Genomic rearrangements chromosome mapping. Medical search. Frequent questions

A high-resolution recombination map of the human genome. (nature.com)
Due to high fragmentation of the publicly available eggplant genome sequence, physical localization of most eggplant QTL was not possible, thus, we compared the organization of the eggplant genetic map with the genome sequence of both tomato and pepper. (nih.gov)
In order to perform the assessment of eggplant and pepper QTL orthology, the eggplant and pepper sequence-based markers located in their respective genetic map were aligned onto the pepper genome. (nih.gov)
Our results highlight that the availability of genome sequences for an increasing number of crop species and the development of "ultra-dense" physical maps provide new and key tools for detailed syntenic and orthology studies between related plant species. (nih.gov)
As CFSs often appear as hot spots for gross chromosomal rearrangements in cancer cells, it is of high clinical relevance to map CFSs genome-wide for better understanding of complex aberrant karyotypes and to predict their clinical prognosis. (uniklinikum-jena.de)
A new approach has become available recently to standardize this mapping to a high throughput and high resolution Next Generation Sequencing (NGS)-based genome-wide application2. (uniklinikum-jena.de)
In this study, we sequenced the genomes of two field specimens from each of the two subtypes and conducted a comparative genomic analysis of the obtained sequences with those from the only fully sequenced Cryptosporidium parvum genome. (cdc.gov)
Chowdhary BP, Raudsepp T, Kata SR, Goh G, Millon LV, et al: The first-generation whole-genome radiation hybrid map in the horse identifies conserved segments in human and mouse genomes. (karger.com)
In the post genome era, biological research and genomic medicine have been transformed by high-throughput technologies. (brown.edu)
Cancer is driven by somatic changes in the genome, which can range from small nucleotide substitutions to chromosome-scale rearrangements. (nih.gov)
Until recently, it was difficult to study chromosomal architecture using traditional short-read sequencing because of the mapping ambiguity and the limitations of a single reference genome. (nih.gov)
We have developed Ragout that infers structural rearrangements between the multiple input references and reconstructs the most probable architecture of a target genome. (nih.gov)
We used Ragout to produce chromosome assemblies of multiple mice genomes , which gave insights into rodent genome evolution and novel functional loci. (nih.gov)
We reveal the mosaic structure of the oat genome, trace large-scale genomic reorganizations in the polyploidization history of oat and illustrate a breeding barrier associated with the genome architecture of oat. (nature.com)
In each family, an extra copy of the gene was created by a large structural change in the genome-a rearrangement-that occurred once and was passed down to future generations. (technologynetworks.com)
To survey the structural changes in the genome, the researchers used a technique called array comparative genomic hybridization (CGH), which revealed a different genomic rearrangement in each of the four families. (technologynetworks.com)
Comparative genomic approaches using whole-genome datasets allow for discoveries at every scale: from genome to chromosome to organism to entire clades of organisms. (biorxiv.org)
Genomic datasets for non-model marine teleost fishes, the most diverse clade of vertebrates, are invaluable for investigating evolutionary questions relating to adaptation, selection, genome duplication, and phylogenetic conservatism in vertebrates. (biorxiv.org)
A high-quality genome thus allows for the inference of demographic history, genomic signals of selection and adaption, and comparative genomic studies with other Carangoid fishes, such as hybridization with the closely related bluefin trevally, Caranx melampygus 11 . (biorxiv.org)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
View the service pricing schedule for more information about Optical Genome Mapping pricing. (mdanderson.org)
Bionano Optical Genome Mapping directly observes structural variations by linearizing and imaging DNA in its native state using massively parallel Nano-Channels. (mdanderson.org)
2007). The authors' findings also showcase the recent conceptual and technical improvements of chromosome executive in the mouse genome. (forgetmenotinitiative.org)
2005). Finally, the Mutagenic Insertion and Chromosome Anatomist Reference (MICER), a collection of ready-made concentrating on vectors spread through the entire mouse genome, is currently obtainable (Adams et al. (forgetmenotinitiative.org)
Mesopolyploid whole-genome duplication (WGD) was revealed in the ancestry of Australian Brassicaceae species with diploid-like chromosome numbers (n = 4 to 6). (plantcytogenomics.org)
Our results underline the significance of multiple rounds of WGD in the angiosperm genome evolution and demonstrate that chromosome number per se is not a reliable indicator of ploidy level. (plantcytogenomics.org)
We also present an in silico analysis of the genomic structure of NBC4 and evaluate conserved paralogous clustering of SLC4A genes with the members of the ankyrin, epidermal growth factor (EGF), and fibroblast growth factor (FGF) gene families in the human genome. (biomedcentral.com)
To facilitate these comparisons, we examined the genomic synteny patterns of key candidate genes in the other model teleost fishes that have experienced three whole-genome duplication (3R) events which preceded a fourth (4R) whole genome duplication event common to all salmonid species. (biomedcentral.com)
Synteny maps also suggest that the Atlantic salmon genome contains three larger syntenic combinations of candidate genes that are not evident in any of the other 2R, 3R, or 4R genomes examined. (biomedcentral.com)
It is useful for finding syntenic regions, possibly orthologs, and for studying genome rearrangement. (ucsc.edu)
This is due both to the relative paucity of whole genome sequencing data which is required for SV analysis, but also the fact that genomic rearrangements have significant diversity and in many cases a high degree of complexity with individual events involving multiple or even up to hundreds of breaks [ 3 , 4 ]. (biorxiv.org)
Long-read nanopore sequencing with the MinION device (Oxford Nanopore Technologies, https://nanoporetech.com ) can resolve repetitive sequences and structural genomic rearrangements and enables complete bacterial genome finishing ( 9 ). (cdc.gov)
GENOMICS 1, 103-106 (1987) EDITORIAL Toward a Complete Map of the Human Genome There are many ways to portray the linear organi- zation of the elements of the chromosomes. (nih.gov)
In gen- eral, the human genome can be represented in physi- cal maps or in genetic maps. (nih.gov)
Other compli- cations in relating the genetic map to the physical map are (1) the occurrence of recombination "hot- spots," i.e., inhomogeneity in the distribution of crossovers, and (2) differences in the frequency of crossingover in males and females, this being greater in females in most but not all parts of the genome. (nih.gov)
The latter variation can be used to create a reference map of the human genome which for maxi- mal usefulness might have a RFLP marker located each 1 cM, on the average. (nih.gov)
The mouse has been an essential animal model for studies in hearing loss, and advances in mouse genetics, including genome sequence and high density single-nucleotide polymorphism (SNP) maps, provide a suitable system for the study of a complex trait such as NIHL [ 6 ]. (prolekarniky.cz)
His laboratory has assessed the functional impact of genome structural changes, such as CNVs and balance rearrangements. (agbt.org)
We used the method to determine the decline in global DNA methylation in a chronic lymphocytic leukemia patient and then performed whole-genome methylation mapping of the model plant Arabidopsis thaliana. (salk.edu)
Our genome maps show high concordance with published bisulfite sequencing methylation maps. (salk.edu)
Genetic linkage mapping has proven to be very useful for analyzing quantitative trait loci (QTL), tagging and cloning genes controlling desirable agronomic traits and studying genome organization and evolution. (biomedcentral.com)
Probe map details based on UCSC Genome Browser GRCh37/hg19. (metasystems-probes.com)
However, this increase in genome resolution came at a cost of spatial resolution, because the DNA sequence reads were mapped back to the chromosomal genome map derived from normal cells (see Box 1). (silverchair.com)

The difference in MRS size can be shown by digestion of genomic DNA with XhoI, which does not cut in the MRS, then probing a Southern blot of the resulting digest with sequences adjacent to the HOK and RB2 subunits of a specific MRS. If the MRSs are of different sizes, two correspondingly different sized bands will light up. (medscape.com)
Using cloned sequences, fragments were assigned to specific chromosomes. (medscape.com)
In all rearrangements, we characterized their exact extent and breakpoint sequences. (biomedcentral.com)
The interspecific comparative genomic hybridization (CGH) experiment revealed that the Furnariidae species investigated carry centromeric regions enriched in similar repetitive sequences, bolstering the Furnariidae family's karyotype conservation. (bvsalud.org)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)
This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (nih.gov)
The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing. (ox.ac.uk)
This said, DNA recombineering eliminates many of the constraints of getting unique restriction enzyme sites in genomic DNA sequences (Liu et al. (forgetmenotinitiative.org)
2003). Also, an Sv129 bacterial artificial chromosome (BAC) library generated from Abdominal2.2 Ha sido cells helps it be easier to get huge genomic sequences as well as focus on Ha sido cells directly 1346704-33-3 with loxP-containing BACs (Liu et al. (forgetmenotinitiative.org)
We argue that, while in E. coli the gradient of DNA thermodynamic stability and gene order along the origin-to-terminus axis represent major organizational features orchestrating temporal gene expression, the genomic sequence organization of Dickeya is more complex, demonstrating extended chromosomal domains of thermodynamically distinct DNA sequences eliciting specific transcriptional responses to various kinds of stress encountered during pathogenic growth. (mdpi.com)
During an anthrax emergency, rapid genomic characterization of the implicated B. anthracis strain(s) could identify sequences associated with drug resistance. (cdc.gov)

The Alu sequence is approximately 300 bp in length and is found commonly in intron s, 3′ untranslated regions of genes, and intergenic genomic regions. (nih.gov)
We have undertaken the first sequence-level structural map of an entire flow-isolated cancer-associated NC. (sarcomahelp.org)
Major sequence differences among the four specimens sequenced in this study were in the 5′ and 3′ ends of chromosome 6 and the gp60 region, largely the result of genetic recombination. (cdc.gov)
The sequence similarity among specimens of the two dominant outbreak subtypes and genetic recombination in chromosome 6, especially around the putative virulence determinant gp60 region, suggest that genetic recombination plays a potential role in the emergence of hyper-transmissible C. hominis subtypes. (cdc.gov)
Examination of the strain of C. dubliniensis for which the genomic sequence was determined, CD36, showed that although the sequence mapped with a high degree of accuracy on a karyotype like the standard C. albicans one, the actual strain had several translocations. (medscape.com)
Since the sequence revealed no places where unique DNA from two chromosomes appeared to be joined, and the SfiI maps of the two species are quite similar, translocations appear to occur at MRS regions in this species as well. (medscape.com)
Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements. (biomedcentral.com)
Even with the latest breakthroughs in DNA sequencing technologies, it is impossible to read the complete genomic sequence from the beginning to the end. (nih.gov)
We produced a chromosome-scale reference sequence of oat cv. (nature.com)
Megabase size molecules of genomic DNA are isolated and labelled at a specific 6 or 7 base pair sequence motifs. (mdanderson.org)
In this article, we explore the relationship between genomic sequence organization and transcription in the commensal bacterium Escherichia coli and the plant pathogen Dickeya. (mdpi.com)
SLC4A9 was initially discovered by genomic sequence annotation and further characterized by sequencing of long-insert cDNA library clones. (biomedcentral.com)
We annotated all draft and finished genomic sequence from this region using SeqHelp [ 12 ]. (biomedcentral.com)
Presubmission contig h174.3 of bacterial artificial chromosome (EAC) clone CTC-329D1 (now GenBank AC008438) included four regions of high translated sequence similarity with known mammalian NBCs. (biomedcentral.com)
The assembled cDNA sequence matched an NBC-like portion of 329D1 and additional new sequence elsewhere on the genomic contig. (biomedcentral.com)
The nucleotide sequence is the ultimate physical map. (nih.gov)

These include genomic instability, chromothripsis, and rearrangements such as the translocations characteristic of certain leukemias and sarcomas. (sarcomahelp.org)
The resulting synteny map confirmed the 14 inversions and 10 translocations previously documented, but also highlighted 3 new translocations and 4 major new inversions. (nih.gov)
The eggplant/pepper syntenic map confirmed 10 translocations and 8 inversions already detected and suggested a putative new translocation. (nih.gov)
Analysis of the MRS location by restriction digestion and hybridization with chromosome-specific probes as described earlier, showed that both strains had reciprocal 4,7 translocations, although different MRSs were involved in the two strains (both chromosomes have two MRSs). (medscape.com)
We used chromosomal translocations and Ig heavy chain (IGH)/T cell antigen receptor (TCR) rearrangements to develop an understanding of the etiology and natural history of this subtype of leukemia. (nih.gov)
Unequal reciprocal translocations with or without preceeding pericentric inversions and purported end-to-end chromosome fusions accompanied by inactivation and/or loss of centromeres are hypothesized to be the main pathways for the observed chromosome number reduction. (plantcytogenomics.org)
Synteny analyses indicate that frequent intra-chromosomal rearrangements but no translocations among chromosomes accompany the high rates of recombination during the independent evolution of the three major honey bee lineages. (kmutt.ac.th)
The most frequent primary abnormalities in multiple myeloma (MM) are trisomies of odd-numbered chromosomes or translocations involving the immunglobulin heavy chain (IGH) gene locus. (metasystems-probes.com)

At least 1200 expressed genes have been placed on the physical map, i.e., assigned to specific chromosomes and in many instances to spe- cific bands. (nih.gov)

We have hypothesized that large genomic rearrangements of TCF2 that are missed by conventional screening methods may account for this observation. (nih.gov)
In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. (biomedcentral.com)
DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). (biomedcentral.com)
In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. (biomedcentral.com)

14. A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia. (nih.gov)
Identifying genes on each chromosome is an active area of genetic research. (nih.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (nih.gov)
Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (nih.gov)
Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes. (babraham.ac.uk)
Recent studies strongly suggest that in bacteria, both the genomic pattern of DNA thermodynamic stability and the order of genes along the chromosomal origin-to-terminus axis are highly conserved and that this spatial organization plays a crucial role in coordinating genomic transcription. (mdpi.com)
Candidate genes often occur in pairs on chromosomes, and synteny patterns indicate these pairs are generally conserved in 2R, 3R, and 4R genomes. (biomedcentral.com)
this can be related to the band map and expressed genes can be related to contigs. (nih.gov)
Like the map of expressed genes, the individual RFLP markers and the RFLP map as a whole can be related to the band map by somatic cell hybridization and in situ hybridization, and to the contig map, as well. (nih.gov)
While the structural variation (SV) rate was relatively low overall, a disproportionally high rate of break-ends at chr 7 was noted involving 6 in-frame rearrangement fusion genes. (frontiersin.org)
His team demonstrated that expression levels of genes within CNVs tend to correlate with copy number changes, and that structural changes influence the expression of genes in their vicinity - an effect that may extends over the entire length of the affected chromosome. (agbt.org)
His laboratory participated in disentangling the natural history of the 16p11.2 rearrangements, i.e. their evolution, associated phenotypes and identification of major driver genes. (agbt.org)
The markers tightly linked with the genes for different glucosinolate components will be used for marker-assisted selection and map-based cloning. (biomedcentral.com)
The consequence of these rearrangements is the dysregulation of genes juxtaposed to transcriptional enhancers in the IGH locus. (metasystems-probes.com)

Theories to explain this unusual phenomenon include genomic rearrangements and methylation changes associated with a local block of reactivation of the X chromosome. (elsevierpure.com)

In order to identify and compare the genomic profiles, we analyzed array-based comparative genomic hybridization (array-CGH) profiles of 66 liposarcomas, including well-differentiated (WDLPS), dedifferentiated (DDLPS) and myxoid (MLPS) subtypes. (biomedcentral.com)

The DDLPS-associated losses were much more common in tumors with increased genomic complexity. (biomedcentral.com)
Our findings show that the application of array-CGH allows to delineate clearly the genomic profiles of WDLPS, DDLPS and MLPS that reflect biological differences between these tumors. (biomedcentral.com)
Although CNAs varied widely, the subtypes of tumors have characteristic genomic profiles that could facilitate the differential diagnosis of LPS subtypes, especially between WDLPS and DDLPS. (biomedcentral.com)
Copy number alteration (CNA) and structural variation (SV) are two of the key classes of somatic mutations in cancer with approximately 90% of tumors undergoing significant rearrangement [ 1 ]. (biorxiv.org)
Genomes in malignant tumors often house sections of chromosomes that are deleted, duplicated or fused together. (agbt.org)

Their genomes differ in size, but each has 12 chromosomes which have undergone rearrangements causing a redistribution of loci. (nih.gov)
An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)
First documented in the 1960s as double minute chromatin bodies [ 1 ] and then elegantly studied in the late 1970s and early 1980s [ 2-6 ] these extrachromosomal DNA structures were of keen interest, but were overshadowed by advances in molecular biology and powerful genomic technologies that permitted more exquisitely detailed mapping of genomes, including tumor genomes. (silverchair.com)

Early on, several groups found that although many isolates of this fungus have eight pairs of homologous chromosomes and, on a pulse-field electrophoresis separation, give eight bands, band numbers ranging as high as 12 were observed as more strains were analyzed. (medscape.com)
Depending on the variation in the RPS number, the two homologs of a single chromosome may differ by as many as tens-of-thousands of base pairs. (medscape.com)
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (nih.gov)
Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (nih.gov)
Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. (nih.gov)
Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. (nih.gov)
The four, five, and six fusion chromosome pairs of the analyzed close relatives of Arabidopsis thaliana represent complex mosaics of duplicated ancestral genomic blocks reshuffled by numerous chromosome rearrangements. (plantcytogenomics.org)
Rearrangements in the stickleback lineage involving fusions of ancestral arm segments could account for the 21 chromosome pairs observed in the stickleback karyotype. (biomedcentral.com)
The heteromorphic intercourse chromosomes present in P. ephippifer aren't current on this lineage and which of its chromosome pairs is homologous to the intercourse chromosomes of P. ephippifer stay to be elucidated in addition to the position of such a karyotypic divergence within the evolution of those frogs. (genomeboy.com)
6.0 billion base pairs are present in the diploid set (23 chromosome pairs). (nih.gov)
Although mapping resolution is limited by optical detection to 500-1000 bp, the labeled DNA molecules produced by this approach are hundreds of thousands of base pairs long, allowing access to long repetitive and structurally variable genomic regions. (salk.edu)

We report the discovery, characterization, and genomic context of a novel human NBC-like gene, SLC4A9 , on chromosome 5q31. (biomedcentral.com)
Same-day genomic characterization enhances public health emergency response. (cdc.gov)

Our findings also suggest that frequent homologous recombination during meiosis might increase ectopic recombination and rearrangements within but not between chromosomes. (kmutt.ac.th)

Bacterial Artificial Chromosome. (nih.gov)
Here, we adapt CRISPR-CATCH, in vitro CRISPR-Cas9 treatment and pulsed field gel electrophoresis of agarose-entrapped genomic DNA, previously developed for bacterial chromosome segments, to isolate megabase-sized human ecDNAs. (salk.edu)

In this case, genetic mapping studies had linked a region of chromosome 6 to the disease, but sequencing DNA in the region, including the T gene, revealed no suspicious changes. (technologynetworks.com)
It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (nih.gov)
It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (nih.gov)

We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) in 5q13. (ox.ac.uk)
The YAC maps indicate that the contig contains minimal rearrangements or deletions. (ox.ac.uk)
The internal structure of each contig can be specified by the pattern of cut- ting by various restriction endonucleases-the restric- tion map. (nih.gov)

[ 4 ] In vivo aging is linked with accelerated aging of fibroblasts in culture, possibly due to the genomic instability, a hallmark of WS. (medscape.com)

Patients without mutations were then screened for TCF2 rearrangements by the quantitative multiplex PCR of short fluorescent fragments (QMPSF). (nih.gov)
But before bringing personalized therapies into the clinic, scientists need to map the different mutations that drive the development of leukemia across the landscape of diverse disease subtypes. (newswise.com)
So if a gene appears to play a role in a disease but you don't find any mutations by sequencing, looking for genomic rearrangements, including duplications or deletions in the gene, is a reasonable next step. (technologynetworks.com)
Alport syndrome (AS), an X-linked kidney disorder, has been shown to be caused by mutations in the gene for the alpha 5-chain of type IV collagen (COL4A5), which maps to Xq22. (ox.ac.uk)

The presence of extensive N-nucleotides at the point of fusion in the E2A-PBX1 translocation as well as specific characteristics of the IGH/TCR rearrangements provided additional evidence for a postnatal, preB cell origin. (nih.gov)
A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. (nih.gov)
This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. (nih.gov)

DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. (ox.ac.uk)
On the basis of the results of conventional Southern blot analysis of AS patient DNAs, we employed pulsed-field gel electrophoresis to characterize further three gene rearrangements at the 3'-end of alpha 5(IV). (ox.ac.uk)

2009) utilized MICER vectors to eliminate the complete 0.68-Mb keratin type II cluster in mouse chromosome 15 (Fig. 1 A). Due to the interdependency of type I and II keratins for 10-nm filament set up (Fig. 1 B), the causing mice represent the first effective elimination of most keratin filaments from an organism as organic being a mouse. (forgetmenotinitiative.org)
The axt alignments were fed into axtChain, which organizes all alignments between a single mouse chromosome and a single guinea pig chromosome into a group and creates a kd-tree out of the gapless subsections (blocks) of the alignments. (ucsc.edu)

Although the three species only had the 18S rDNA on one microchromosome pair, chromosomal mapping of six simple short repeats revealed a varied pattern of chromosome distribution among them, suggesting that each species underwent different repetitive DNA accumulation upon their divergence. (bvsalud.org)
The use of long molecules allows repetitive regions and other regions that are complicated to map, to be spanned more easily than with short molecules, leading to the creation of maps that may cover the hole arm of a chromosome (3). (mdanderson.org)
Right here, we described a brand new household of repetitive DNA and used its chromosomal websites together with the markers detected by a probe constructed from the microdissected section of the Z chromosome of P. ephippifer to deduce chromosomal homology. (genomeboy.com)

A distinct form of cancer-associated chromosomal variation is the formation of ring or giant marker chromosomes (neochromosomes: NCs). (sarcomahelp.org)
Analyses of X-linked factors offer new insights into human genomic variation. (brown.edu)
Variation at the loci in question is essential to genetic mapping. (nih.gov)
The variation in DNA that is the basis of genetic mapping may be reflected in the phenotype, i.e., in disorders such as Huntington's disease or cystic fi- brosis, or in immunologic, electrophoretic, or physio- logic variation, such as ABO blood group, esterase D type, or colorblindness. (nih.gov)
Two QTLs, accounting for the respective 20.4% and 19.2% of the total variation of 2-hydroxy-3-butenyl glucosinolate content, were identified and mapped to Sal02 and Sal11. (biomedcentral.com)

For example, use chromStart=0, chromEnd=0 to represent an insertion before the first nucleotide of a chromosome. (thegep.org)

The project is directed by Daniela S. Gerhard, and includes sub-projects or initiatives, with notable ones including the Cancer Chromosome Aberration Project (CCAP) and the Genetic Annotation Initiative (GAI). (wikipedia.org)
15. Genomic deletion of chromosome 12p is an independent prognostic marker in prostate cancer. (nih.gov)
1 While the oncogenic properties of cancer-associated NCs are not fully understood, gene amplification or structural gene rearrangements appear to be important. (sarcomahelp.org)
Overall, the project aims to identify the connection between the fragility of certain genomic regions and cancer predisposing and premature aging related disorders. (uniklinikum-jena.de)
These changes are usually harmless, but certain types of rearrangements can lead to cancer and other diseases. (technologynetworks.com)
Despite the critical and interrelated role of SV and CNA in tumorigenesis [ 2 ], the mechanisms driving and consequences of genomic rearrangements in cancer are less well understood than for point mutation events, and less frequently used as biomarkers for clinical purposes. (biorxiv.org)
Changes in the number of chromosomes and variations in the copy number of chromosomal regions are described in various pathological conditions, such as cancer and aneuploidy, but also in normal physiological condition. (benthamscience.com)

The Vicia faba genetic map shows a high level of synteny and relatively few chromosomal rearrangements with respect to the model sequenced legume, Medicago truncatula. (cgiar.org)
Genetic Maps (Linkage Maps) The primary genetic map depicts the location of gene loci (expressed DNA segments) in relation to each other. (nih.gov)
VNTR (variable number of tandem repeats) recognized by certain restriction enzymes are yet an- other form of polymorphism highly valuable in creat- ing the primary genetic map. (nih.gov)

An extraordinarily stable karyotype of the woody Populus species revealed by chromosome painting. (github.com)
Cytogenetic analysis showed that the karyotype of the Australian Camelineae species descended from the eight ancestral chromosomes (n = 8) through allopolyploid WGD followed by the extensive reduction of chromosome number. (plantcytogenomics.org)
The frog species Physalaemus ephippifer exists within the Amazonian area and harbors heteromorphic Z and W chromosomes. (genomeboy.com)
The cross-species applicability of ILP markers from Brassica species and Arabidopsis makes them possible to be used for genetic linkage mapping and further QTL analysis of agronomic traits in yellow mustard. (biomedcentral.com)

Ethnicity and human genetic linkage maps. (nature.com)
Our current consensus linkage map of faba bean consists of just 6 linkage groups (=six physical chromosomes), each covered with a reasonable density of SNP markers. (cgiar.org)
All linkage group arms in Atlantic salmon were syntenic with at least one stickleback chromosome, while 18 arms had multiple affinities. (biomedcentral.com)
Nine linkage groups in Arctic charr and six linkage group arms in rainbow trout currently have no synteny alignments with stickleback chromosomes, while eight rainbow trout linkage group arms were syntenic with multiple stickleback chromosomes. (biomedcentral.com)
In a comparative study, we report on the newly constructed genomic linkage maps of Apis florea and Apis dorsata that represent the two honey bee lineages without recombination rate estimates so far. (kmutt.ac.th)
The A. dorsata map is 5,762 cM long and contains 1,189 markers in 16 linkage groups. (kmutt.ac.th)
Construction of a genetic linkage map and QTL analysis of erucic acid content and glucosinolate components in yellow mustard (Sinapis albaL. (biomedcentral.com)
A total of 250 ILP and 14 SSR markers were mapped on 12 linkage groups and designated as Sal01-12 in yellow mustard. (biomedcentral.com)
The linkage map based on ILP and SSR markers was constructed and used for QTL analysis of seed quality traits in yellow mustard. (biomedcentral.com)
The ILP markers and linkage map provide useful molecular tools for yellow mustard breeding. (biomedcentral.com)
Firstly, yellow mustard has a sporophytic self-incompatibility reproductive system which makes it difficult to develop homozygote parental and recombinant inbred lines required for linkage mapping. (biomedcentral.com)
So far, only one linkage map based on restriction fragment length polymorphism (RFLP) markers was constructed using populations derived from heterozygous parental lines in yellow mustard [ 17 ]. (biomedcentral.com)

In contrast, long-reads provide a much more comprehensive view of the structural genomic changes. (nih.gov)
As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)
LINX, an interpretation tool, leverages the integrated structural variant and copy number calling to cluster individual structural variants into higher order events and chains them together to predict local derivative chromosome structure. (biorxiv.org)

Digesting genomic DNA with the restriction enzyme SfiI, they found that despite the striking difference in the migration patterns of the chromosomes, the two isolates had very similar genomic restriction fragments. (medscape.com)
Uncovering their patterns shows how chromosome dynamics underpins antibody diversity. (babraham.ac.uk)

12. Chromosome microarray characterisation of chromosome arm 12p loss associated with complex molecular karyotype and recurrent adverse cytogenetic markers in multiple myeloma. (nih.gov)
Thema: "Chromosomal fragile sites as markers of cancerogenic rearrangements - aspects of nuclear architecture and molecular localization. (uniklinikum-jena.de)
The mapping usually followed the traditional method by metaphase spreading and molecular cytogenetic definition. (uniklinikum-jena.de)
most of the map created by interspecies somatic cell hybrid- ization and by in situ chromosomal hybridization is of this type (for mapping, however, molecular genetic methods make it unnecessary that the segment of DNA be expressed). (nih.gov)
The genomic landscape and molecular pathogenesis of MAS and its variants remain unclear. (frontiersin.org)

These chromosomes contain amplified segments from the 12q13q15 region, including MDM2, CDK4 and HMGA2 oncogenes. (biomedcentral.com)

Comparative synteny analysis revealed that yellow mustard was phylogenetically related to Arabidopsis thaliana and had undergone extensive chromosomal rearrangements during speciation. (biomedcentral.com)

3. A physical, transcript, and deletion map of chromosome region 12p12.3 flanked by ETV6 and CDKN1B: hypermethylation of the LRP6 CpG island in two leukemia patients with hemizygous del(12p). (nih.gov)
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (nih.gov)
A second mutation has been shown to be a direct duplication of 35 kb of alpha 5(IV) genomic DNA, and a third mutation involves a complex insertion/deletion event resulting in an overall loss of 25 kb. (ox.ac.uk)

Western honey bees (Apis mellifera) far exceed the commonly observed 1-2 meiotic recombination events per chromosome and exhibit the highest Metazoan recombination rate (20 cM/Mb) described thus far. (kmutt.ac.th)

Phylogenomic analyses (Supplementary Fig. 5 ) used to assign A. sativa chromosomes to subgenomes showed that gene order is conserved in the proximal chromosomal regions. (nature.com)

5. Fluorescence in situ hybridization analyses of hematologic malignancies reveal frequent cytogenetically unrecognized 12p rearrangements. (nih.gov)

An efficient Oligo‐FISH painting system for revealing chromosome rearrangements and polyploidization in Triticeae. (github.com)

Determining their syntenic relationship and QTL orthology will contribute to exploit genomic resources and genetic data for key agronomic traits. (nih.gov)

Chromosomal fragile sites (CFSs) are genomic regions prone to form gaps or breaks on metaphase chromosomes. (uniklinikum-jena.de)
This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (nih.gov)

Detects repeats and complex rearrangements. (mdanderson.org)
The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. (ox.ac.uk)

Most people with 17q12 duplications have an extra copy of about 1.4 Mb of DNA at position q12 on chromosome 17. (nih.gov)

The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. (versila.com)

Currently, oat is a global crop with production ranking seventh among cereals ( http://www.fao.org/faostat/en/ , accessed May 2021). (nature.com)

The occurrence of double crossingover between two loci located more widely from each other has the effect that the recombination fraction (and cM value de- rived therefrom) does not have a linear relationship to physical distance on the chromosome. (nih.gov)

By default, the chains to chromosome-based assemblies are colored based on which chromosome they map to in the aligning organism. (ucsc.edu)
To display only the chains of one chromosome in the aligning organism, enter the name of that chromosome (e.g. chr4) in box next to: Filter by chromosome. (ucsc.edu)

It allowed identification of supernumerary ring giant chromosomes and double-minute chromosomes (dmin) in WDLPS and DDLS. (biomedcentral.com)

16. Abnormalities of the ETV6 gene occur in the majority of patients with aberrations of the short arm of chromosome 12: a combined PCR and Southern blotting analysis. (nih.gov)
Another interest of our laboratory is the genomic analysis of highly heterogeneous cell communities. (nih.gov)
We report the discovery and a genomic analysis of a sixth member of this family, SLC4A9 , a novel and alternatively spliced NBC-like gene expressed at high levels in normal adult kidney. (biomedcentral.com)
In this manuscript, we describe, for the first time, an association analysis with correction for population structure for the mapping of several loci for susceptibility to NIHL in inbred strains of mice. (prolekarniky.cz)

One of the variant forms of a gene at a particular locus on a chromosome. (nih.gov)
Using tiled Capture Hi-C, we produce a comprehensive map of chromatin interactions throughout the 2.8-Mb Igh locus in progenitor B cells. (babraham.ac.uk)
We analysed the epigenomic consequences of rearrangements between the super-enhancers of the immunoglobulin heavy locus () and proto-oncogene that are common in B cell malignancies. (babraham.ac.uk)
By integrating BLUEPRINT epigenomic data with DNA breakpoint detection, we characterised the normal chromatin landscape of the human locus and its dynamics after pathological genomic rearrangement. (babraham.ac.uk)

Our outcomes counsel that advanced rearrangements involving the chromosomes that had been inferred to be homeologous to the intercourse chromosomes of P. ephippifer have occurred throughout the divergence of this group of frogs. (genomeboy.com)

The telomeres are acquired by capture from native chromosomes, illustrated here for the GOT3 cell line by regions from chromosomes X and 1 (Figure 1A). (sarcomahelp.org)
The NC core (outside the telomeric regions) is composed of about 31Mb of highly rearranged and amplified fragments of multiple native chromosomes. (sarcomahelp.org)
Furthermore, each of the 12 chromosomes exhibited a number of rearrangements involving small regions of 0.5-0.7 Mbp. (nih.gov)
The 21 A. sativa chromosomes, named 1A-7D following the subgenome assignments of ref. 13 , were oriented to preserve the orientations of core regions across homoeologues and possibly between Avena and Triticeae. (nature.com)
In MLPS, the most frequent CNAs were losses of chromosome 6 (40%) and gains of chromosome 1 (30%), with the minimal overlapping regions 6q14.1q22.31 and 1q25.1q32.2, respectively. (biomedcentral.com)

cused on genomic research discoveries and their importance for nursing education, practice, policy, and research. (nih.gov)

We sequenced the genomic fusion between E2A and PBX1 in 22 preB acute lymphoblastic leukemias and two cell lines. (nih.gov)

Multicolor comparative chromosome painting was used to reconstruct complete cytogenetic maps of the cryptic ancient polyploids. (plantcytogenomics.org)

This experiment showed that chromosome length polymorphism owing to RPS difference was the case for several clinical strains. (medscape.com)

Anatomy53

Organisms3

Diseases24

Chemicals and Drugs30

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology1

Phenomena and Processes176

Disciplines and Occupations3

Information Science6

Health Care1

Genome43

Sequences11

Sequence16

Translocations8

Assigned to specific chromosomes1

Large genomic rearrangements4

Genes14

Include genomic1

Comparative genomic1

Tumors5

Genomes3

Pairs11

Characterization2

Homologous1

Bacterial2

Region of chromosome3

Contig3

Instability1

Mutations4

Translocation3

Electrophoresis2

Mouse chromosome2

Repetitive3

Variation5

Nucleotide1

Cancer7

Genetic map3

Species4

Linkage12

Structural3

Patterns2

Molecular5

Contain amplified1

Undergone1

Deletion3

Recombination events1

Chromosomal regions1

Hybridization1

Polyploidization1

Syntenic1

Prone2

Repeats2

Duplications1

Mutation1

20211

Occurrence1

Organism2

WDLPS1

Analysis4

Locus4

Divergence1

Regions5

Discoveries1

Acute1

Cryptic1

Polymorphism1