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Radiation biodosimetry: Current Status and Future Initiatives. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-11-29 Adayabalam S Balajee,Helen C Turner,Ruth C Wilkins
None.
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Comparative cytogenetic analysis of diploid and triploid pacific abalone, Haliotis discus hannai. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-11-13 Jianpeng Zhang,Yi Wang,Ying Lu,Weiwei You,Xuan Luo,Caihuan Ke
Cytogenetic analysis of triploid Haliotis discus hannai larvae (produced by chemical treatment) and its diploids were performed. The results showed that triploid H. discus hannai had a chromosome number of 3n = 54, consisting of 30 metacentric (m) and 24 submetacentric (sm) chromosomes, while the diploids had a chromosome number of 2n = 36, consisting of 20 metacentric (m) and 16 submetacentric (sm)
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Insights on the radiation-induced adaptive response at the cellular level and its implications in cancer therapy. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-31 Aishwarya Thathamangalam Ananthanarayanan,Venkateswarlu Raavi,Satish Srinivas Kondaveeti,Ilangovan Ramachandran,Venkatachalam Perumal
BACKGROUND Development of resistance upon exposure to small doses of ionizing radiation followed by higher doses is known as radiation-induced adaptive response (RIAR). Traditionally, the induction of the RIAR phenomenon at the cellular level has been examined in cell lines, animal models, and epidemiological studies where people live in high natural background radiation. SUMMARY The primary intention
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EPIGENETIC CLOCKS: IN AGING-RELATED AND COMPLEX DISEASES. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-28 Katia Margiotti,Francesca Monaco,Marco Fabiani,Alvaro Mesoraca,Claudio Giorlandino
There is evidence that complex disease and mortality are associated with DNA methylation (DNAm) and age acceleration. Numerous epigenetic clocks, including Horvath, Hannum, DNA PhenoAge, DNA GrimAge, and DunedinPoAm continue to be developed in this young scientific field. The most well-known epigenetic clocks are presented here, along with information about how they relate to chronic disease. We examined
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The applicability of scoring calyculin A-induced premature chromosome condensation (PCC) objects for dose assessment including for radiotherapy patients. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-25 Mingzhu Sun,Jayne Moquet,David Lloyd,Stephen Barnard,Selvakumar Anbalagan,Harriet Steel,Aurore Sommer,Lone Gothard,Navita Somaiah,Elizabeth Ainsbury
As an extension to a previous study, a linear calibration curve covering doses from 0 to 10 Gy was constructed and evaluated in the present study using calyculin A-induced premature chromosome condensation (PCC) by scoring excess PCC objects. The main aim of this study was to assess the applicability of this PCC assay for doses below 2 Gy that are critical for triage categorisation. Two separate blind
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A novel partial deletion of the TBL1XR1 gene detected using SNP array in a patient with motor delay, growth failure and Klinefelter syndrome. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-16 Elena García-Payá,Paula Sirera Sirera,Isabel Huertas-García,Sofía Daniela Hernández Romero,Julia Olivas García
INTRODUCTION Co-existence pathogenic copy number variation with aneuploidy is a rare phenomenon. Whole TBL1XR1 gene deletions are described and associated with autosomal dominant intellectual development disorder-41 (#616944). However, the phenotypical expression of the TBL1XR1 partial deletion is poorly described. CASE PRESENTATION We describe the case of a male, aged 18 months, who presented delayed
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Assessment of micronuclei frequency in the peripheral blood of adult and pediatric patients receiving fractionated total body irradiation. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-04 Karthik Kanagaraj,Michelle A Phillippi,Pratyush Narayan,Barbara Szolc,Jay R Perrier,Amanda McLane,Suzanne L Wolden,Christopher A Barker,Qi Wang,Sally A Amundson,David J Brenner,Helen C Turner
The cytokinesis-block micronucleus (CBMN) assay is an established method for assessing chromosome damage in human peripheral blood lymphocytes resulting from exposure to genotoxic agents such as ionizing radiation. The objective of this study is to measure cytogenetic DNA damage and hematology parameters in vivo based on MN frequency in peripheral blood lymphocytes (PBLs) from adult and pediatric leukemia
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The types and frequencies of X chromosome abnormalities in women with reproductive problems. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-10-03 Elisavet Kouvidi,Haralambia Tsarouha,Sophia Zachaki,Christina Katsidi,Hara Tsimela,Amelia Pantou,Emmanuel Kanavakis,Ariadni Mavrou
X chromosome architecture and integrity are essential for normal ovarian function. Both numerical and structural X chromosome abnormalities play an important role in female infertility. This study aims to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems. 2936 women (average age: 37.5 years) were enrolled
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The NIAID/RNCP Biodosimetry Program: An Overview. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-09-22 Merriline M Satyamitra,David R Cassatt,Olivia Molinar-Inglis,Carmen I Rios,Lanyn P Taliaferro,Thomas A Winters,Andrea L DiCarlo
Established in 2004, the Radiation and Nuclear Countermeasures Program (RNCP), within the National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) has the central mission to advance medical countermeasure mitigators/therapeutics, and biomarkers and technologies to assess, triage, and inform medical management of patients experiencing acute radiation syndrome
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Diversity and Evolution of Highly Repetitive DNA Sequences Constituting Chromosome Site-Specific Heterochromatin in Two Gerbillinae Species. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-09-14 Yoshinobu Uno,Kazumi Matsubara,Jun Inoue,Johji Inazawa,Akio Shinohara,Chihiro Koshimoto,Kenji Ichiyanagi,Yoichi Matsuda
Constitutive heterochromatin, consisting of repetitive sequences, diverges very rapidly; therefore, its nucleotide sequences and chromosomal distributions are often largely different, even between closely related species. The chromosome C-banding patterns of two Gerbillinae species, Meriones unguiculatus and Gerbillus perpallidus, vary greatly, even though they belong to the same subfamily. To understand
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Retrospective evaluation of cytogenetic effects induced by internal radioiodine exposure: A 27-year follow-up study. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-12 Gordon K Livingston,Terri L Ryan,Maria B Escalona,Alvis E Foster,Adayabalam S Balajee
Radioiodine (131I) is widely used in the treatment of hyperthyroidism and as an effective ablative therapy for differentiated thyroid cancer (DTC). Radioiodine (131I) constitutes 90% of the currently used therapies in the field of nuclear medicine. Here, we report the cytogenetic findings of a long-term follow up study of 27 years on a male patient who received two rounds of radioiodine treatment within
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Comparison of isolated lymphocyte and whole blood based CBMN assays for radiation triage. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-12 Antonella Bertucci,Ruth C Wilkins,Sylvie Lachapelle,Helen C Turner,David J Brenner,Guy Garty
Following a mass-casualty nuclear/radiological event, there will be an important need for rapid and accurate estimation of absorbed dose for biological triage. The cytokinesis-block micronucleus (CBMN) assay is an established and validated cytogenetic biomarker used to assess DNA damage in irradiated peripheral blood lymphocytes. Here, we describe an intercomparison experiment between two biodosimetry
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Y Chromosome Genomic Variations and Biological Significance in Human Diseases and Health. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-10 Yoko Kuroki,Maki Fukami
The Y chromosome is a haploid genome unique to males with no genes essential for life. It is easily transmitted to the next generation without being repaired by recombination, even if a major genomic structural alteration occurs. On the other hand, the Y chromosome genome is basically a region transmitted only from father to son, reflecting a male-specific inheritance between generations. The Y chromosome
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Simultaneous EYFP-CENH3/H2B-DsRed Expression Is Impaired Differentially in Meristematic and Differentiated Nuclei of Arabidopsis Double Transformants. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-08 Veit Schubert,Andrea Weißleder,Inna Lermontova
Fluorescence live-cell microscopy is important in cell biology to perform artifact-free investigations. To analyze the dynamics of chromatin and centromeres at different stages of the cell cycle in nuclei and chromosomes, we performed simultaneous EYFP-CENH3/H2B-DsRed and single H2B-YFP transformations in Arabidopsis wild-type and cohesin T-DNA mutants. All constructs were under the control of the
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Supernumerary B Chromosomes of Tetragonisca fiebrigi Share Repeat Content with Standard Chromosome Set of both T. fiebrigi and Tetragonisca angustula (Apidae: Meliponini). Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-05 Marina Souza Cunha,Camila Moura Novaes,Jaqueline Amorim Pereira,Martinha Mapingala Capoco,Tânia Maria Fernandes-Salomão,Denilce Meneses Lopes
The stingless bees Tetragonisca angustula and Tetragonisca fiebrigi are widely distributed in Brazil, and both are commonly known as "jataí." Our goal was to investigate the possible origin of the B chromosomes in T. fiebrigi, a cytotaxonomic trait that differentiates T. fiebrigi from T. angustula. We analyzed diploid chromosome number (2n), B chromosome incidence, patterns of constitutive heterochromatin
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A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-03 Haiying Cheng,Pu Miao,Ye Wang,Yufan Guo,Liuyan Gao,Yuting Lou,Fan Yang,Mengmeng Liang,Jianhua Feng
Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and developmental delay or regression. To date, limited studies have reported DEEs driven by FGF13. Here, we reported a girl with developmental and epileptic encephalopathy 90 caused by variant of FGF13.
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Application of the cytokinesis-block micronucleus assay for high dose exposures using imaging flow cytometry. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-08-01 Lindsay A Beaton-Green,Jessica M Mayenburg,Leonora Marro,Eman Hassan,Sarita Cuadros Sanchez,Riham Darwish,Sylvie Lachapelle,Nadine Adam,Julie J Burtt,Cyndi Van Den Hanenberg,Matthew A Rodrigues,Qi Wang,David J Brenner,Helen C Turner,Ruth Wilkins
The cytokinesis-block micronucleus (CBMN) assay is a well-established method to assess radiation-induced genetic damage in human cells. This assay has been adapted to imaging flow cytometry (IFC), allowing automated analysis of many cells, and eliminating the need to create microscope slides. Furthermore, to improve the efficiency of assay performance, a small-volume method previously developed was
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Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-07-27 Xiaolan Fang,Benjamin Hilton,Katie Clarkson,R Curtis Rogers,Richard Schroer,Anna Childers,Wesley G Patterson,Jessica M Davis,David B Everman,Barbara R DuPont
Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most of the reported cases involving trisomy 2p include additional copy number variants (CNVs) in other regions of the genome and are usually small in size. Little is known about the clinical
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Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-07-21 Tatiana Mozer Joaquim,Scott David Roy,Clarissa Gondim Picanço de Albuquerque,Carlos Henrique Paiva Grangeiro,Jeremy A Squire,Maisa Yoshimoto,Lucia Martelli
Intrachromosomal insertions are complex structural rearrangements that are challenging to interpret using classical cytogenetic methods. We report a male patient carrying a recombinant X chromosome derived from a maternally inherited intrachromosomal insertion. The patient exhibited developmental delay, intellectual disability, behavioral disorder, and dysmorphic facial features. To accurately identify
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Exploration of Multi-Gene DNA Barcode Markers to Reveal the Broad Genetic Diversity of Field Ticks (Acari: Ixodidae) in a Tropical Environment of Hainan Island, China. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-29 Yajun Lu,Yae Zhao,Li Hu,Wanyu Zhang,Yunyun Xie,Shi Cheng,Bin Zheng,Qianfeng Xia
Ticks are hematophagous arthropods and obligate ectoparasites of humans and other animals. This study focused on the molecular discrimination of ticks in the tropical environment of Hainan according to multi-gene DNA barcode markers with the expectation of accurately distinguishing species. A total of 420 ticks, including 49 adult ticks, 203 nymphal ticks, and 168 larval ticks, were collected in the
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Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-27 Elisabet Lloveras,Cristina Pérez,Begoña Mendez,Susana Martin,Claudia Alves,Margarida Reis-Lima
Optical genome mapping (OGM) appears as a new tool for matching standard cytogenetic methods (karyotype and microarray) into a single assay. The chromosomal region 11p15.5 harbours two differentially methylated regions, the imprinting centre regions 1 and 2 (ICR1, ICR2). Disturbances in both regions alter human growth and are associated with two imprinting disorders, Beckwith-Wiedemann (BWS) and Silver-Russell
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Paper-based vertical flow immunoassay for the point-of-care multiplex detection of radiation dosimetry genes. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-27 Jerome Lacombe,Alexander J Summers,Ashkan Khanishayan,Yasaman Khorsandian,Isabella Hacey,Wyatt Blackson,Frederic Zenhausern
In a nuclear or radiological incident, first responders must quickly and accurately measure radiation exposure among civilians, as medical countermeasures are radiation dose-dependent and time-sensitive. Although several approaches have been explored to measure absorbed radiation dose, there is an important need to develop point-of-care (POC) bioassay devices that can be used immediately to triage
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Sex as a factor in murine radiation research: implications for countermeasure development. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-22 Gregory P Holmes-Hampton,Vidya P Kumar,Kaylee Valenzia,Sanchita P Ghosh
There is an increased threat of exposure to ionizing radiation, in the event of such exposure the availability of medical countermeasures will be vital to ensure the protection of the population. Effective countermeasures should be efficacious across a varied population and most importantly amongst both males and females. Radiation research must be conducted in animal models which act as a surrogate
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Biomarkers for biodosimetry and their role in predicting radiation injury. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-07 Molykutty Aryankalayil,Michelle A Bylicky,Sunita Chopra,Juan Dalo,Kevin Scott,Yuki Ueda,C Norman Coleman
Radiation-related normal tissue injury sustained during cancer radiotherapy or in a radiological or mass casualty nuclear incident is a major health concern. Reducing the risk and mitigating consequences of radiation injury could have a broad impact on cancer patients and citizens. Efforts to discover biomarkers that can determine radiation dose, predict tissue damage, and aid medical triage are underway
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The Neo-X Does Not Form a Barr Body but Shows a Slightly Condensed Structure in the Okinawa Spiny Rat (Tokudaia muenninki). Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-06-02 Ryoma Kudo,Ikuya Yoshida,Luisa Matiz Ceron,Shusei Mizushima,Yoko Kuroki,Takamichi Jogahara,Asato Kuroiwa
X chromosome inactivation (XCI) is an essential mechanism for gene dosage compensation between male and female cells in mammals. The Okinawa spiny rat (Tokudaia muenninki) is a native rodent in Japan with XX/XY sex chromosomes, like most mammals; however, the X chromosome has acquired a neo-X region (Xp) by fusion with an autosome. We previously reported that dosage compensation has not yet evolved
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Candidate gene expression in regional population and its relevance for radiation triage. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-05-30 Nandhini Kannan,Teena Koshy,Venkateswarlu Raavi,Emmanuel Bhaskar,Swathy Moorthy,Venkata Sai Pulivadula Mohanarangam,Satish Srinivas Kondaveeti,Shangamithra Visweswaran,Venkatachalam Perumal
Quantification of gene expression signatures has been substantiated as a potential and rapid marker for radiation triage and biodosimetry during nuclear emergencies. Similar to the established biodosimetry assays, the gene expression assay has drawbacks such as being highly dynamic and transient, not specific to ionizing radiation, and also influenced by confounding factors such as gender, health status
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Low-Level Germline 48,XYY,+21 Mosaicism Associated with Transient Abnormal Myelopoiesis in a Phenotypically Normal Neonate. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-05-27 Kenichiro Kobayashi,Atsushi Iwai,Kuniaki Tanaka,Shumpei Mizuta,Saya Yoshida,Toshiro Maihara,Yoshinobu Nishida,Takahito Wada,Ikuya Usami,Toshio Heike
Transient abnormal myelopoiesis (TAM) is a unique neonatal leukemoid reaction caused by a pathognomonic GATA1 mutation in conjunction with the gene dosage effect of trisomy 21, which is either of germline or somatic origin. We encountered a 48,XYY,+21 phenotypically normal neonate with Down syndrome who developed TAM due to cryptic germline mosaicism. Quantification of the mosaic ratio was complicated
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Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-05-18 Yasuko Ogiwara,Atsushi Hattori,Kento Ikegawa,Yukihiro Hasegawa,Yoko Kuroki,Mami Miyado,Maki Fukami
We performed optical genome mapping (OGM), a newly developed cytogenetic technique, for a patient with a disorder of sex development (DSD) and a 46,XX,t(9;11)(p22;p13) karyotype. The results of OGM were validated using other methods. OGM detected a 9;11 reciprocal translocation and successfully mapped its breakpoints to small regions of 0.9-12.3 kb. OGM identified 46 additional small structural variants
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Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-05-18 Autumn Vara,Janice L Smith,S Shahrukh Hashmi,Victoria F Wagner,Kathryn Gunther,David F Rodriguez-Buritica
Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation and disease. Studies have described the accumulation of multiple CNVs as a disease-modifying mechanism. While it has been described how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved in dual CNV scenario has not been fully defined
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Radiation-induced gene expression changes used for biodosimetry and clinical outcome prediction: challenges and promises. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-05-12 Michael Abend,Patrick Ostheim,Matthias Port
As the war in Ukraine progresses, the radiological and nuclear threat has never been as real as now. The formation of life-threatening acute radiation syndrome (ARS), in particular after the deployment of a nuclear weapon or an attack on a nuclear power station, must be considered realistic. ARS is caused by massive cell death leading to functional organ deficits and, via systemic inflammatory responses
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International comparison exercise for biological dosimetry after exposures with neutrons performed at two irradiation facilities as part of the BALANCE project Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-04-18 David Endesfelder, Ulrike Kulka, Martin Bucher, Ulrich Giesen, Guy Garty, Christina Beinke, Matthias Port, Gaetan Gruel, Eric Gregoire, Georgia Terzoudi, Sotiria Triantopoulou, Elizabeth A. Ainsbury, Jayne Moquet, Mingzhu Sun, María Jesús Prieto, Mercedes Moreno Domene, Joan-Francesc Barquinero, Monica Pujol-Canadell, Anne Vral, Ans Baeyens, Andrzej Wojcik, Ursula Oestreicher
In the case of a radiological or nuclear event, biological dosimetry can be an important tool to support clinical decision-making. During a nuclear event, individuals might be exposed to a mixed field of neutrons and photons. The composition of the field and the neutron energy spectrum influence the degree of damage to the chromosomes. During the transatlantic BALANCE project, an exposure similar to
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Robertsonian fusion site in Rineloricaria pentamaculata (Siluriformes: Loricariidae): involvement of 5S rDNA and satellite sequences Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-04-13 Larissa Glugoski, Geize A. Deon, Viviane Nogaroto, Orlando Moreira-Filho , Marcelo Ricardo Vicari
Cytogenetic studies demonstrated that unstable chromosomal sites in armored catfishes (Loricariidae) triggered intensive karyotypic diversification, mainly derived from Robertsonian (Rb) rearrangements. In Loricariinae, the presence of ribosomal DNA (rDNA) clusters and their flanking repeated regions (such as microsatellites or partial transposable element sequences) were proposed to facilitate chromosomal
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Chromosomal evolution of Suboscines: Karyotype diversity and evolutionary trends in Ovenbirds (Passeriformes, Furnariidae) Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-30 Victoria Tura, Rafael Kretschmer, Francisco de Menezes Cavalcante Sassi, Renata Luiza Rosa de Moraes, Suziane Alves Barcellos, Vitor Oliveira de Rosso, Marcelo Santos de Souza, Marcelo de Bello Cioffi, Ricardo J. Gunski, Analía del Valle Garnero
Furnariidae (Ovenbirds) is one of the most diversified families in the Passeriformes order and Suboscines suborder. Despite their great diversity of species, cytogenetic research is still in its early stages, restricting our knowledge of their karyotype evolution. We combined traditional and molecular cytogenetic analyses in three representative species, Synallaxis frontalis, Syndactyla rufosuperciliata
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SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-16 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
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Effect of age and sex on gene expression-based radiation biodosimetry using mouse peripheral blood Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-16
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
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Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-10 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
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Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-09
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
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Shugoshin Regulates Cohesin, Kinetochore-Microtubule Attachments, and Chromosomal Instability Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-02 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
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A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-02
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
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Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-03-01 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
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Cytogenetic analysis of the fungus-farming ant Cyphomyrmex rimosus (Spinola, 1851) (Formicidae: Myrmicinae: Attini) highlights karyotypic variation Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-27
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
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Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: a Case Report Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-14 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
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Cytogenetic Abnormalities in Multiple Myeloma: Incidence, prognostic significance and geographic heterogeneity in Indian and western population. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-13 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
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Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-09 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
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Molecular and Chromosomal Evolution of DsTc1_5 and DsPogo_8 Elements (Tc1-Mariner) in Species of the Dichotomius Genus (Coleoptera: Scarabaeidae): Contributions to the Speciation Process Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-01
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
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Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-01 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
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Confirmation of Natural Hybridization between Kengyilia (StStYYPP) and Campeiostachys (StStYYHH) (Triticeae: Poaceae) Based on Morphological and Molecular Cytogenetic Analyses Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-02-01 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
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Fourth Report on Chicken Genes and Chromosomes 2022 Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-01-30 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
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Improved Basic Cytogenetics Challenges Holocentricity of Butterfly Chromosomes Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-01-23 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
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Transcriptional Analysis of Microsatellites in Velvetbean Caterpillar Anticarsia gemmatalis Hübner, 1818 Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-01-23 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
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Nucleotide Sequence and Chromosome mapping of 5S Ribosomal DNA from the Dojo Loach, Misgurnus anguillicaudatus Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-01-20
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
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Somatic variants and exon-level copy number changes in five hyperplastic-stage oral leukoplakias. Cytogenet. Genome Res. (IF 1.7) Pub Date : 2023-01-11 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)
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Molecular Cytogenetic Characterization of C-Band-Positive Heterochromatin of the Greater Long-Tailed Hamster (Tscherskia triton, Cricetinae) Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-19 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
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EPILEPTIC ENCEPHALOPATHY WITH VARIANTS IN THE PHACTR1 AND AFF2 GENES: A CASE REPORT Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-19 Marlen Lizeth Suarez-Mendez, Julian Ramire- Cheyne, Andres Arango-Aguirre, Christian Andres Rojas-Ceron, Diana López Alvarez, Harry Mauricio Pachajoa-Londoño
Developmental and epileptic encephalopathy 70 (DEE70) is an epileptic encephalopathy associated with multiple neurological abnormalities, global developmental delay, among other characteristics. It has recently been established that it is caused by a heterozygous variant of the PHACTR1 gene, with currently four cases reported in the literature. This article presents a case report of a patient with
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Intersexual Twins due to Tetragametic Chimerism Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-19 Rainer Wimmer, Uta Neumann, André Weber, Melanie Isau, Heike Renner-Luetzkendorf, Petra Zschieschang, Oliver Wachter, Kaimo Hirv, Markus Stumm
Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex are atypical. Here, we report on monochorionic diamniotic twins delivered by Caesarean section in the 36th week of pregnancy. Monochorionic twins are usually monozygous and thus should have the same sexual differentiation. In this case, one twin
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Identification of key genes from the visceral adipose tissues of overweight/obese adults with hypertension through transcriptome sequencing Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-15 Lanlan Liao, Lihui Zhang, Hongping Chen, Da Teng, Bowen Xu, Lei Gong, Lin Zhong, Chunxiao Wang, Haibin Dong, Wenjuan Jia, Jun Yang, Zhen Shi
Overweight and obese (OW/OB) adults are at increased risk of hypertension due to visceral adipose tissue (VAT) inflammation. In this study, we explored gene level differences in the VAT of hypertensive and normotensive OW/OB patients. VAT samples obtained from six OW/OB adults (three hypertensive, three normotensive) were subjected to transcriptome sequencing analysis. Gene set enrichment analysis
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Genotype-Phenotype Correlation of Distal 2q37 Deletions Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-14 Aiko Iwata-Otsubo, Kahlen R. Darr, Wilfredo Torres-Martinez, Jennelle C. Hodge
Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (#x3e;2–9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37
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B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21 Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-09 Vandana Baloda, Nidhi Aggarwal, Flavia G. Rosado, Sarah Mackey, James Felker, Svetlana A. Yatsenko
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood B-ALL, which is characterized by amplification of region 21q22.12 comprising the RUNX1 gene. Constitutional
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Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-08 Caroline Foucart, Gwenaël Le Guyader, Valérie Vequeau-Goua, Brigitte Gilbert-Dussardier, Matthieu Egloff
We report a patient presenting with neurodevelopmental disorder, cleft palate, micrognathia, relatively mild microcephaly (−2 SD), and ventricular septal defect for whom a 9p terminal deletion was identified by aCGH at birth. The analyses of the samples taken prenatally showed that this terminal deletion resulted from the recombination of a dicentric chromosome which was transmitted to the zygote.
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Ionizing Radiation-Induced DNA Damage Response in Primary Melanocytes and Keratinocytes of Human Skin Cytogenet. Genome Res. (IF 1.7) Pub Date : 2022-12-05 Jarah A. Meador, Rebecca J. Morris, Adayabalam S. Balajee
Currently, our knowledge of how different cell types in a tissue microenvironment respond to low and high linear energy transfer (LET) radiation is highly restricted. In this study, a comparative analysis was performed on γ-ray-induced DNA damage and repair in primary human melanocytes and keratinocytes isolated from 3 donors. Our study demonstrates a modest interindividual variability in both melanocytes