Sentences with phrase «single nucleotide changes»

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.»

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 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.

Not exact matches

To generate the models, Jackson created two mutated versions of the PrP - coding gene by changing a single codon — one of the three - nucleotide «words» in genes that code for the various amino acids in proteins.

The research team's hunt for such age - related genetic associations involved studying more than 8 million single nucleotide polymorphisms — changes of one nucleotide for another at a particular spot in the DNA — in 2,693 individuals.

All three teams found sections of DNA — haplotypes — that differed and ultimately pinpointed a single - letter difference that changed the amino - acid content of complement factor H. HapMap researchers say that refining the map further will speed up such discoveries, and they plan to release a new version this month that will include 4 million single - nucleotide variants.

The team found that a mutation in a single pair of nucleotides in the gene causes seed coat permeability — that is, a change in one pair out of the approximately 1 billion base pairs that make up the soybean genome.

Their trouble with language had been caused by the change of a single nucleotide of DNA — just one letter in the genetic sequence.

In this case, the change is subtle: A single nucleotide called an adenine is replaced by another called a guanine on human chromosome 12.

When a Y chromosome is passed from father to son, the chance that a specific single nucleotide will change from, say, T (thymine) to A (adenine) is on the order of one in a few tens of millions.

Rather than measuring genetic changes directly (such as single nucleotide polymorphisms, otherwise known as SNPs), McKee and her group typically do RNA expression profiles on patients to see what genes are being expressed.

For the analyses, Thompson and his colleagues looked for single - letter (nucleotide base) changes in DNA that correspond to the sizes of key brain regions.

Although the blood disorder sickle - cell anemia was first described for medical science early in the 20th century, it was not until 1956 that researchers pinpointed its cause: a single change in a nucleotide in the gene that codes for the oxygen - carrying molecule hemoglobin.

In this example, changing a single DNA nucleotide from A to T creates the amino acid serine instead of the expected arginine.

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.

First, they pored through previously published genetic dragnets, looking for DNA changes in which a single building block, or nucleotide, is substituted for another.

Silent mutations occur when the change of a single DNA nucleotide within a protein - coding portion of a gene does not affect the sequence of amino acids that make up the gene's protein.

CRISPR / Cas9 and related tools can now be used in new ways, such as changing a single nucleotide base — a single letter in the genetic code — or adding a fluorescent protein to tag a spot in the DNA that scientists want to track.

The term «single - nucleotide polymorphism» (SNP) refers to a single base change in DNA sequence between two individuals.

The largest numbers of variants identified by genome - wide association are copy - number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms.

The system can change single RNA nucleotides in mammalian cells in a programmable and precise fashion.

A single disabling change — an alteration of one nucleotide — was found in the TRAPPC9 gene in all three girls.

The sequence data easily can be used to identify single nucleotide deletion, insertion, polymorphism and translocation and copy a number of changes on the DNA level.

In a proof of principle study, we found that a previously undescribed single nucleotide polymorphism in the binding domain of the erythrocyte binding like protein (EBL) conferred a dramatic change in red blood cell invasion in mutant rodent malaria parasites Plasmodium yoelii.

These modifications of the genome range from single - base changes (single - nucleotide variants) to insertions or deletions of a few bases (indels) to chromosomal rearrangements and occur during the whole life, starting from the first division of the embryo.

In addition to the large CNV mutations they had spotted earlier, they also found de novo changes in single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more complex.

In addition, a structural change of a single nucleotide unit can produce a corresponding change in the amino acid sequence of a protein molecule.