• Fluorescence in situ hybridization of the mouse cDNA to rodent metaphase spreads demonstrated that the Akt2 gene maps to mouse chromosome band 7B1 and rat chromosome 1q22. (nih.gov)
  • Using fluorescence in situ hybridization mapping, the CD86, like CD80, was mapped to human 3q21 and mouse chromosome 16, band B5. (innov-research.com)
  • We described the karyotypes of Dendropsophus seniculus (Cope, 1868), D. soaresi (Caramaschi & Jim, 1983) and D. novaisi (Bokermann, 1968) based on Giemsa staining, C-banding, silver impregnation and in situ hybridization with telomeric probes. (pensoft.net)
  • Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization. (uchicago.edu)
  • The latter should be based on chromosome banding analysis as well as on molecular genetic analyses, such as "next-generation sequencing" of relevant genes supplemented with fluorescence in situ hybridization and/or reverse transcription polymerase chain reactions analyses when needed. (cancercentrum.se)
  • This results in the formation of unique, giant chromosomes, called polytene chromosomes. (jove.com)
  • When viewed under a microscope, an alternating pattern of dark bands and lighter interbands can be seen in the polytene chromosomes. (jove.com)
  • Polytene chromosomes are structures found in highly specialized tissues in some animal and plant species, which are amplified through successive cycles of endoreduplication, finally producing several copies of each chromosome. (scielo.br)
  • In plants, polytene chromosomes have been observed in only a few species, and seemed to be restricted to ovary and immature seed tissues, e.g., in Phaseolus coccineus and P. vulgaris (Nagl, 1981), until relatively recently, when they were observed in the cells of the anther tapetum of Vigna unguiculata (Guerra and Carvalheira, 1994) and of some Phaseolus species (Carvalheira and Guerra, 1994). (scielo.br)
  • 1985) described polytene chromosomes as giant chromosomes produced by changes in the mitotic cycle during the interphase stage. (scielo.br)
  • 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)
  • Several cytogenetic techniques (AgNOR, C- G- and RE bandings, DAPI, CMA 3 and FISH) were applied in order to analyze the structure and variability of NORs in the fish species Steindachneridion melanodermatum and S. scripta . (ingentaconnect.com)
  • Human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R): localization to chromosome band 7p14 and integration into the cytogenetic, physical, and genetic map of chromosome 7. (uchicago.edu)
  • We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population. (hindawi.com)
  • Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22 and identification of simple tandem repeat polymorphisms. (uchicago.edu)
  • An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. (uchicago.edu)
  • As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)
  • Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.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)
  • Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)
  • 3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
  • The mouse genome contains 50 copies of a long complex repeat unit localized as a repeat sequence island to the A3 Giemsa-positive (dark) band on the mouse X chromosome. (ox.ac.uk)
  • 5' upstream sequence from genome annotation release 4.1.1. (kit.jp)
  • Remarkable advancement in next generation sequencing technology has made personal genome analysis feasible and affordable. (ijpsonline.com)
  • Here we present the whole genome sequence analysis of an individual from the Kashmir region of India who is from the pandit community (IHGP04). (ijpsonline.com)
  • The Indian male's genome was sequenced at 38.6 X coverage with a total of 110 Gb of sequence data generated using the Illumina HiSeq 2000 platform. (ijpsonline.com)
  • The ENCODE Project has found that 80 per cent of the human genome sequence is linked to biological function. (blogspot.com)
  • 2014) points out that the purpose of the ENCODE project was to discover functional sequences in the human genome. (blogspot.com)
  • The STR sequence template file published in 2016 as part of the considerations from the DNA Commission of the International Society for Forensic Genetics on minimal STR sequence nomenclature requirements, has been comprehensively revised and audited using the latest GRCh38 genome assembly. (leapdna.org)
  • resurrected the genus Dendropsophus Fitzinger, 1843 to accommodate all Neotropical hylid species known or suspected to have a diploid chromosome number 2n = 30. (pensoft.net)
  • Karyotype of a patient with a deletion of chromosome region 22q11. (medscape.com)
  • two (cases 31 and 33) were de novo translocations involving the 22q13 band and the short arm of an unidentified acrocentric, with the karyotype 46,XX,der(22)t(22;acro)(q13;p11). (bmj.com)
  • a noticeable variation in the number of biarmed/telocentric chromosomes is observed among them, suggesting that several chromosomal rearrangements took place after the evolutionary origin of the hypothetical ancestral 30-chromosome karyotype. (pensoft.net)
  • METHODS: Conventional G-banding was used to analyze the chromosome karyotype of the patient. (bvsalud.org)
  • Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. (bmj.com)
  • Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. (barrowneuro.org)
  • Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. (uchicago.edu)
  • Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q. (uchicago.edu)
  • Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q. (uchicago.edu)
  • Microsatellite polymorphism in the human platelet glycoprotein IIIa gene (GP3A) on chromosome 17. (uchicago.edu)
  • Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
  • Clone Y1 hybridized to multiple restriction enzyme fragments in both male and female DNA with more intense bands in male DNA. (barrowneuro.org)
  • Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. (barrowneuro.org)
  • Clone Y5 was male specific in three of four restriction enzyme digests although in the fourth a light hybridizing band was observed in both male and female DNA. (barrowneuro.org)
  • However, they showed negative coloration after G- and restriction enzyme banding and DAPI staining. (ingentaconnect.com)
  • The terminal regions of human chromosomes are known to contain specialised DNA sequences and may be vulnerable to rearrangements causing human genetic diseases and particularly idiopathic mental impairment. (bmj.com)
  • Our study involved 33 patients with a "pure" partial 22q13 monosomy, with exclusion of all rearrangements involving loss or gain of euchromatic material from any other chromosome than number 22. (bmj.com)
  • However, the chromosomes and events involved in these rearrangements also remain undiscovered because most Dendropsophus species karyotypes are not yet described, and few chromosomal markers are available for the known karyotypes, preventing reliable hypotheses of chromosome homeology. (pensoft.net)
  • Human hexokinase II: localization of the polymorphic gene to chromosome 2. (uchicago.edu)
  • cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. (uchicago.edu)
  • Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p 13. (uchicago.edu)
  • In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to the condition, sometimes with less severe symptoms than affected males. (medlineplus.gov)
  • Here, hundreds to thousands of copies of each chromosome are generated without any cell division. (jove.com)
  • A female patient with non-syndromic mental retardation was shown by high resolution GTL banding to have inherited an apparently balanced translocation, 46,X,t(X;8)(q28;q12)mat. (bmj.com)
  • To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
  • Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.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)
  • If the two species share a common ancestor, scientists should be able to figure out what happened to that chromosome. (rationalwiki.org)
  • Sequences of amplified cytochrome oxidase subunit I (CO I), cytochrome oxidase b (cyt b), internal transcribed spacer 2 (ITS2), 18s and 28s rDNA regions were analysed to confirm the number of sibling species. (biomedcentral.com)
  • The 18s, 28s rDNA and cytochrome oxidase subunit I (CO I), internal transcribed spacer 2 (ITS2) and cytochrome b oxidase (cytb) sequences confirmed that the species belonged to the Argentipes complex. (biomedcentral.com)
  • 18s and 28s sequences did not show any variation among the proposed sibling species. (biomedcentral.com)
  • Distinct numbers of telocentric chromosomes are found in the two most cytogenetically studied species groups of Dendropsophus . (pensoft.net)
  • In contrast, all three species of the Dendropsophus marmoratus (Laurenti, 1768) group that are already karyotyped presented five pairs of telocentric chromosomes. (pensoft.net)
  • In this study, we analyzed cytogenetically three additional species of this group to investigate if the number of telocentric chromosomes in this group is not as variable as in other Dendropsophus groups. (pensoft.net)
  • Dendropsophus seniculus , D. soaresi and D. novaisi presented five pairs of telocentric chromosomes, as did the remaining species of the group previously karyotyped. (pensoft.net)
  • Though the species of this group show a high degree of karyotypic similarity, D. soaresi was unique in presenting large blocks of het- ITSs (heterochromatic internal telomeric sequences) in the majority of the centromeres. (pensoft.net)
  • The NOR bearing chromosomes in both species may be considered homologues because they maintain conserved characteristics, such as being interspersed with a GC-rich heterochromatin and possessing target sequences for Alu I, Bam HI and Eco RI. (ingentaconnect.com)
  • In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell usually causes a more severe condition called isolated lissencephaly sequence (ILS). (medlineplus.gov)
  • Most males with subcortical band heterotopia have a DCX gene mutation that is not inherited and is present in only some of the body's cells, a situation known as mosaicism. (medlineplus.gov)
  • When subcortical band heterotopia is caused by a PAFAH1B1 gene mutation, it is generally not inherited but arises from a mutation in the body's cells that occurs after conception, which leads to mosaicism. (medlineplus.gov)
  • 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)
  • The long series of GA repeats in Y5, anticipated to be polymorphic, may provide a sensitive means to follow Y chromosome variation in human populations. (barrowneuro.org)
  • The 2Ru inversion, spanning roughly 8% of chromosome 2R, is commonly polymorphic in West African populations of An. (cdc.gov)
  • The endomitotic cycle (endomitosis) starts with a normal prophase (endoprophase), after which the chromosome contracts further (endometaphase), their sister chromatids separate from each other (endoanaphase) and decondense to assume the interphase nuclear structure, resulting in polyploid cells, with double the chromosome number (endopolyploidy) at the end of each cycle. (scielo.br)
  • The events of meiotic prophase follow a specialized round of DNA replication when the meiotic chromosome axis is formed. (biorxiv.org)
  • A . Schematic of the bouquet configuration of chromosomes during meiotic prophase I. The spatial arrangement of chromosomes with telomeres clustered and attached at the inner nuclear membrane is shown. (biorxiv.org)
  • In the endoreduplication cycle, the chromatid number is duplicated, but they do not segregate, and after various endoreduplication cycles, larger and thicker chromosomes are produced, called polytenics. (scielo.br)
  • Surprisingly, the nup2Δ ndj1Δ double mutant failed to segregate chromosomes, even though the meiotic program continued. (biorxiv.org)
  • Such cells, called polyploid cells, contain multiple sets of each chromosome. (jove.com)
  • The Npas2 gene has been found to reside on chromosome 1 at 17.98 centimorgans and is 169,505 bases long. (wikipedia.org)
  • The erythropoietin gene has been found on human chromosome 7 (in band 7q21). (essayeducation.com)
  • Mutations in the DCX or PAFAH1B1 gene cause subcortical band heterotopia. (medlineplus.gov)
  • Most individuals with subcortical band heterotopia have DCX gene mutations. (medlineplus.gov)
  • When subcortical band heterotopia is caused by mutations in the DCX gene, it is inherited in an X-linked pattern. (medlineplus.gov)
  • Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
  • Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)
  • The mutations that produce genetic defects in humans will almost certainly turn out to be in well-understood parts of the gene or its closely associated regulatory sequences. (blogspot.com)
  • The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
  • Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
  • and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)
  • More recently DNA sequence analysis of conserved regions of Ribosomal DNA (rDNA) or mitochondrial markers (e.g. cytochrome oxidase subunit I or cytochrome b oxidase) have been used. (biomedcentral.com)
  • Overexpression of mitochondrial-targeted TERT (mito-TERT) via adeno-associated virus serotype 9 carrying the TERT-coding sequence fused with N-terminal mitochondrial-targeting sequence improved cardiac function and attenuated cardiac hypertrophy. (bvsalud.org)
  • Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (medlineplus.gov)
  • In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. (medlineplus.gov)
  • The abnormal brain development causes neurological problems in people with subcortical band heterotopia. (medlineplus.gov)
  • Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood. (medlineplus.gov)
  • More than 200 cases of subcortical band heterotopia have been reported in the scientific literature. (medlineplus.gov)
  • The inheritance pattern of subcortical band heterotopia depends on its genetic cause. (medlineplus.gov)
  • In this context, we have recently reported a complete sequence analysis of a male from the Western part of The contemporary Indian population is an admixture of several waves of human migration from various directions, which is believed to have been segregated into various communities over the past 2000 y or so[ 2 ]. (ijpsonline.com)
  • Ag-NORs were observed on the short arm of the first acrocentric chromosome pair, coincidentally with a strong C-positive band on a large secondary constriction. (ingentaconnect.com)
  • As Drosophila larvae progress from one developmental stage to another, specific bands and interbands greatly increase in diameter, producing structures called 'Puffs' or 'Balbiani' rings. (jove.com)
  • The gene's cDNAs encoding mouse and human forms of NPAS2 were isolated and sequenced. (wikipedia.org)
  • The predicted 824-amino acid human NPAS2 protein shares 87% sequence identity with mouse Npas2. (wikipedia.org)
  • Sequence analysis revealed that, like its human homolog, Akt2 encodes a protein-serine/threonine kinase containing a pleckstrin homology domain at its amino terminus. (nih.gov)
  • Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. (uchicago.edu)
  • 18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
  • Additionally, a range of uncertainty factors were considered for deriving OELs that correspond to each band, including interspecies extrapolation, human variability, and severity of effects. (cdc.gov)
  • The assay, which requires only one PCR, and no additional post-PCR processing other than electrophoresis, produced a clear banding pattern for 98.5% of the 454 specimens tested, which is a 96.7% agreement with established karyotyping methods. (cdc.gov)
  • This track shows chromosome bands annotated by FlyBase ( D. melanogaster version 6.02 ). (wustl.edu)
  • Velocardiofacial syndrome (VCFS) is caused by a deletion (microdeletion) at the q11.2 band, which is located on the long arm (q) of chromosome 22 (see the images below). (medscape.com)
  • As an example, chimpanzees have one more chromosome than humans do. (rationalwiki.org)
  • Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
  • The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. (hindawi.com)
  • Terminal deletions at the long arm of chromosome 7 have been described more frequently in the medical literature [ 1 , 2 ] compared to interstitial deletions at the distal 7q region. (hindawi.com)
  • The aim of this case report is to further understand the phenotypic features associated with interstitial deletions at the long arm of chromosome 7 and offer a basis for the development of a possible syndromic profile for these deletions in the future. (hindawi.com)
  • Teixeira LSR, Seger KG, Targueta CP, Orrico VGD, Lourenço LB (2016) Comparative cytogenetics of tree frogs of the Dendropsophus marmoratus (Laurenti, 1768) group: conserved karyotypes and interstitial telomeric sequences. (pensoft.net)
  • These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)
  • [ 7 ] Sequencing and copy number analysis of both PAX3 and MITF should be considered as part of the routine molecular diagnostic evaluation of these patients. (medscape.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)
  • CMA offers the highest diagnostic yield (approximately 15-20%) in individuals with unexplained DD/ID, ASD, and multiple congenital anomalies (MCAs) and is preferred to chromosome analysis (karyotyping). (arupconsult.com)
  • Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
  • The diploid number 2n = 30 is a presumed synapomorphy of Dendropsophus Fitzinger, 1843, although a noticeable variation in the number of biarmed/telocentric chromosomes is observed in this genus. (pensoft.net)
  • We outline several aspects of sequence alignment and annotation that required care and attention to detail when comparing sequences to GRCh37 and GRCh38 assemblies, as well as the necessary matching of MPS-based allele descriptions to previously established repeat region structures described in initial sequencing studies of the less well known forensic STRs. (leapdna.org)
  • gambiae karyotyped either cytogenetically or molecularly using a genotyping-in-thousands by sequencing (GT-seq) high-throughput approach that employs targeted sequencing of multiplexed PCR amplicons. (cdc.gov)
  • A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. (uchicago.edu)
  • The repeat sequence island possesses two notable features that have been suggested as diagnostic features of mammalian Giemsa-positive bands. (ox.ac.uk)
  • The mammalian and mouse Npas2 gene was first sequenced and characterized in 1997 Dr. Steven McKnight's lab and published by Yu-Dong Zhou et al. (wikipedia.org)
  • [ 1 ] Its genetic cause is a microdeletion of chromosome 22 at band q11.2. (medscape.com)
  • The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. (noncode.org)
  • Earlier, unpublished versions of the NIOSH Occupational Exposure Banding process included band-specific ranges that approximate the GHS hazard categories, but has refined these cut points based on exposure response analyses, comparisons of OEBs to current OELs, and technical expertise. (cdc.gov)
  • Unusual molecular characteristics of a repeat sequence island within a Giemsa-positive band on the mouse X chromosome. (ox.ac.uk)
  • Then, the cell distributes a copy of each chromosome between the two daughter cells so that each daughter cell receives a complete set of chromosomes. (jove.com)
  • If the Tier 1 evaluation results in a band E, Tier 2 is optional given that band E represents the lowest exposure concentration range and a Tier 2 process would not result in a more stringent recommendation. (cdc.gov)
  • A distinct group of 22q13 monosomies has been reported that result from the formation of a ring chromosome which combines loss of some long arm material with loss of part of the short arm, with no clinical consequences. (bmj.com)
  • Similarities in amino acid sequences between various organisms also suggest common descent, and the fossil record also shows cases in which one plant or animal type evolved into different types over time. (rationalwiki.org)
  • pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (cdc.gov)
  • The numerical cut points defining each OEB reflect the spectrum of possible outcomes, from little or no adverse effects (band A) through highly toxic/lethal at low exposures (band E). (cdc.gov)