Recovery of a telomere-truncated chromosome via a compensating translocation in maize

Genome ◽  
2011 ◽  
Vol 54 (3) ◽  
pp. 184-195 ◽  
Author(s):  
Robert T. Gaeta ◽  
Tatiana V. Danilova ◽  
Changzeng Zhao ◽  
Rick E. Masonbrink ◽  
Morgan E. McCaw ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Transgene Expression ◽  
De Novo ◽  
Extra Chromosome ◽  
Single Gene ◽  
B Chromosomes ◽  
Chromosome 1 ◽  
Chromosome 6

Maize-engineered minichromosomes are easily recovered from telomere-truncated B chromosomes but are rarely recovered from A chromosomes. B chromosomes lack known genes, and their truncation products are tolerated and transmitted during meiosis. In contrast, deficiency gametes resulting from truncated A chromosomes prevent their transmission. We report here a de novo compensating translocation that permitted recovery of a large truncation of chromosome 1 in maize. The truncation (trunc-1) and translocation with chromosome 6 (super-6) occurred during telomere-mediated truncation experiments and were characterized using single-gene fluorescent in situ hybridization (FISH) probes. The truncation contained a transgene signal near the end of the broken chromosome and transmitted together with the compensating translocation as a heterozygote to approximately 41%–55% of progeny. Transmission as an addition chromosome occurred in ~15% of progeny. Neither chromosome transmitted through pollen. Transgene expression (Bar) cosegregated with trunc-1 transcriptionally and phenotypically. Meiosis in T1 plants revealed eight bivalents and one tetravalent chain composed of chromosome 1, trunc-1, chromosome 6, and super-6 in diplotene and diakinesis. Our data suggest that de novo compensating translocations allow recovery of truncated A chromosomes by compensating deficiency in female gametes and by affecting chromosome pairing and segregation. The truncated chromosome can be maintained as an extra chromosome or together with the super-6 as a heterozygote.

scholarly journals Associations between Amplification (1q) and Prior Cancer in a Real-World De Novo Myeloma Cohort

2021 ◽  
Author(s):  
Elizabeth B Lamont ◽  
Andrew J Yee ◽  
Stuart L Goldberg ◽  
David S Siegel ◽  
Andrew D Norden
Keyword(s):  
Real World ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Chromosome 1 ◽  
Second Malignancies ◽  
Cancer History ◽  
Screening Strategies ◽  
Cytogenetic Testing

Abstract Genomic biomarkers inform treatment in multiple myeloma (MM) making patient clinical data a potential window into MM biology. We evaluated de novo MM patients for associations between specific MM cytogenetic patterns and prior cancer history. Analyzing a MM real-world dataset (RWD), we identified a cohort of 1,769 patients with fluorescent in-situ hybridization (FISH) cytogenetic testing at diagnosis. Fully 241 patients (0.14) had histories of prior cancer(s). Amplification of the long arm of chromosome 1 [amp(1q)] varied by prior cancer history (0.31 with prior cancer vs 0.24 without; p = .02). No other MM translocations, amplifications, or deletions were associated with prior cancers. Amp(1q) and cancer history remained strongly associated in a logistic regression adjusting for patient demographic and disease attributes. The results merit follow-up regarding carcinogenic treatment effects and screening strategies for second malignancies. Broadly the findings suggest analyses of patient-level phenotypic-genomic RWD may accelerate cancer research through hypothesis generating studies.

scholarly journals Satellite DNAs Unveil Clues about the Ancestry and Composition of B Chromosomes in Three Grasshopper Species

Genes ◽  
2018 ◽  
Vol 9 (11) ◽  
pp. 523 ◽  
Author(s):  
Diogo Milani ◽  
Vanessa Bardella ◽  
Ana Ferretti ◽  
Octavio Palacios-Gimenez ◽  
Adriana Melo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
B Chromosome ◽  
B Chromosomes ◽  
Satellite Dnas ◽  
Grasshopper Species ◽  
Repetitive Dnas ◽  
Origin And Evolution ◽  
Chromosomal Position

Supernumerary (B) chromosomes are dispensable genomic elements occurring frequently among grasshoppers. Most B chromosomes are enriched with repetitive DNAs, including satellite DNAs (satDNAs) that could be implicated in their evolution. Although studied in some species, the specific ancestry of B chromosomes is difficult to ascertain and it was determined in only a few examples. Here we used bioinformatics and cytogenetics to characterize the composition and putative ancestry of B chromosomes in three grasshopper species, Rhammatocerus brasiliensis, Schistocerca rubiginosa, and Xyleus discoideus angulatus. Using the RepeatExplorer pipeline we searched for the most abundant satDNAs in Illumina sequenced reads, and then we generated probes used in fluorescent in situ hybridization (FISH) to determine chromosomal position. We used this information to infer ancestry and the events that likely occurred at the origin of B chromosomes. We found twelve, nine, and eighteen satDNA families in the genomes of R. brasiliensis, S. rubiginosa, and X. d. angulatus, respectively. Some satDNAs revealed clustered organization on A and B chromosomes varying in number of sites and position along chromosomes. We did not find specific satDNA occurring in the B chromosome. The satDNAs shared among A and B chromosomes support the idea of putative intraspecific ancestry from small autosomes in the three species, i.e., pair S11 in R. brasiliensis, pair S9 in S. rubiginosa, and pair S10 in X. d. angulatus. The possibility of involvement of other chromosomal pairs in B chromosome origin is also hypothesized. Finally, we discussed particular aspects in composition, origin, and evolution of the B chromosome for each species.

scholarly journals De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

2008 ◽  
Vol 2008 ◽  
pp. 1-5 ◽  
Author(s):  
Nadia Bayou ◽  
Ridha M'rad ◽  
Ahlem Belhaj ◽  
Hussein Daoud ◽  
Lamia Ben Jemaa ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Causal Relationship ◽  
Chromosomal Aberrations ◽  
Autistic Disorder ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Balanced Translocation ◽  
Bac Clones ◽  
High Incidence

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.

The Onset of de novo Hepatocellular Carcinoma after Liver Transplantation can be both of Donor and Recipient origin. A Case Report

2015 ◽  
Vol 24 (3) ◽  
pp. 387-389 ◽  
Author(s):  
Mariarosa Tamè ◽  
Claudio Calvanese ◽  
Alessandro Cucchetti ◽  
Elisa Gruppioni ◽  
Antonio Colecchia ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Transplantation ◽  
In Situ Hybridization ◽  
Sclerosing Cholangitis ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Rare Event ◽  
Microsatellite Analysis ◽  
De Novo Hepatocellular Carcinoma

The occurrence of de novo hepatocellular carcinoma after liver transplantation is a rare event with only few cases reported in the literature. In a post liver transplantation setting distinguishing between a de novo hepatocellular carcinoma from recurrence should be tested with molecular analysis such as fluorescent in situ hybridization (for sex chromosomes) or microsatellite analysis. Nevertheless, a certain degree of epithelial chimerism between recipient and donor tissues could be responsible for the development of de novo hepatocellular carcinoma of recipient origin. We report two cases of de novo hepatocellular carcinoma after liver transplantation. The first one occurred in a patient receiving transplantation for hepatitis C related cirrhosis and hepatocellular carcinoma. A de novo hepatocellular carcinoma developed five years after transplantation and microsatellite analysis revealed the donor origin of the neoplasia. The second one occurred in a patient who received transplantation for secondary sclerosing cholangitis. Hepatocellular carcinoma was found six years after transplantation. Both microsatellite analysis and fluorescent in situ hybridization revealed the recipient origin of the tumor, potentially due to tissue chimerism.

De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization

1995 ◽  
Vol 57 (4) ◽  
pp. 579-580 ◽  
Author(s):  
John E. Wiley ◽  
Janice C. Stout ◽  
Shane M. Palmer ◽  
Theodore Kushnick
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
De Novo

Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

1991 ◽  
Vol 56 (3-4) ◽  
pp. 129-131 ◽  
Author(s):  
F. Speleman ◽  
M. Mannens ◽  
B. Redeker ◽  
M. Vercruyssen ◽  
P. Van Oostveldt ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Southern Hybridization ◽  
De Novo

Highly repetitive sequences in B chromosomes of Secale cereale revealed by fluorescence in situ hybridization

Genome ◽  
1994 ◽  
Vol 37 (4) ◽  
pp. 709-712 ◽  
Author(s):  
Angeles Cuadrado ◽  
Nicolas Jouve
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Secale Cereale ◽  
Fluorescent In Situ Hybridization ◽  
Repetitive Sequences ◽  
5S Rdna ◽  
B Chromosomes ◽  
Multigene Families ◽  
Hybridization Probes

An analysis of the presence and distribution of the rye and wheat repeated sequences in rye B chromosomes was carried out by fluorescent in situ hybridization. Probes used consisted of three highly repetitive sequences from rye (pSc119.2, pSc74, and pSc34) and the multigene families for the 25S–5.8S–18S and 5S rDNA from wheat (pTa71 and pTa794, respectively). pSc74 and pSc119.2 showed hybridization signals in the telomeric regions of rye B chromosomes. The remaining DNA clones did not hybridize to the B chromosomes.Key words: Secale cereale, rye, repetitive DNA, fluorescence in situ hybridization, B chromosomes.

Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization

1995 ◽  
Vol 56 (4) ◽  
pp. 398-402 ◽  
Author(s):  
Jian Zhao ◽  
Patricia L. Gordon ◽  
R. Sid Wilroy ◽  
Paula R. Martens ◽  
Jack Tarleton ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Microsatellite Polymorphism
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