The conservation of number and location of 18S sites indicates the relative stability of rDNA in species of Pentatomomorpha (Heteroptera)

Genome ◽  
2013 ◽  
Vol 56 (7) ◽  
pp. 425-429 ◽  
Author(s):  
Vanessa Bellini Bardella ◽  
Thiago Fernandes ◽  
André Luís Laforga Vanzela
Keyword(s):  
Sex Chromosomes ◽  
18S Rdna ◽  
Fluorescent In Situ Hybridization ◽  
Evolutionary History ◽  
Conclusive Evidence ◽  
Fish Analysis ◽  
Comparative Cytogenetics ◽  
Rdna Sites ◽  
History Of

Fluorescent in situ hybridization (FISH) with rDNA probes has been used for comparative cytogenetics studies in different groups of organisms. Although heteropterans are a large suborder within Hemiptera, studies using rDNA are limited to the infraorder Cimicomorpha, in which rDNA sites are present in the autosomes or sex chromosomes. We isolated and sequenced a conserved 18S rDNA region of Antiteuchus tripterus (Pentatomidae) and used it as a probe against chromosomes of 25 species belonging to five different families of Pentatomomorpha. The clone pAt05, with a length of 736 bp, exhibited a conserved stretch of 590 bp. FISH analysis with the probe pAt05 always demonstrated hybridization signals in sub-terminal positions, except for Euschistus heros. Apparently, there is a tendency for 18S rDNA sites to locate in autosomes, except for Leptoglossus gonagra and Euryophthalmus rufipennis, which showed signals in the m- and sex chromosomes, respectively. Although FISH has produced evidence that rearrangements are involved in rDNA repositioning, whether in different autosomes or between sex and m-chromosomes, we have no conclusive evidence of what were the pathways of these rearrangements based on the evolutionary history of the species studied here. Nevertheless, the diversity in the number of species analyzed here showed a tendency of 18S rDNA to remain among the autosomes.

Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma

2021 ◽  
pp. 112067212110307
Author(s):  
Raquel María Moral ◽  
Carlos Monteagudo ◽  
Javier Muriel ◽  
Lucía Moreno ◽  
Ana María Peiró
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Pediatric Population ◽  
Diagnostic Technique ◽  
Histopathological Diagnosis ◽  
Fish Analysis ◽  
Conjunctival Melanoma ◽  
Adequate Treatment ◽  
First Case

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis of conjunctival melanoma could be made. Following a larger re-excision, adjuvant therapy with Mitomycin C (MMC), cryotherapy and an amniotic membrane graft, the patient has remained disease-free during 9 years of long-term follow-up. Case discussion: Every ophthalmologist should remember to consider and not forget the possibility of using FISH analyses during the differential diagnosis of any suspicious conjunctival lesions. Genetic techniques, such as FISH, have led to great advances in the classification of ambiguous lesions. Evidence-based guidelines for diagnosing conjunctival melanoma in the pediatric population are needed to determine the most appropriate strategy for this age group.

scholarly journals A Gradual Process of Recombination Restriction in the Evolutionary History of the Sex Chromosomes in Dioecious Plants

PLoS Biology ◽  
2004 ◽  
Vol 3 (1) ◽  
pp. e4 ◽  
Author(s):  
Michael Nicolas ◽  
Gabriel Marais ◽  
Vladka Hykelova ◽  
Bohuslav Janousek ◽  
Valérie Laporte ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Evolutionary History ◽  
Dioecious Plants ◽  
Gradual Process ◽  
History Of

scholarly journals Comparative molecular cytogenetics in Melipona Illiger species (Hymenoptera, Apidae)

Sociobiology ◽  
2018 ◽  
Vol 65 (4) ◽  
pp. 696 ◽  
Author(s):  
Vanderly Andrade-Souza ◽  
Olivia Maria Pereira Duarte ◽  
Cinthia Caroline Cardoso Martins ◽  
Igor Silva Santos ◽  
Márcio Gilberto Cardoso Costa ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chromosome Number ◽  
Fluorescent In Situ Hybridization ◽  
Molecular Cytogenetics ◽  
Fluorochrome Staining ◽  
Rdna Sites ◽  
Cytogenetic Studies ◽  
Melipona Species ◽  
Almost All

Cytogenetic studies in Melipona are scarce with only 24 species analyzed cytogenetically. Of these, six species had the rDNA sites physically mapped and characterized by Fluorescent in situ Hybridization (fish). The aim of this study was to perform karyotype analyzes on Melipona species from different regions of Brazil, with a greater sampling representative of the Amazonian fauna and using conventional, fluorochrome staining and FISH with heterologous rDNA probes. The predominant chromosome number was 2n = 18, however, the subspecies M. seminigra abunensis and M. s. pernigra showed 2n = 22 chromosomes. The karyotypes were symmetrical, however M. bicolor, M. quadrifasciata, M. flavolineata, M. fuscopilosa, M. nebulosa presented the first pair heteromorphic in length. CMA3+ blocks also exhibited heteromorphism of size and in almost all cases coincided with rDNA sites, except for M. crinita and M. nebulosa, which presented additional non-coincident CMA3+ blocks. The CMA/ rDNA sites were terminal and interstitial in species with high heterochromatic content, and pericentromeric in those species with low heterochromatic content. In addition to pointing out cytogenetic features of cytotaxonomic importance, the reorganization of the genome in Melipona is discussed.

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽  
1999 ◽  
Vol 94 (2) ◽  
pp. 724-732 ◽  
Author(s):  
Palma Finelli ◽  
Sonia Fabris ◽  
Savina Zagano ◽  
Luca Baldini ◽  
Daniela Intini ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Cell Lines ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Translocation ◽  
Fish Analysis ◽  
Interphase Nuclei ◽  
Igh Locus ◽  
Normal Controls

Abstract Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

scholarly journals Monocentric chromosomes in Juncus (Juncaceae) and implications for the chromosome evolution of the family

2019 ◽  
Vol 191 (4) ◽  
pp. 475-483 ◽  
Author(s):  
Marcelo Guerra ◽  
Tiago Ribeiro ◽  
Leonardo P Felix
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome Evolution ◽  
Holocentric Chromosomes ◽  
Mitotic Chromosomes ◽  
Restricted Area ◽  
Rdna Sites ◽  
The Family ◽  
Meiotic Analyses

Abstract Holocentric chromosomes are rare among angiosperms, but have been suggested to be shared by all or most of the species of Cyperaceae and Juncaceae. However, no clear demonstration of the centromere type in Juncus, the largest genus of Juncaceae, has so far been published. Thus, we conducted a detailed chromosomal investigation of four Juncus spp. aiming to identify their centromere type. Mitotic chromosomes were analysed using the fluorochromes CMA and DAPI, fluorescent in situ hybridization (FISH) with rDNA probes and immunodetection of histones H3 phosphorylated at serine 10 (H3-S10ph) and H2A phosphorylated at threonine 133 (H2A-T133ph). DAPI-stained chromosomes of all species displayed typical primary constrictions, which were not related to AT-poor CMA+ heterochromatin or rDNA sites (usually negatively stained with DAPI). Immunodetection with H3-S10ph and H2A-T133ph revealed hyperphosphorylation of pericentromeric and centromeric regions, respectively, in a restricted area, as observed in monocentric chromosomes. Meiotic analyses in J. microcephalus showed no indication of inverted meiosis, commonly found in plants with holocentric chromosomes. Since the species investigated here belong to four different sections of Juncus and all of them display typical monocentric chromosomes, it seems that this kind of centromere is common in the genus and may represent the standard centromere organization for Juncus. If Juncus has monocentric chromosomes, there is no reason to hypothesize that other genera of Juncaceae for which centromeres have not been carefully investigated have holocentric chromosomes.

Evolution of Bird Sex Chromosomes Narrated by Repetitive Sequences: Unusual W Chromosome Enlargement in Gallinula melanops (Aves: Gruiformes: Rallidae)

2019 ◽  
Vol 158 (3) ◽  
pp. 152-159 ◽  
Author(s):  
Ricardo J. Gunski ◽  
Rafael Kretschmer ◽  
Marcelo Santos de Souza ◽  
Ivanete de Oliveira Furo ◽  
Suziane A. Barcellos ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
18S Rdna ◽  
Organizer Region ◽  
Repetitive Sequences ◽  
Nucleolar Organizer Region ◽  
Molecular Cytogenetics ◽  
5S Rdna ◽  
Nucleolar Organizer ◽  
W Chromosome ◽  
Rdna Sites

Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) by means of classical and molecular cytogenetics. The spot-flanked gallinule has 2n = 80 (11 pairs of macrochromosomes and 29 pairs of microchromosomes) with an unusual W chromosome that is larger than the Z. Besides being totally heterochromatic, it has a secondary constriction in its long arm corresponding to the nucleolar organizer region, as confirmed by both silver staining and mapping of 18S rDNA probes. This is an unprecedented fact among birds. Additionally, 18S rDNA sites were also observed in 6 microchromosomes, while 5S rDNA was found in just 1 microchromosomal pair. Seven out of the 11 used microsatellite sequences were found to be accumulated in microchromosomes, and 6 microsatellite sequences were found in the W chromosome. In addition to the involvement of heterochromatin and repetitive DNAs in the differentiation of the large W chromosome, the results also show an alternative scenario that highlights the plasticity that shapes the evolutionary history of bird sex chromosomes.

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽  
1999 ◽  
Vol 94 (2) ◽  
pp. 724-732 ◽  
Author(s):  
Palma Finelli ◽  
Sonia Fabris ◽  
Savina Zagano ◽  
Luca Baldini ◽  
Daniela Intini ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Cell Lines ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Translocation ◽  
Fish Analysis ◽  
Interphase Nuclei ◽  
Igh Locus ◽  
Normal Controls

Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

scholarly journals The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

2014 ◽  
Vol 17 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Yapan C.C. ◽  
Beyazyurek C. ◽  
Ekmekci C.G. ◽  
Kahraman S.
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Segregation Analysis ◽  
Paracentric Inversion ◽  
Clear Correlation ◽  
Fish Analysis ◽  
Chromosome 2 ◽  
Infertile Male ◽  
Sperm Fish ◽  
Meiotic Crossover

Abstract Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur during gametogenesis and cause genetically unbalanced sperm and subsequently unbalanced embryos. Here we present segregation analysis results of an infertile male with 46,XY,inv(2) (q21.2q37.3) using fluorescent in situ hybridization (FISH) on sperm cells. This is the largest paracentric inversion (PAI) reported so far in a meiotic segregation analysis study. Sperm FISH revealed 28.0% recombinant spermatozoa rate for chromosome 2, which was the highest rate in PAI carriers in the literature. Our results indicate a clear correlation between the size of the inverted segment and the frequency of the recombinant spermatozoa. The results of the FISH analysis with the information of unbalanced spermatozoa rate can provide accurate counseling on the genetic risk of infertility.

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