genetic code can simultaneously write two kinds of information means that many DNA changes that appear to
alter protein sequences may actually cause disease by disrupting gene control programs or even both mechanisms simultaneously,» said Stamatoyannopoulos.
Only 3 of 66 confirmed de novo mutations (3.6 %)
altered protein sequence.
On average, the authors 1,140 somatic mutations, including 154 that
altered protein sequence, and 12 somatic structural rearrangements.
The most common approach is to focus on protein - truncating variants or PTVs (sometimes also called loss - of - function variants *) that terminate or substantially
alter the protein sequence.
Not exact matches
The larger scale Cancer Genome Atlas study provided the information needed to
alter proteins or RNA
sequences that may act as «drivers» for prognostic biomarkers or therapeutic targets.
Its competitors — designer
proteins called zinc finger nucleases and TALENs — also precisely
alter chosen DNA
sequences, and several companies are already exploiting them for therapeutic purposes in clinical trials.
To prove that the UL6
protein sequence does in fact trigger the autoimmune attack of HSK, Cantor and his team have now infected mice with either normal HSV - 1 or a strain that they had genetically
altered to lack the UL6
protein.
DNA methylation and other epigenetic alterations — chemical changes to DNA that can
alter a gene's expression without affecting its
protein - coding
sequence — may underlie some of the lasting biochemical havoc, Ghanei says.
Synonymous single - nucleotide polymorphisms (SNPs) do not produce
altered coding
sequences, and therefore they are not expected to change the function of the
protein in which they occur.
But the
protein can also change the genetic
sequence of a normal cell,
altering the body's blueprint and making mutations that cause cancers.
Although the human and chimpanzee genomes are distinguished by 35 million differences in individual DNA «letters,» only about 50,000 of those differences
alter the
sequences of
proteins.
Since the methylation of cytosine does not
alter the DNA
sequence, but only influences when and where these
proteins are produced, it is considered an epigenetic modification.
Zoghbi's lab also found that this
altered ATXN1 gene
sequence encodes a bulky, improperly folded
protein that is toxic to brain cells.
Protein -
altering variants within 500 kb of 22 «index SNPs» uncovered in targeted
sequencing of GWAS loci
A significant proportion of SVs affect known
protein - coding genes by
altering coding
sequence or gene dose.
We used high - throughput
sequencing in families with multiple cases of IBD, followed by genotyping of cases and controls, to investigate whether rare
protein altering genetic variants are associated with susceptibility to IBD.
We estimate that 42 % of our cohort carry pathogenic DNMs in coding
sequences; approximately half of these DNMs disrupt gene function and the remainder result in
altered protein function.