Sentences with phrase «gene copy number variations»

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).

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.

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

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.

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.

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.

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.

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.

«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.

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.

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.

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.

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.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

386/11: 15 Clinical indexing genes affected by copy number variation in neurodevelopmental disorders.

In some species copy number variation (CNV) of target site loci (e.g. the Ace - 1 target site of carbamate insecticides) or detoxification genes has been implicated in the resistance phenotype.

However, being a complex multistep process, cancer cytogenetics are broadened to «cytogenomics,» with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases.

By characterizing the role of gene mutations and copy number variations in a number of complement associated disorders, including kidney diseases, such as HUS (Hemolytic Uremic Syndrome), DDD (Dense Deposit Disease) or AMD (Age Related Macular Degeneration) the group has identified new disease subtypes of this severe kidney diseases.

DLGAP2, the other gene listed in the accompanying graphic, has also been implicated in the development of autism in a copy number variation (CNV) analysis of people with ASD.