Sentences with phrase «rrna gene copy numbers»

The TGen team performed deep genomic profiling, integrating gene copy number, gene expression and DNA methylation datasets on a collection of 35 breast - brain metastases samples.

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 treatment.

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).

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.

Quantitative PCR analysis of 16S rRNA gene copy numbers.

About 90 % of solid tumors display whole - chromosome aneuploidy, while many tumors with diploid karyotypes nonetheless harbor segmental or arm - length aneuploidies that also result in significant gene copy number alterations.

High gene copy number variation (CNV) among membrane - bound transporters, a class of proteins previously implicated in drug resistance, was found for the most highly differentially expressed genes.

38) Yamamoto H, Shigematsu H, Nomura M, Lockwood WW, Sato M, Okumura N, Soh J, Suzuki M, Wistuba II, Fong KM, Lee H, Toyooka S, Date H, Lam WL, Minna JD, Gazdar AF (2008) PIK3CA mutations and gene copy number in human lung cancers.

How many human Mendelian and complex traits are due to structural changes and / or gene copy number variation (CNV)?

Not exact matches

For a very small number of genes, though, people inherit only one working copy; the other copy is turned off, forever silenced.

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 cooking.

The number of copies of the resistance gene varies among cultivars; a new method, developed by University of Illinois researchers, is able to efficiently quantify this variation for the first time.

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.

Those results are the same if the enhancers are intact but both copies of the gene itself are defective, indicating that the amount of protein determines the number of digits.

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.

Researchers will also need to start drilling deeper to study individual copy number variations and disrupted genes to understand how they might lead to autism, she notes.

Such revisions can change the number of copies of a gene or piece of regulatory DNA or jam two genes together, changing the genes «products or shutting them down.

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

«The lines drawn between different disorders are not related to the genes that predispose to the disorders,» Cantor notes, explaining that two children can present very similar behavioral patterns but have vastly different sets of copy number variations — and vice versa.

If a copy number variation disrupts certain genes, it is more likely to lead to autism.

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.

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.

They found that 10 per cent of these children have copy number variations (CNVs) affecting genes deemed clinically relevant.

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.

Rather gene dosage, which depends on the number of chromosome copies, is responsible for this: «If the chromosome is multiplied, then more copies of the same gene will be transcribed.

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.

Some research teams over the past five years have used microarray or gene - chip technology to compare genomes and quickly scan them for variations of copy numbers on each chromosome.

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.

The project will also catalog genes that are sometimes lost or duplicated — such copy - number variants can cause disease.

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.