Constantinos G Broustas, Igor Shuryak, Axel J Duval, Sally A Amundson
Blood-based gene expression profiles that can reconstruct radiation exposure are being developed as a practical approach to radiation biodosimetry. However, age and sex could potentially limit the accuracy of the approach. In this study, we determined the impact of age on the peripheral blood cell gene expression profile of female mice exposed to radiation and identified differences and similarities with a previously obtained transcriptomic signature of male mice. Young (2 months) and old (24 months) female mice were irradiated with 4 Gy X-rays, total RNA was isolated from blood 24hr later and subjected to whole genome microarray analysis...
March 16, 2023: Cytogenetic and Genome Research
David J Bunyan, James I Hobbs, Philippa J Duncan-Flavell, Rachel J Howarth, Sarah Beal, Diana Baralle, Nicholas Simon Thomas
Transcription of SHOX is dependent upon the interaction of the gene with a complex array of flanking regulatory elements. Duplications that contain flanking regulatory elements but not the SHOX gene have been reported in individuals with SHOX haploinsufficiency syndromes, suggesting that alterations to the physical organisation or genomic architecture may affect SHOX transcription. Individuals with tall stature and an additional X or Y chromosome have an extra copy of both the SHOX gene and the entire SHOX regulatory region, so all three copies of SHOX can be expressed fully...
March 16, 2023: Cytogenetic and Genome Research
Yulin Zhou, Xingxiu Lu, Yanhong Zhang, Yunsheng Ge, Yasong Xu, Lili Wu, Yu Jiang
Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that the genetic background of affected fetuses is essential for predicting pregnancy outcomes. However, the detection performance of different genetic approaches for the etiological diagnosis of fetal CH remains unclear. In this study, we aimed to compare the diagnostic efficiency of karyotyping and chromosomal microarray analysis (CMA) in a local fetal CH cohort, and tried to propose an optimized testing strategy that may help improve the cost-effectiveness of disease management...
March 10, 2023: Cytogenetic and Genome Research
Juan Chen, Gui-Zhen Lyu, Fan Jiang, Victor Wei Zhang, Dong-Zhi Li
Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH, and chromosomal microarray [CMA]) have limitations, and many cryptic balanced chromosomal rearrangements are difficult to detect. We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.62-Mb duplication at 14q11.2 and a 5.09-Mb deletion at 21q11.2q21.1, while the couple seemed to have a normal karyotype. Combining the results of CMA, whole-genome sequencing (WGS) breakpoint analysis, Sanger sequencing, and FISH, we found that the father was a 46,XY,t(14;21)(q11...
March 9, 2023: Cytogenetic and Genome Research
Mustafa Gökoğlu, Nüket Yürür Kutlay, Şule Altıner
Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies, and recurrent miscarriages. Developmental disorders are an important health problem affecting 1-3% of children. The underlying etiology can be explained by CNV analysis in 10-20% of children who have unexplained intellectual disability, developmental delay, and congenital anomalies...
March 2, 2023: Cytogenetic and Genome Research
Qiqi Sun, Feng Liu, Xiaolong Mo, Bo Yao, Guanghai Liu, Shanshan Chen, Yanping Ren
Correct regulation of cohesin at chromosome arms and centromeres and accurate kinetochore-microtubule connections are significant for proper chromosome segregation. At anaphase of meiosis I, cohesin at chromosome arms is cleaved by separase, leading to the separation of homologous chromosomes. However, at anaphase of meiosis II, cohesin at centromeres is cleaved by separase, leading to the separation of sister chromatids. Shugoshin-2 (SGO2) is a member of the shugoshin/MEI-S332 protein family in mammalian cells, a crucial protein that protects centromeric cohesin from cleavage by separase and corrects wrong kinetochore-microtubule connections before anaphase of meiosis I...
March 2, 2023: Cytogenetic and Genome Research
Rachanee Parinayok, Prapatsorn Areesirisuk, Takol Chareonsirisuthigul, Warakorn Buchachat, Budsaba Rerkamnuaychoke
Abortion is a common pregnancy complication. Fetuses with several types of chromosomal abnormalities are aborted during the first trimester, while others have a better chance of surviving. This research aims to study and compare the incidence and types of fetal chromosomal abnormalities during the first trimester of Thai pregnant women between miscarriages and intrauterine survivals. Cytogenetic and BACs-on-Beads™ assays were assessed from 2010 to 2020 in Ramathibodi Hospital using first trimester samples of 265 chorionic villi as a retrospective study...
March 1, 2023: Cytogenetic and Genome Research
Gisele Amaro Teixeira, Gabriela de Figueiredo Jacintho, Hilton Jeferson Alves Cardoso de Aguiar, Denilce Meneses Lopes, Luísa Antônia Campos Barros
The fungus-farming ant genus Cyphomyrmex (subtribe Attina, clade Neoattina) comprises 23 described species that are widely distributed throughout the Neotropics. Species within Cyphomyrmex have taxonomic issues such as Cyphomyrmex rimosus (Spinola, 1851) which is likely a species complex. Cytogenetics is a useful tool for evolutionary studies and understanding species with dubious taxonomy. In this study, we characterized the karyotype of C. rimosus from Viçosa, Minas Gerais state, southeastern Brazil using classical and molecular cytogenetic techniques to enrich the chromosomal information about Cyphomyrmex...
February 27, 2023: Cytogenetic and Genome Research
Abigail Haggerty, Joanna Spaulding, Sara Fisher, Benjamin Byers, Nicolle Mahoney, Marilu Nelson, Pamela Althof, Bhavana Dave
Although Turner syndrome is most often sporadic, multigenerational recurrence has been reported more often in the offspring of women with mosaic or variant forms of Turner syndrome. We present a case in which natural conception in a woman with identified 45,X/46,XX mosaicism resulted in a fetus with a gain of a derivative X chromosome. The unexpected fetal finding prompted further cytogenetic evaluation of the patient and subsequent identification of an additional cell line with the same derivative X chromosome, not observed in the initial study...
February 14, 2023: Cytogenetic and Genome Research
Pratibha Kadam Amare, Shraddha Nikalje Khasnis, Pranita Hande, Hrushikesh Lele, Nishigandha Wable, Snehal Kaskar, Nikita Nikam Gujar, Nikhil Gardi, Aniket Prabhudesai, Karishma Todi, Rohit Waghole, Pritha Roy
Multiple Myeloma(MM) is genetically complex and heterogeneous neoplasm in which cytogenetics is major genetic factor which plays an important role in the risk stratification of disease. High risk MM based upon cytogenetic classification includes primary IGH translocations t(4;14), t(14;16), t(14;20), and secondary progressive aberrations such as gain/Amp(1q) , 1p deletion , del(17p) & hypodiploidy. Several studies have proved that interphase FISH can efficiently detect primary as well as secondary cryptic aberrations very efficiently in lowest 5%- 10% abnormal plasma cells population...
February 13, 2023: Cytogenetic and Genome Research
Emanuele G Coci, Ornella Galesi, Thomas Morgan, Sabrina Giglio, Elsebet Ostergaard, Maurizio Elia
Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unbalanced expression of long noncoding RNAs. Few studies have been performed on the clinical consequences of such unbalanced expression. Heterozygous deletions of NRXN1 have been well described to cause neuropsychological features. Heterozygous deletion of adjacent long noncoding RNA AK127244, either isolated or combined with partial NRXN1 deletion, was recently reported in association with neurodevelopmental delay...
February 9, 2023: Cytogenetic and Genome Research
Adriana García-Romero, Rosa María González-Arreola, César Borjas-Gutiérrez, María Teresa Magaña-Torres, Juan Ramón González-García
Acute promyelocytic leukemia (APL) is characterized by the chromosomal translocation t(15;17)(q24;q21), raising two hybrid genes: PML::RARA and RARA::PML. There is a biased clonal evolution in APL since imbalances affecting the der(15) chromosome (the one that carries the transforming PML::RARA gene) have never been reported; instead, imbalances of the der(17), mainly in form of an ider(17)(q10), have been repeatedly documented. We here present two cases with APL who acquired an ider(17)(q10) as a secondary chromosomal change...
February 1, 2023: Cytogenetic and Genome Research
Yue-Chuan Luo, Chen Chen, Dan-Dan Wu, Jia-Le Lu, Li-Na Sha, Xing Fan, Yi-Ran Cheng, Hou-Yang Kang, Yi Wang, Yong-Hong Zhou, Chang-Bing Zhang, Hai-Qin Zhang
Natural hybridization has been frequently observed in Triticeae; however, few studies have investigated the origin of natural intergeneric Triticeae hybrids. In the present study, we discovered three putative hybrid Triticeae plants in the Western Sichuan Plateau of China. Morphologically, the putative hybrids were intermediate between Kengyilia melanthera (2n = 6x = 42; StStYYPP) and Campeiostachys dahurica var. tangutorum (2n = 6x = 42; StStYYHH) with greater plant height and tiller number. Cytological analyses demonstrated that the hybrids were hexaploid with 42 chromosomes (2n = 6x = 42)...
February 1, 2023: Cytogenetic and Genome Research
Igor C Amorim, Rafaelle G C Costa, Liliane L Mota, Crislaine Xavier, Gabriel L Wallau, Rita C Moura
In Dichotomius genus, transposable elements (TE) have been related to chromosome remodeling, genomic evolution, and, possibly, to the speciation process. The objective of this study was to verify the interpopulational and interspecific conservation/variation of Tc1-Mariner elements (possibly autonomous) in Dichotomius species, aiming to identify possible contributions in the speciation process of this group. The analysis was performed on four species of Dichotomius, belonging to the Selenocopris subgenus. We verified the presence of the DsPogo_8 and DsTc1_5 elements by PCR and sequencing...
February 1, 2023: Cytogenetic and Genome Research
Jacqueline Smith, James M Alfieri, Nick Anthony, Peter Arensburger, Giridhar N Athrey, Jennifer Balacco, Adam Balic, Philippe Bardou, Paul Barela, Yves Bigot, Heath Blackmon, Pavel M Borodin, Rachel Carroll, Meya C Casono, Mathieu Charles, Hans Cheng, Maddie Chiodi, Lacey Cigan, Lyndon M Coghill, Richard Crooijmans, Neelabja Das, Sean Davey, Asya Davidian, Fabien Degalez, Jack M Dekkers, Martijn Derks, Abigail B Diack, Appolinaire Djikeng, Yvonne Drechsler, Alexander Dyomin, Olivier Fedrigo, Steven R Fiddaman, Giulio Formenti, Laurent A F Frantz, Janet E Fulton, Elena Gaginskaya, Svetlana Galkina, Rodrigo A Gallardo, Johannes Geibel, Almas Gheyas, Cyrill John P Godinez, Ashton Goodell, Jennifer A M Graves, Daren K Griffin, Bettina Haase, Jian-Lin Han, Olivier Hanotte, Lindsay J Henderson, Zhuo-Cheng Hou, Kerstin Howe, Lan Huynh, Evans Ilatsia, Erich Jarvis, Sarah M Johnson, Jim Kaufman, Terra Kelly, Steve Kemp, Colin Kern, Jacob H Keroack, Christophe Klopp, Sandrine Lagarrigue, Susan J Lamont, Margaret Lange, Anika Lanke, Denis M Larkin, Greger Larson, John King N Layos, Ophélie Lebrasseur, Lyubov P Malinovskaya, Rebecca J Martin, Maria Luisa Martin Cerezo, Andrew S Mason, Fiona M McCarthy, Michael J McGrew, Jacquelyn Mountcastle, Christine Kamidi Muhonja, William Muir, Kévin Muret, Terence Murphy, Ismael Ng'ang'a, Masahide Nishibori, Rebecca E O'Connor, Moses Ogugo, Ron Okimoto, Ochieng Ouko, Hardip R Patel, Francesco Perini, María Ines Pigozzi, Krista C Potter, Peter D Price, Christian Reimer, Edward S Rice, Nicolas Rocos, Thea F Rogers, Perot Saelao, Jens Schauer, Robert Schnabel, Valerie Schneider, Henner Simianer, Adrian Smith, Mark P Stevens, Kyle Stiers, Christian Keambou Tiambo, Michele Tixier-Boichard, Anna A Torgasheva, Alan Tracey, Clive A Tregaskes, Lonneke Vervelde, Ying Wang, Wesley C Warren, Paul D Waters, David Webb, Steffen Weigend, Anna Wolc, Alison E Wright, Dominic Wright, Zhou Wu, Masahito Yamagata, Chentao Yang, Zhong-Tao Yin, Michelle C Young, Guojie Zhang, Bingru Zhao, Huaijun Zhou
January 30, 2023: Cytogenetic and Genome Research
Felipe Cordeiro Dias, Rogério Fernandes de Souza, Larissa Forim Pezenti, Jaqueline Fernanda Dionisio, João Antônio Marques Paulino, Carlos Roberto Maximiano da Silva, Daniel Ricardo Sosa-Gómez, Renata da Rosa
Brazil is the largest producer of soybeans in the world. The vast extent of soybean plantations across the Brazilian territory exposes this crop to attack by several insects, including the velvetbean caterpillar, Anticarsia gemmatalis. One of the alternatives used to control this insect are the toxins produced by Bacillus thuringiensis (Bt). However, in some cases, resistance to these toxins has been reported in the laboratory. Despite the ecological and economic impact of the velvetbean caterpillar, there are few studies on the genetic structure of this species, especially with regard to microsatellites...
January 23, 2023: Cytogenetic and Genome Research
Bernard Dutrillaux, Anne-Marie Dutrillaux, Mélanie McClure, Marc Gèze, Marianne Elias, Bertrand Bed'hom
Mitotic chromosomes of butterflies, which look like dots or short filaments in most published data, are generally considered to lack localised centromeres and thus to be holokinetic. This particularity, observed in a number of other invertebrates, is associated with meiotic particularities known as "inverted meiosis," in which the first division is equational, i.e., centromere splitting-up and segregation of sister chromatids instead of homologous chromosomes. However, the accurate analysis of butterfly chromosomes is difficult because (1) their size is very small, equivalent to 2 bands of a mammalian metaphase chromosome, and (2) they lack satellite DNA/heterochromatin in putative centromere regions and therefore marked primary constrictions...
January 23, 2023: Cytogenetic and Genome Research
Kiko Shibata, Masamichi Kuroda, Etsuro Yamaha, Katsutoshi Arai, Takafumi Fujimoto
There are 2 genetically divergent groups in the dojo loach Misgurnus anguillicaudatus: A and B. Although most wild-type diploids reproduce sexually, clonal diploids (clonal loach) reproduce gynogenetically in certain areas. Clonal loaches produce unreduced isogenic eggs by premeiotic endomitosis, and such diploid eggs develop gynogenetically following activation by the sperm of sympatric wild-type diploids. These clonal loaches have presumably arisen from past hybridization events between 2 different ancestors...
January 20, 2023: Cytogenetic and Genome Research
Anuhya Anne, Lov Kumar, Revanth K Salavadi, Pradeep S Anand, Swapna Nuguri, Sukhvinder Bindra, Kanapuram V R Reddy, Madhusudhana R Gummanur, Kommu N Mohan
Oral leukoplakia (OL), an oral potentially malignant disorder begins with a hyperplastic/hyperkeratotic stage at which no genome-scale somatic single nucleotide variant profiles have been described so far. We performed exome sequencing of five cases at this stage with no evidence of dysplasia to identify genetic alterations (exon-level copy number alterations, indels, and single nucleotide variants), their association with transcript levels and relationship with oral cancer susceptibility. Pathway enrichment analysis of genes associated with tobacco chewing and age-related mutation signatures, transcripts with variants predicted to be functionally damaging and those with significantly altered levels have all indicated the involvement of focal adhesion, ECM-receptor interactions, regulation of cytoskeleton and DNA repair...
January 11, 2023: Cytogenetic and Genome Research
Eikichi Kamimura, Yoshinobu Uno, Kazuhiko Yamada, Chizuko Nishida, Yoichi Matsuda
The greater long-tailed hamster (Tscherskia triton, Cricetinae) has a unique karyotype (2n = 28), containing 11 pairs of acrocentric chromosomes with large C-band-positive centromeric heterochromatin blocks. To understand the origin and evolutionary process of heterochromatin in this species, we isolated novel families of chromosome site-specific highly repetitive DNA sequences from TaqI-digested genomic DNA and then characterized them by chromosome in situ and filter hybridization. The TaqI-families of repetitive sequences were classified into 2 types by their genome organization and chromosomal distribution: the 110-bp repeated sequence organized in large tandem arrays (as satellite DNA), localized to centromeric C-positive heterochromatin of acrocentric autosomes (chromosomes 1-11) and submetacentric X chromosome, and the 405-bp repeated sequence that was composed of 30-32-bp internal repeats, distributed in the pericentromeric region on the short arms of X and Y chromosomes...
December 19, 2022: Cytogenetic and Genome Research
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