scholarly journals Interstitial Telomeric-like Repeats (ITR) in Seed Plants as Assessed by Molecular Cytogenetic Techniques: A Review

Plants ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 2541
Author(s):  
Alexis J. Maravilla ◽  
Marcela Rosato ◽  
Josep A. Rosselló
Keyword(s):  
Population Level ◽  
Longitudinal Distribution ◽  
Seed Plants ◽  
Evolutionary Perspective ◽  
Molecular Cytogenetic ◽  
Taxonomic Relatedness ◽  
Plant Chromosomes ◽  
Cytogenetic Studies ◽  
Molecular Cytogenetic Techniques ◽  
Evolutionary Lineages

The discovery of telomeric repeats in interstitial regions of plant chromosomes (ITRs) through molecular cytogenetic techniques was achieved several decades ago. However, the information is scattered and has not been critically evaluated from an evolutionary perspective. Based on the analysis of currently available data, it is shown that ITRs are widespread in major evolutionary lineages sampled. However, their presence has been detected in only 45.6% of the analysed families, 26.7% of the sampled genera, and in 23.8% of the studied species. The number of ITR sites greatly varies among congeneric species and higher taxonomic units, and range from one to 72 signals. ITR signals mostly occurs as homozygous loci in most species, however, odd numbers of ITR sites reflecting a hemizygous state have been reported in both gymnosperm and angiosperm groups. Overall, the presence of ITRs appears to be poor predictors of phylogenetic and taxonomic relatedness at most hierarchical levels. The presence of ITRs and the number of sites are not significantly associated to the number of chromosomes. The longitudinal distribution of ITR sites along the chromosome arms indicates that more than half of the ITR presences are between proximal and terminal locations (49.5%), followed by proximal (29.0%) and centromeric (21.5%) arm regions. Intraspecific variation concerning ITR site number, chromosomal locations, and the differential presence on homologous chromosome pairs has been reported in unrelated groups, even at the population level. This hypervariability and dynamism may have likely been overlooked in many lineages due to the very low sample sizes often used in cytogenetic studies.

High resolution molecular cytogenetic techniques in plants: Pachytene- and fibre-FISH

2012 ◽  
Vol 60 (2) ◽  
pp. 157-165
Author(s):  
G. Linc ◽  
M. Molnár-Láng
Keyword(s):  
Dna Sequences ◽  
Physical Map ◽  
Single Copy ◽  
Molecular Cytogenetic ◽  
Plant Chromosomes ◽  
Powerful Research Tool ◽  
Increased Sensitivity ◽  
Molecular Cytogenetic Techniques ◽  
Copy Dna ◽  
Fibre Fish

Fluorescence in situ hybridization (FISH) is the most versatile and accurate molecular cytogenetic technique for determining euchromatic-heterochromatic boundaries and the locations of repetitive and single-copy DNA sequences and of chromosome-specific BAC clones on chromosomes. The combination of cytogenetic and genetic methods yields a highresolution physical map. FISH allows direct mapping of specific DNA sequences inside the cell (interphase nuclei), along meiotic pachytene chromosomes and isolated chromatin (DNA fibres). The increased sensitivity of the technique and its ability to detect gene locations provide a powerful research tool for genetic and pre-breeding studies. FISH-based physical mapping plays an important role and is increasingly used for studies at the cytological level on the chromatin organization that controls gene expression and regulation. The present minireview describes some of the benefits of alternative FISH-based techniques and their application for studying plant chromosomes and genomes.

scholarly journals Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

2011 ◽  
Vol 28 (7) ◽  
pp. 621-626
Author(s):  
Monica Martinez-Garcia ◽  
Eva Ainse ◽  
Maria García-Hoyos ◽  
Ana Bustamante ◽  
Rocio Cardero ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Monosomy 21 ◽  
Molecular Cytogenetic Techniques

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

scholarly journals Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report

2020 ◽  
Author(s):  
Shuang Chen ◽  
Qi Xi ◽  
Xinyue Zhang ◽  
Yuting Jiang ◽  
Leilei Li ◽  
...  
Keyword(s):  
Case Report ◽  
Molecular Cytogenetic ◽  
Cytogenetic Studies ◽  
Male Carrier

GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies

2017 ◽  
Vol 152 (1) ◽  
pp. 33-37
Author(s):  
Roberto R. Capela de Matos ◽  
Daniela R. Ney Garcia ◽  
Elaine Cifoni ◽  
Moneeb A.K. Othman ◽  
Mariana Tavares de Souza ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
High Resolution ◽  
Myeloid Leukemia ◽  
Molecular Cytogenetic ◽  
Severe Diarrhea ◽  
Molecular Abnormalities ◽  
Cytogenetic Studies ◽  
Novel Complex ◽  
Ploidy Changes ◽  
Acute Myeloid

Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases. Here, we describe a 7- month-old girl with a history of fever and severe diarrhea, and a physical examination remarkable for pallor and hepatosplenomegaly. A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23.3),dup(13)(q31q34),+14,+19,+21,+22 was characterized by high-resolution molecular cytogenetic approaches. Fluorescence in situ hybridization, multiplex-FISH, and multicolor chromosome banding were applied, revealing 2 reverse MLLT3-KMT2A fusions and a duplication of the GAS6 oncogene. Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes.

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