Sentences with phrase «single nucleotide change»

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.

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.

«Even a single nucleotide change can have a huge impact.»

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.

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.

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.

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 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.

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.

In cancer, most of the well - characterized somatic mutations are single nucleotide changes as well.