• CGH has been widely applied to detect gains and losses of DNA sequences on specific chromosomes in the study of solid tumours, 1 but has not been extensively used to study unbalanced constitutional karyotypes. (bmj.com)
  • Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)
  • A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. (wikipedia.org)
  • Thus, it is possible chromosomal fissions in macrochromosomes resulted in the increase of the diploid number, whereas chromosome fusions have originated the karyotypes with low diploid number. (pensoft.net)
  • Avian karyotypes are characterized by internal variation in the size of chromosomes, presenting two distinct groups, macrochromosomes and microchromosomes. (pensoft.net)
  • These heterochromatin patterns and the number of chromosomes are characteristics exclusive to Melipona karyotypes that distinguish them from the other genera of the Meliponini. (karger.com)
  • We inferred the APK as having n = 11 and 19 GBs (A to S), hypothesizing five chromosome fusions that reduced the ancestral legume karyotype to n = 11. (bvsalud.org)
  • Polysomy of chromosome 13 (Polysomy 13) is significant in the development of prostate cancer and is often caused by centric fusions. (wikipedia.org)
  • Chromosome 1 may contain a gene responsible for tumor development and lead to changes in the karyotype, including fusion of the centromere, or centric fusions. (wikipedia.org)
  • The investigated species present a stable chromosome number (2n = 22), but differ in their karyotype formulae, suggesting the presence of chromosome rearrangements. (bvsalud.org)
  • Single copy bacterial artificial chromosomes (BACs) previously mapped in the related genera Phaseolus L. and Vigna Savi were used to establish chromosome orthologies and to investigate possible rearrangements among species. (bvsalud.org)
  • We also used oligo-FISH probes of two P. vulgaris chromosomes to paint the orthologous chromosomes of two non-sequenced Phaseolinae species. (bvsalud.org)
  • We identified the rearrangements among the APK and the subtribes and species, with extensive centromere repositioning in Phaseolus. (bvsalud.org)
  • The FISH barcode system emerges as an effective tool to understand the chromosome evolution of economically important legumes and their related species. (bvsalud.org)
  • Current status on plant cytogenetic and cytogenomic research has allowed the selection and design of oligo-specific probes to individually identify each chromosome of the karyotype in a target species. (bvsalud.org)
  • and chromosomes 2 and 3) between both species. (bvsalud.org)
  • Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. (wikipedia.org)
  • Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. (wikipedia.org)
  • Phylogenomic studies using chromosome painting confirms the high conservation of DNA between even distantly related species [ 13 ]. (biomedcentral.com)
  • The highly skewed distribution of recombination events towards the chromosome ends in zebra finches and other estrildid species may function to minimize crossovers in the inverted regions. (biomedcentral.com)
  • Thus, the aim of this study was to describe the karyotype structure of the Ringed Kingfisher ( Megaceryle torquata Linnaeus, 1766) and Green Kingfisher ( Chloroceryle americana Gmelin, 1788) and also compare them with related species in order to identify chromosomal rearrangements. (pensoft.net)
  • A total of 93 BAC clones were used to localize the chromosome complement of the species and 588 genes were annotated, thus almost reaching the 2.5% of the genome sequences. (metasystems-international.com)
  • In addition, chromosomes with a high number of linked genes that are conserved, even in distant species, were detected. (metasystems-international.com)
  • This kind of result widens the knowledge of this species' chromosome dynamics and evolution. (metasystems-international.com)
  • Cytogenetically, the species of the genus Melipona show variation in the amount and distribution of heterochromatin along their chromosomes and can be separated into 2 groups: the first with low content of heterochromatin and the second with high content of heterochromatin. (karger.com)
  • In general, Melipona species have 2n = 18 chromosomes, and the species of each subgenus share the same characteristics in relation to heterochromatin regions, DAPI/CMA 3 fluorophores, and the number and distribution of 18S rDNA sites. (karger.com)
  • The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
  • As a result, important data about its genome organization and evolution were obtained, such as the lesser gene density of the large metacentric pair compared with the other metacentric chromosomes, which supports the theory of a sex proto-chromosome pair. (metasystems-international.com)
  • Olga Dudchenko has extensive experience with data analysis involving Hi-C, a method for probing the 3D structure of genomes through proximity ligation and high-throughput sequencing, specifically those involving genome assembly, phasing and structural rearrangement analysis. (cegs-cgi.org)
  • She is the author of several widely used bioinformatics tools for Hi-C based genome assembly including 3D-DNA, the pipeline for automatic assembly of chromosomes using Hi-C data, and Juicebox Assembly Tools or JBAT, an interactive tools for manual polishing of genome assemblies. (cegs-cgi.org)
  • Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
  • The stochastic inheritance of chromosome fragments by both newly formed daughter cells could in part contribute to the alternating DNA copy-number states that are characteristic of chromothripsis 2 . (nature.com)
  • Polysomic inheritance occurs during meiosis when chiasmata form between more than two homologous partners, producing multivalent chromosomes. (wikipedia.org)
  • Autopolyploids may show polysomic inheritance of all the linkage groups, and their fertility may be reduced due to unbalanced chromosome numbers in the gametes. (wikipedia.org)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • In addition, karyotype comparisons in Alcedinidae show a heterogeneity in the size and morphology of macrochromosomes, and chromosome numbers ranging from 2n = 76 to 132. (pensoft.net)
  • To better understand the karyotype organization in Melipona and the relationship among the subgenera, we mapped repetitive sequences and analyzed previously reported cytogenetic data with the aim to identify cytogenetic markers to be used for investigating the phylogenetic relationships and chromosome evolution in the genus. (karger.com)
  • We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
  • Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.com)
  • Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)
  • Abnormalities of chromosome 13 have been observed in canine osteoid chondrosarcoma and lymphosarcoma. (wikipedia.org)
  • Some of the most frequent genetic disorders are abnormalities of sex chromosomes, but polysomies rarely occur. (wikipedia.org)
  • Polysomy is usually caused by non-disjunction (the failure of a pair of homologous chromosomes to separate) during meiosis, but may also be due to a translocation mutation (a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes). (wikipedia.org)
  • Libert F., Lefort A., Okimoto R., Womack J., Georges M., Construction of a bovine genomic library of large yeast artificial chromosome clones, Genomics 18 (1993) 270-276. (gse-journal.org)
  • Comparative genomic studies have evidenced the preservation of large genomic blocks among legumes, although chromosome dynamics during Phaseoleae evolution has not been investigated. (bvsalud.org)
  • I want to understand the relationship between homologous chromosome shapes, epigenetic marks, and transcriptional programs in extreme scenarios using homolog-specific super-resolution imaging and chromatin conformation capture technologies. (cegs-cgi.org)
  • A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
  • [1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikipedia.org)
  • The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
  • We measured the meiotic recombination rate in two regions of chromosome 5, containing or not an NLR gene cluster. (metasystems-international.com)
  • In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
  • Polysomy types are categorized based on the number of extra chromosomes in each set, noted as a diploid (2n) with an extra chromosome of various numbers. (wikipedia.org)
  • Eastmond D.A., Rupa D.S., Hasegawa L.S., Detection of hyperdiploidy and chromosome breakage in interphase human lymphocytes following exposure to the benzene metabolite hydroquinone using multicolor fluorescence in situ hybridization with DNA probes, Mutat. (gse-journal.org)
  • Mechanistically, the CIP2A-TOPBP1 complex prematurely associates with DNA lesions within ruptured micronuclei during interphase, which poises pulverized chromosomes for clustering upon mitotic entry. (nature.com)
  • Genetic polymorphisms range in size from single nucleotides (SNPs) to large scale insertions, deletions, or rearrangements that span several millions of base pairs [ 1 , 2 ]. (biomedcentral.com)
  • This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
  • Bahri-Darwich I., Vaiman D., Olsaker I., Oustry A., Cribiu E.P., Assignment of bovine synteny groups U27 and U8 to R-banded chromosome 12 and 27, respectively, Hereditas 120 (1994) 261-265. (gse-journal.org)
  • BAC markers demonstrated conserved synteny of the main rDNA sites on orthologous chromosomes 6 and 10, as previously observed for Phaseolus and Vigna. (bvsalud.org)
  • The seven chromosome pairs of KJJ81 subgenomes exhibit highly conserved synteny, indicating a very recent hybridization event. (biomedcentral.com)
  • Inversions are intrachromosomal structural mutations which result in the reversal of gene order (and no change in the genic content of a chromosome) [ 4 ]. (biomedcentral.com)
  • Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
  • Cai L., Taylor J. F., Wing R.A., Gallagher D.S., Woo S.S., Davis S.K., Construction and characterization of a bovine bacterial artifical chromosome library, Genomics 29 (1995) 413-425. (gse-journal.org)
  • The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
  • One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
  • Chromosomal identification of marker chromosomes and extra bands on chromosomes through molecular techniques is always of clinical interest. (bmj.com)
  • Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
  • Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
  • Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)
  • Pinkel D., Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome specific DNA probes, Mutat. (gse-journal.org)
  • Here, we developed the first chromosome identification system for legumes based on oligo-FISH barcode probes. (bvsalud.org)
  • Thus, distinct patterns of chromothripsis can be explained by the spatial clustering of pulverized chromosomes from micronuclei. (nature.com)
  • However, in most cases, these patterns of chromothripsis differed from those in cancer genomes as the rearrangements were largely restricted to a single daughter cell and lacked the canonical oscillations in DNA copy-number states 2 . (nature.com)
  • These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
  • Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)
  • De Novo Centromere Formation in Pericentromeric Region of Rice Chromosome 8. (zhangtaolab.org)
  • Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
  • KEY MESSAGE: An Oligo-FISH barcode system was developed for two model legumes, allowing the identification of all cowpea and common bean chromosomes in a single FISH experiment, and revealing new chromosome rearrangements. (bvsalud.org)
  • As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
  • X chromosome polysomies can be inherited from either a single maternal (49, X polysomies) or paternal (48, X polysomies) X chromosome. (wikipedia.org)
  • In particular, a distinction between those inversions which cover both chromosome arms and thus include the centromere (pericentric inversions) and those which are restricted to a single chromosome arm (paracentric inversions) has often been made [ 9 ]. (biomedcentral.com)
  • The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)
  • Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)
  • 49,XXXXY chromosome polysomy occurs every 1 in 85,000 newborn males. (wikipedia.org)
  • In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise normal chromosomes. (bmj.com)
  • Comprehensive analysis of pan-cancer genomes revealed clusters of DNA copy-number-neutral rearrangements-termed balanced chromothripsis-across diverse tumour types resulting in the acquisition of known cancer driver events. (nature.com)
  • Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. (biomedcentral.com)
  • Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)
  • Stains used by pathologists to identify bacteria also served to identify chromosomes. (biomedcentral.com)
  • These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
  • Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)
  • Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of chromosome 21. (wikipedia.org)
  • [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
  • He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
  • Since canine chromosome 13 is similar to human chromosome 8q, research could provide insight to treatment for prostate cancer in humans. (wikipedia.org)
  • Chromosome 17 polysomy may not be present when the centromere is amplified, so it was later discovered that polysomy 17 is rare. (wikipedia.org)
  • Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). (wikipedia.org)
  • The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
  • Eggen A., Solinas T.S., Fries R.A., Cosmid specific for sequences encoding a microtubule associated protein, MAPIB, contains a polymorphic microsatellite and maps to bovine chromosome 20q14, J. Hered. (gse-journal.org)
  • Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. (wikipedia.org)