Sentences with phrase «in gene copy number»

In 2008, Wigler proposed that such cases, characterized by changes in gene copy number — duplicated or deleted genome segments that leave an individual with extra or missing copies of one or more genes — likely account for at least half of ASD cases.

Not exact matches

Lacking money to outfit the new lab, Wang and Xin bought used equipment: a single channel DNA sequencer (bought and barely touched by a Harvard Medical School researcher); second - hand centrifuges and pipettes; a reconditioned CytoScan HD system that detects variations in the number of copies of a gene.

They made these clones by a process called automatic parthenogenesis: The egg is formed normally (with half the species» usual number of chromosomes), then fertilized by the «polar body,» a cell that is created during oogenesis and contains the same gene copies as the egg, resulting in the shark having half the genetic variation of its mother.

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA.

Another is to change the number of expressed copies of a gene in each cell.

In a new study published in The Quarterly Review of Biology, Dr. Karen Hardy and her team bring together archaeological, anthropological, genetic, physiological and anatomical data to argue that carbohydrate consumption, particularly in the form of starch, was critical for the accelerated expansion of the human brain over the last million years, and coevolved both with copy number variation of the salivary amylase genes and controlled fire use for cookinIn a new study published in The Quarterly Review of Biology, Dr. Karen Hardy and her team bring together archaeological, anthropological, genetic, physiological and anatomical data to argue that carbohydrate consumption, particularly in the form of starch, was critical for the accelerated expansion of the human brain over the last million years, and coevolved both with copy number variation of the salivary amylase genes and controlled fire use for cookinin The Quarterly Review of Biology, Dr. Karen Hardy and her team bring together archaeological, anthropological, genetic, physiological and anatomical data to argue that carbohydrate consumption, particularly in the form of starch, was critical for the accelerated expansion of the human brain over the last million years, and coevolved both with copy number variation of the salivary amylase genes and controlled fire use for cookinin the form of starch, was critical for the accelerated expansion of the human brain over the last million years, and coevolved both with copy number variation of the salivary amylase genes and controlled fire use for cooking.

After enriching for CTCs, the researchers analyzed the samples for ALK rearrangements and for an increase in the number of copies of the ALK gene.

Among patients with non-small cell lung cancer (NSCLC) fueled by ALK gene alterations who were being treated with crizotinib (Xalkori), a decrease in the number of circulating tumor cells (CTCs) harboring increased copies of the ALK gene over the first two months of treatment was associated with increased progression - free survival.

The team integrated three, complementary gene sequencing approaches to look for mutations in tumor cells from SS patients: whole - genome sequencing in six subjects, sequencing of all protein - coding regions (exomes) in 66 subjects, and comparing variation in the number of copies of all genes across the genome in 80 subjects.

A strong, male - biased mutation spectrum was also measured, wherein three - quarters of mutations occurred in sperm thorough spermatogenesis, as well as new structural alterations, such as changes in gene conversion and copy number.

The researchers used an experimental technique — «droplet digital polymerase chain reaction» — to determine the number of copies of the genes that appear in these series.

«We saw frequent copy number changes, and gene expression changes in metastases that reflect a change in metabolism,» Siegel said.

Both the hunter - gatherers as well as the early farmers displayed high copy numbers of amylase genes in their genomes, suggesting that both populations had already adapted to a starch - rich diet.

Biotechnologist James Dale and colleagues at Queensland University of Technology in Brisbane, Australia, cloned a resistance gene named RGA2 from a type of wild banana that's impervious to TR4 and inserted it into the Cavendish, creating six lines with varying numbers of RGA2 copies.

They found that the number of copies of lncRNA genes on a chromosome consistently change in 12 different cancer types and lncRNA genes are widely expressed in cancer cells.

Using clinical, genetic, and gene expression data as filters to distinguish genes whose copy number alteration causes cancer from those for whom copy number changes are incidental, the team whittled down their list from 14,000 to a more manageable number, each of which they systematically tested using genetic experiments in animals.

By studying rare «copy number variations,» which are individual errant insertions or deletions of DNA segments (each of which occur in less than one percent of the population), researchers discovered a new cluster of genes that are affected in some autistic individuals as well as a number of mutations that were present in autistic children but not their parents.

Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to autism.

But the new study has underscored the variability in the copy number variants and genes that can be affected in autistic individuals.

Using postmortem human brain samples, the researchers found that variations in the number of copies of the C4 gene that people had, and the length of their gene, could predict how active the gene was in the brain.

BROCA detects all single base substitutions, insertions and deletions and copy number variants in all 24 genes implicated in breast cancer.

In this study, researchers assessed the outcomes of 280 prostate cancer (Cap) patients, and reviewed the DNA «fingerprints» of each patient's tumor (using the patient's initial diagnostic core biopsy) to determine if gene copy number alterations (CNAs), or breaks in CFSs, were related to a less positive response to treatmenIn this study, researchers assessed the outcomes of 280 prostate cancer (Cap) patients, and reviewed the DNA «fingerprints» of each patient's tumor (using the patient's initial diagnostic core biopsy) to determine if gene copy number alterations (CNAs), or breaks in CFSs, were related to a less positive response to treatmenin CFSs, were related to a less positive response to treatment.

American geneticist Calvin Bridges discovered copy number variation in 1936, when he noticed that flies that inherit a duplicate copy of a gene called Bar develop very small eyes.

The team also studied the copy number variations — genes that are not mutated but are amplified in the tumors to give them a growth advantage over normal tissues.

Two groups of researchers published the first genome - wide CNV maps, which illustrated that variation in gene quantity is actually quite common: each group found about 12 copy number imbalances per person.

Greenwold, graduate student Weier Bao and Sawyer analyzed the avian genomes and published an accompanying paper in BMC Evolutionary Biology that shows correlations between the number of beta - keratin gene copies and the birds» lifestyles.

And instead of just several types of brick, it turned out that there were dozens of smaller variations within each type of brick, represented by the many slightly differing copy numbers in the gene.

On January 9, a team, led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Boston, announced that it had found copy number variations — deletions of duplications of segments of genetic code that alter the number of copies of a gene a person carries — in 12 of 1,400 autism sufferers it was studying.

Both of the new studies found that copy number events involving either duplication or deletion of the 25 to 30 chromosome - 16 genes — several of which are known to play a role in the developing brain — appear to cause autism.

About the same time, scientists at Cold Spring Harbor Laboratory in Long Island, N.Y., focusing on families with one autistic child, reported that an estimated 10 to 30 percent of all reported cases of autism may be caused by new (or spontaneous) mutations in the number of copies of genes in children (that were not found in either parent).

The mice seem to develop normally when only one copy of the gene is removed, but microscopic inspection reveals a number of small «gaps,» or disorganized regions of tissue (on the scale of a few nanometers) on their aortas, the largest artery in their bodies.

CENTRAL COMMAND Scientists believe that sometime in the past 10 million years, paramecia abruptly spliced together two copies of their genome, doubling the number of genes.

The researchers also found that these copy number variants occurred more frequently in genes involved in the function of synapses, the connections between brain cells that transmit chemical messages.

Although none of the German Neolithic samples carries the copy number expansion of the AMY2B gene associated with starch digestion, we find that this gene is present in three copies in NGD, though this is due to a large segmental duplication that is shared with multiple modern dogs, an event separate from the tandem AMY2B duplications.

This murine model system offers a superior source of immortalized cell populations as many of the difficulties associated with the in vitro transfection process are eliminated (e.g., initial requirement for many cells, different sites of gene integration, multiple copy number; Ref.

The study for the first time estimates the minimum number of locations in the human genome — 250 to 300 — where gene copy number variation (CNV) can give rise to autism spectrum disorder (ASD).

The authors next took 997 tumors in the discovery set, integrated copy number and gene expression data, and performed clustering analyses to identify subgroups of tumors with distinct features and clinical outcomes.

In this study, the authors assessed the impact of SNPs, inherited copy number variants (CNVs), and acquired copy number alterations (CNAs) on the gene expression landscape.

The SPD genes, some of them known to mediate host - cell attachment, modification of host immunity and immune evasion, frequently presented copy number variations across strains or were found amplified in tandems forming gene arrays.

However, such CRISPR screens are sensitive to a phenomenon called the copy number effect, where genes that have been repeatedly duplicated within a cell (as commonly happens in cancer cells) can be flagged as essential regardless of whether they are or not.

In this study, Teitell and his team sought to determine copy number variants (CNVs), or differences in the numbers of certain genes, in two embryonic stem cell lineIn this study, Teitell and his team sought to determine copy number variants (CNVs), or differences in the numbers of certain genes, in two embryonic stem cell linein the numbers of certain genes, in two embryonic stem cell linein two embryonic stem cell lines.

The software, called DECoN, accurately and quickly detects changes in copy number of blocks of DNA called exons, by analysing sequencing data already generated to identify smaller gene changes.

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety of genetic aberrations, ranging from copy number variations to single gene mutations.

«Basically, this study shows that the genetic makeup of individual human embryonic stem cell lines is unique in the numbers of copies of certain genes that may control traits and things like disease susceptibility,» said Teitell, who also is an associate professor of pathology and laboratory medicine and a researcher at UCLA's Jonsson Comprehensive Cancer Center.

They showed that removal of the tails resulted in the retention of 1.4 to 7.8 times higher number of copies in four out of five colon - specific genes expressed at low levels after subtraction.

Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease genes and detected copy - number changes, ranging from whole - gene deletions and duplications to single - exon deletions and duplications, in 100 % of the cases.

Over the next few years genes from different bacterial (and eventually mammalian) species were cloned into plasmids and new cloning vectors such as pBR322, pACYC, and pUC were developed to provide higher copy number vectors that could be used in these cloning experiments.

We infer two key properties for each gene related to patterns of homology: first, the age of each gene based on the phylogenetic stratum in which each gene can be inferred to have originated; and second, the number of paralogous copies of each gene in the Nasonia genome.

Developing novel tools to quantify gene expression in single cells As it has become increasingly apparent that gene expression in individual cells deviates significantly from the average behavior of cell populations, new methods that provide accurate integer counts of mRNA copy numbers in individual cells are needed.