Sentences with phrase «nucleotide changes»
The phrase "nucleotide changes" refers to alterations or modifications that occur in the building blocks of DNA or RNA. Nucleotides are the individual units that make up DNA and RNA molecules, and changes in these units can affect the genetic information contained in the molecule. These changes can have various consequences, ranging from harmless to significant impacts on organisms and their traits. Full definition
Alpha -1-antitrypsin deficiency (A1ATD) is the most common genetic disease of the liver, and is caused by a single nucleotide change in the gene that codes for alpha -1-antitrypsin (A1AT), an enzyme inhibitor that normally protects bodily tissues.
scientificamerican.com
Further analysis of this chromosomal region revealed a single nucleotide change in the ITGA10 gene, which disrupts the gene by introducing signal that prematurely ends the production of the encoded integrin subunit.
A gene is considered to have undergone positive selection when it has a relatively high ratio of nucleotide changes that lead to a change in the amino acid sequence of the corresponding protein, compared to changes that make no difference.
Further study showed that the region of human DNA that contained the single nucleotide change associated with blondness specifically affected the expression of KITLG only in hair follicles.
The sequence data generated from RNA in transcriptome - wide analysis could easily be used to identify transcript copy number variation between samples, splicing variants, single nucleotide change by RNA editing and discovery for all transcribed non-coding RNA transcriptome - wide.
In cancer, most of the well - characterized somatic mutations are single nucleotide changes as well.
The researchers began by confirming that the mouse mutation occurs in a region that is similar, or homologous, to where the single nucleotide change occurs in humans.
One was the fact that the adenine - to - guanine nucleotide change had been previously associated with blond hair color in Northern Europeans in genome - wide association studies.
The vast majority of them have the same identical nucleotide change.
Imagine the consequences if some of those piddly nucleotide changes arose in a protein that happened to be a transcription factor: Suddenly, instead of activating 23 different genes, the protein might charge up 21 or 25 of them — or it might turn on the usual 23 but in different ratios than normal.
First, Dr. Shendure described some interesting experiments under way in his lab to elucidate the function of non-coding regulatory variants — specifically, single nucleotide changes in the core promoter that alter gene transcription.
The assembly and analysis of human tumor cell genomes, many of which contain chromosome deletions, duplications and insertions, as well as single nucleotide changes, requires immense data storage capacity and high - speed computation.
«Even a single nucleotide change can have a huge impact.»
Though most cancers seem to require telomerase to become immortal, only some 10 to 20 percent of cancers are known to have a single - nucleotide change in the promoter upstream of the telomerase gene.
Finally, the researchers replaced the mouse mutation with human sequences with and without the blond - associated nucleotide change.
However, if repair material is provided (in the form of an oligonucleotide or plasmid), precise changes can be made in the genome via the homology directed repair pathway (HDR), be it a single nucleotide change, insertion of a reporter gene, or replacement of the murine sequence with a human gene.
The C to A nucleotide change in exon 3 of A / J (SNP rs29358506) mice causes a nonconservative amino acid change, from histidine (H) to asparagine (N) at position 55 of the protein (H55N).
SMN2 differs from the normal, functioning version of SMN1 by just a single nucleotide change: in SMN2, the sixth letter of the gene's seventh coding region, known as exon 7, is a T rather than a C.