Sentences with phrase «by the mutation code»

The team identified the gene affected by the mutation code for asparagine synthetase, the enzyme responsible for synthesizing the amino acid asparagine.

Not exact matches

It is caused by mutations on the ABCD1 gene, which codes for a membrane transporter protein.

We have tested this hypothesis by estimating genomic point mutation rates for protein - coding genes in a range of animal taxa.

Several mutations were found in genes coding the machinery that makes mitochondrial proteins, and so would probably hinder mitochondria's ability to make the chemical fuel called ATP, which is used by normal cells.

Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.

The rule is «use it or lose it,» and indeed, unused DNA code is eroded by constant mutation.

Bacteria can become resistant to the antibiotic either as the result of a spontaneous mutation or by picking up an appropriate «resistance gene» (which codes for a protein that confers resistance) from another bacterium via genetic exchange.

The new mutations were initially identified by sequencing the exomes (protein - coding portions of the genome) of three children with achromatopsia who receive their care at NYPH.

Thalassaemia is the world's most common genetic disease and is caused by mutations in one or both of the genes that code for haemoglobin.

They hope that by deciphering the DNA code found in blood samples, it should be possible to identify the particularly mutations likely to prove lethal to that patient — and tailor treatment accordingly.

Dr. Chung and her colleagues discovered the new mutations by sequencing the exomes (the portion of the genome that codes information to make proteins) of families with PAH without identified mutations.

As it turns out, the same mutations could have been found by sequencing only the protein - coding regions of the genome — called exome sequencing — for about $ 4000.

• Combining stem cells with gene therapy, an international collaboration announced the success of a pilot study to treat X-linked adrenoleukodystrophy (ALD), a fatal brain disease caused by a mutation of the gene coding for the ALD protein.

With over 20,000 known protein - coding genes, widespread genetic variation, and the continual accumulation of mutations in somatic tissues, there are plenty of candidates that will meet these criteria by chance alone.

«But we are hopeful that our technique, by treating the human genome like lines of computer code, could one day be used to reverse these harmful mutations, and essentially repair the damaged code.»

ALS can be caused by a mutation in a protein called SOD1, and the antisense drug effectively silences the gene that codes for this mutant protein — found in the cells of patients with inherited forms of ALS.

Derived by co-transfection of MT4 cells with PHXB2deltapro and PHXB2 proteinase coding region containing 2 mutations G → V at position 48, L → M at pos

Derived by co-transfection of MT4 cells with PHXB 2 delta pro and PHXB2 proteinase coding region containing a single G → V mutation at position 48.

By sequencing enough fragments (to obtain what genomicists refer to as depth coverage) we can statistically rule out which mutations are false and what DNA code is real — this means we sequence enough DNA to have many DNA fragments that align to the same region of the genome.

Not all of these differences affect traits — some mutations are silent or are not coded into proteins — these build up over time by a process called genetic drift, and are not acted on by evolutionary selection.

CS is caused by deleterious mutations in SLC9A6, an X-linked gene that codes for the endosomal Na + / H + exchanger 6 (NHE6), which is believed to be involved with circuit development [2, 3].

Copy number variation (CNV) is a common chromosomal alteration that can occur during in vitro cultivation of human cells and can be accompanied by the accumulation of mutations in coding region sequences.

«The contribution of de novo coding mutations to autism spectrum disorder» by Ivan Iossifov et al appears online in Nature on October 29, 2014.

It is caused by biallelic loss - of - function mutations in the gene COL7A1, which codes for the extracellular protein collagen VII.

Of the 2,477 somatic coding mutations with good coverage by both WGS and RNA - seq, 486 (20 %) showed showed allele - specific expression.

A dominant nuclear mutation in Chlamydomonas identifies a factor controlling chloroplast mRNA stability by acting on the coding region of the atpA transcript

By performing a meta - analysis of rare coding variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near - complete depletion of loss - of - function variants.

They did so by inserting mutations into the bacterial gene that codes for the enzyme, then subsequently selecting mutants that were particularly effective at clipping off the antigens.

She says this may be partially accounted for by the existence of regulatory mutations that, residing outside of protein - coding regions, escape detection by exome sequencing.

Not all of these differences affect traits — some mutations are silent or are not coded into proteins — these build up over time by a process called genetic drift, and are not acted on by evolutionary selection.

By sequencing enough fragments (to obtain what genomicists refer to as depth coverage) we can statistically rule out which mutations are false and what DNA code is real — this means we sequence enough DNA to have many DNA fragments that align to the same region of the genome.