Sentences with phrase «chromosomal rearrangements»
"Chromosomal rearrangements" refer to changes that occur in the structure or arrangement of chromosomes. It means that sections of chromosomes have moved, deleted, or been duplicated, which can affect the functioning of genes and potentially lead to genetic disorders or health issues. Full definition
This image shows an example of chromosomal rearrangement involving the fusion of two chromosomes in M. persicae.
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Dr. Vasmatzis» research on the «Quantification of Somatic Chromosomal Rearrangements in Circulating Cell - free DNA From Ovarian Cancers» is published in the July 20 edition of Scientific Reports.
Interestingly, the observed chromosomal rearrangements involve more frequently the same chromosomes thus suggesting that the chromosomal architecture can make some rearrangements less random than others and some chromosomes more prone to change their structure than other ones.
The formation of CEB1 G - quadruplexes also stimulates gross chromosomal rearrangements.
5 % of BWS patients has p57KIP2 mutations and 1 % of BWS has balanced germline chromosomal rearrangements that disrupt the KvLQT1 gene.
«In mice infected with the malaria parasite, these so - called chromosomal rearrangements occur very frequently in GC lymphocytes,» says Robbiani, «and at least some of the changes are due to AID.»
Another effort is to identify genes involved in human development, known as DGAP (Developmental Genome Anatomy Project), which uses naturally occurring human chromosomal rearrangements in association with major congenital anomalies as the biological reagents for gene discovery.
WGS is the right tool to study these kinds of tumors because we know less about them: it will capture the full spectrum of mutations, from single base changes to large chromosomal rearrangements, in a single experiment.
The work «helps us to understand how chromosomes have changed over time, which chromosome rearrangements may have led to the formation of new species, and what might be driving chromosomal rearrangements,» says Janine Deakin, a geneticist at the University of Canberra who was not involved with the work.
Then she applied her expertise to humans, studying chromosomal rearrangements in leukemia cells.
The results support the hypothesis that alveolar rhabdomyosarcoma is driven by a single chromosomal rearrangement.
The finding, reported in the 6 March issue of Nature, is the first direct evidence that evolution can use chromosomal rearrangement to create new species.
Tipped off by a suspicious chromosomal rearrangement, researchers have identified a gene they believe causes Tourette syndrome when mutated.
In humans, neocentromerization is usually initiated by a significant chromosomal rearrangement, such as a translocation that produces an acentric fragment, but neocentromeres can also arise spontaneously in an intact karyotype within a single generation [23].
In order to answer this question, the biologists have studied an array of more than 500» 000 chromosomal rearrangements already characterized in a wide range of tumors.
Instead, he hopes to identify particular chromosomal rearrangements that occur frequently in intellectually impaired people.
He is using sensitive molecular probes to detect much smaller chromosomal rearrangements, equivalent to the loss of just a few words or phrases on a single page.
Thus, PHENOMIN - ICS resource is able to meet the needs of new models creation, from the punctual mutation to the big chromosomal rearrangement, as well as the needs in high - throughput or specialised phenotyping, for research teams either mouse specialists or not.
2) the nutrient energy - dependent polycombic ecological adaptations that link ecological variation to the physiology of pheromone - controlled reproduction in the context of autophagy and chromosomal rearrangements linked to all biodiversity via amino acid substitutions in cell types.
«In our research project on pediatric leukemia we plan to use Gemcode to define the exact chromosomal breakpoints of large scale chromosomal rearrangements and repetitive sequences that are typical for leukemic cells, but are difficult to characterize in short sequence reads,» said Professor Ann - Christine Syvänen, who leads the Molecular Medicine group.
Research Paper Constructing a «Chromonome» of Yellowtail (Seriola quinqueradiata) for Comparative Analysis of Chromosomal Rearrangements Junya Kawase, Jun - ya Aoki, Kazuo Araki J. Genomics 2018; 6: 9 - 19.
An overall theme of the Morton Laboratory is to apply evolving techniques in molecular cytogenetics to address problems in human cytogenetics, with interests including chromosomal rearrangements in constitutional and acquired cytogenetic disorders.
Characterization of balanced chromosomal rearrangements at the nucleotide level has led to translation of the methods into the clinic in the setting of prenatal diagnosis and to the development of a suggested next - gen cytogenetic nomenclature.
The work also showed that tumors with high chromosomal instability, which can lead to tumor cell diversity through chromosomal rearrangements, are least sensitive to these chemotherapies.
We have been searching for a mechanism that can explain the genetic cause of majority of BWS and that can provide better understanding of intragenic mutation of p57KIP2 and disruption of KvLQT1 gene by balanced germline chromosomal rearrangements.
This study showed the two subtypes have different genetic origins and involve a dramatically different number of chromosomal rearrangements, mutations and other gene variations.
Rather, it results from a chromosomal rearrangement, in which the structure of a chromosome — the scaffolding of genetic material — is altered.
These chromosomal rearrangements are a common cause of birth defects and cancer in humans.
Sanford's collaborator at UCLA, Dinesh Rao, was studying B - ALL cases involving chromosomal rearrangements of the mixed lineage leukemia (MLL) gene, which accounts for about 5 percent of B - ALL cases and is associated with poor prognosis and increased risk of early relapse after treatment.
«Scientists identify mutation that causes muffs and beards to grow on chickens: A chromosomal rearrangement increases HOXB8 expression in facial skin, affecting feather development.»
The growth of long facial feathers, creating the appearance of muffs and beards on chickens, is caused by a chromosomal rearrangement affecting a gene involved in feather development, report Xiaoxiang Hu of the China Agricultural University in Beijing and colleagues, in a new study published on June 2 in PLOS Genetics.
One likely explanation is that genes that have evolved separately, even without any chromosomal rearrangement, produce proteins incompatible with the proteins of other species, he says.
Our analyses show that these conflicts induce DNA breakdowns, chromosomal rearrangements and, therefore, mutations,» says Thanos Halazonetis.
This is likely true for two reasons; 1) there would not have been much time for a large number of chromosomal rearrangements to occur between these early ancestral human and mouse genomes, 2) and that since divergence with the boreoeutherian ancestor the human genome has undergone only a small number of chromosomal rearrangements meaning that many human telomeric regions are ancestral [58, 73].
This subgroup of AML is trickier than APL, where the product of the gene created by the chromosomal rearrangement directly blocks the cancer cells from becoming their normal type.
Forms of variation include single DNA base pair alterations, duplications or deletions of genes or sets of genes, and translocations, a chromosomal rearrangement in which a segment of genetic material from one chromosome becomes heritably linked to another chromosome.
Chromosomal rearrangements and the genomic distribution of gene - expression divergence in humans and chimpanzees.
The chromosomal rearrangement (an inversion) has resulted in a «supergene» comprising a block of about 90 genes.
The chromosomal rearrangement (an inversion) has -LSB-...]
Whole genome sequencing has now revealed that males with alternative reproductive strategies carry a chromosomal rearrangement that has been maintained as a balanced genetic polymorphism for about 4 million years.
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.
He started to make more detailed comparisons between human and dog cancers and discovered that, in nearly every case, the diseases in both species involved some of the very same kinds of chromosomal rearrangements.