Article
Agriculture, Dairy & Animal Science
Marta Kuchta-Gladysz, Ewa Wojcik, Anna Grzesiakowska, Katarzyna Rymuza, Olga Szeleszczuk
Summary: The paper explores the karyotypes of blue and silver foxes, as well as their hybrids, focusing on A and B chromosome numbers and fragile site frequencies. Genome stability is influenced by Robertsonian translocations in blue foxes and B chromosomes in silver foxes. The study uses fragile sites assay as a biomarker to evaluate genome stability in foxes, with a lower frequency of instabilities observed in healthy individuals. The assay can assist in selecting individuals with stable genomes for breeding, particularly for the conservation of endangered species like the blue fox.
Review
Cell Biology
Devon M. Fitzgerald, Susan M. Rosenberg
Summary: The Escherichia coli SOS response to DNA damage, discovered by Evelyn Witkin and Miroslav Radman, is the prototypic DNA-damage stress response that upregulates proteins for protection and repair. Similar mechanisms are found across species and contribute to genome instability in human cancer and aging. Bacterial molecular genomic mechanisms can offer insights into universal biology, including in human disease.
Review
Obstetrics & Gynecology
Sine Berntsen, Hannele Laivuori, Nina la Cour Freiesleben, Anne Loft, Viveca Soderstrom-Anttila, Nan B. Oldereid, Liv Bente Romundstad, Asa Magnusson, Max Petzold, Christina Bergh, Anja Pinborg
Summary: This systematic review and meta-analysis aimed to evaluate the prevalence of chromosome abnormalities in ICSI pregnancies and children, comparing them to standard IVF and NC. While unadjusted data suggested a higher risk of abnormalities in ICSI offspring compared to standard IVF and NC, adjusted data did not show a significant difference in overall chromosome abnormalities. Further large-scale studies with systematic testing are needed to confirm these findings.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Biochemistry & Molecular Biology
Mohammed El Amine Bechar, Jean-Marie Guyader, Marwa El Bouz, Nathalie Douet-Guilbert, Ayman Al Falou, Marie-Berengere Troadec
Summary: The detection of structural chromosomal abnormalities (SCA) is crucial for the diagnosis, prognosis, and management of genetic diseases and cancers. We propose a highly performing and intelligent method using convolutional neural networks (CNN) with Siamese architecture to assist in the screening of SCA. Our experiments showed that the method achieved high performance in detecting deletions and inversions, even for difficult cases like inv(3).
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Environmental Sciences
Marilia Braga Costa, Izabelle Rocha Farias, Cristiane da Silva Monte, Luiz Ivando Pires Ferreira Filho, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Howard Lopes Ribeiro-Junior, Silvia Maria Meira Magalha, Ronald Feitosa Pinheiro
Summary: Exposure to pesticides in farmers may result in DNA damage in bone marrow stem cells, leading to chromosomal abnormalities. This genotoxic exposure negatively affects the expression profile of important DNA repair genes, favoring irreparable chromosomal lesions.
ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY
(2021)
Article
Genetics & Heredity
Ting Hu, Jiamin Wang, Qian Zhu, Zhu Zhang, Rui Hu, Like Xiao, Yunyuan Yang, Na Liao, Sha Liu, He Wang, Xiaoyu Niu, Shanling Liu
Summary: The study examines the clinical use of noninvasive prenatal testing (NIPT) as a prenatal screening tool for the detection of rare chromosomal abnormalities (RCAs). The results show that NIPT has low positive predictive values (PPVs) for common fetal aneuploidies, moderate PPVs for segmental imbalances, and incidental findings for regions of homozygosity/uniparental disomy (ROH/UPD).
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Fang Ji, Xinli Zhu, Hongwei Liao, Liujian Ouyang, Yingfei Huang, Madiha Zahra Syeda, Songmin Ying
Summary: This review provides an update on the research progress of common fragile sites (CFSs), including mapping and sequencing techniques, as well as hypotheses on the fragility origin of CFSs. By analyzing the locations, sequences, and replication/transcription of CFSs, this review presents the latest research status of CFSs and potentially offers a new framework for future CFS research.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Yuji Nakayama, Kaori Adachi, Nofirifumi Shioda, Shoya Maeta, Eiji Nanba, Hiroyuki Kugoh
Summary: This study introduced CGG repeats from different origins into mouse cells, mimicking FXS conditions in humans, providing an important resource for investigating the pathogenesis of FXS.
EXPERIMENTAL CELL RESEARCH
(2021)
Review
Oncology
Sebastian Omar Siri, Julieta Martino, Vanesa Gottifredi
Summary: Chromosome instability (CIN) involves increased numerical and structural changes in chromosomes, playing a pivotal role in tumor progression and potential therapeutic targeting. The review delves into the origins of structural CIN, cellular mechanisms, relationships between different CIN phenotypes, and the consequences of structural CIN in cells. The discussion also explores strategies to either prevent or amplify CIN for tumor treatment.
Article
Evolutionary Biology
Mari Yoshinaga, Yuji Inagaki
Summary: This study reexamined the ubiquity of SMC1-6 in phylogenetically diverse eukaryotes and found multiple secondary losses of SMC5 and SMC6 in eukaryotic evolution. It also revealed that the SMC proteins constituting cohesin and condensin were derived from closely related but distinct ancestral proteins. Based on these findings, the divergence of SMC 1-6 from the archaeal homologs was discussed.
GENOME BIOLOGY AND EVOLUTION
(2021)
Article
Agriculture, Multidisciplinary
Gleicy Kelly Oliveira, Nina Reis Soares, Zirlane Portugal Costa, Carmelice Boff Almeida, Raquel Moura Machado, Amanda Teixeira Mesquita, Monalisa Sampaio Carneiro, Eliana R. Forni-Martins, Mateus Mondin, Maria Lucia Carneiro Vieira
Summary: The modern cultivars of sugarcane are highly polyploid and accumulate aneuploidies due to domestication and genetic improvement. This study found abnormalities in the meiotic behavior of different sugarcane parentals and a commercial variety, providing important information for understanding sugarcane genetics and genomics.
ANNALS OF APPLIED BIOLOGY
(2023)
Article
Environmental Sciences
Qianfeng Liu, Dan Wang, Wen Li, Xiaoyu Li, Ze Yang, Ai Zhang, Jiayu He, Xu Chen, Ying Chang, Xi Chen, Nai-jun Tang
Summary: Prenatal exposure to heavy metals poses multiple hazards to fetal growth and development. This study found a positive association between metal mixtures and the risk of fetal chromosomal abnormalities, with antimony (Sb) being the primary contributing factor. Furthermore, Sb levels were associated with Klinefelter syndrome and Turner syndrome, providing a genetic perspective on the effects of heavy metals on sexual development in humans.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2023)
Article
Medicine, General & Internal
Huijing Zhang, Shuang Wang, Chunli Feng, Hongyan Zhao, Weiwei Zhang, Yu Sun, Huixia Yang
Summary: This retrospective study examined the pregnancy outcomes of fetuses with increased NT thickness (>=95th centile) at 11-14 weeks of gestation between January 2020 and November 2020. The results showed that increased NT was associated with a higher risk of chromosomal abnormalities and structural defects. Chromosomal abnormalities and structural defects were more likely to be detected when NT thickness was between the 95th centile and 2.5 mm.
FRONTIERS IN MEDICINE
(2023)
Article
Oncology
Hui Xiao, Siqi Wang, Yuejia Tang, Shanshan Li, Yufeng Jiang, Yi Yang, Yinwen Zhang, Yali Han, Xiaoyu Wu, Liang Zheng, Yanxin Li, Yijin Gao
Summary: The Shanghai Children's Medical Center conducted a study on T-acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) patients and found that those with TDT- had worse prognosis. Experimental evidence showed that TDT was involved in DNA damage repair, and the poor outcomes in TDT- T-ALL/LBL might be due to drug resistance induced by chromosomal abnormalities. The study emphasized that hematopoietic stem cell transplantation (HSCT) might be a better choice for these patients.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Brian E. Eckenroth, Joshua D. Bumgarner, Olivia Matsumoto-Elliott, Sheila S. David, Sylvie Doublie
Summary: Cellular DNA can be damaged from various sources and repaired using different systems depending on the context or cell cycle. DNA glycosylases are responsible for recognizing and removing oxidatively damaged bases. NEIL2 glycosylase, belonging to the Fpg/Nei family, can excise lesions in a wide range of DNA contexts, with a preference for oxidized cytosine products and abasic sites. The crystal structure of NEIL2 in complex with DNA duplex containing an abasic site analog has been determined.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Cell Biology
A. Mantzouratou, J. D. A. Delhanty
CYTOGENETIC AND GENOME RESEARCH
(2011)
Article
Cell Biology
Katie A. Finch, Gothami Fonseka, Dimitris Ioannou, Nicholas Hickson, Zoe Barclay, Katerina Chatzimeletiou, Anna Mantzouratou, Alan Handyside, Joy Delhanty, Darren K. Griffin
JOURNAL OF CELL SCIENCE
(2008)
Letter
Genetics & Heredity
L. Xanthopoulou, A. Mantzouratou, A. Mania, H. Ghevaria, C. Ghebo, P. Serhal, J. D. A. Delhanty
PRENATAL DIAGNOSIS
(2011)
Article
Obstetrics & Gynecology
L. Xanthopoulou, J. D. A. Delhanty, A. Mania, T. Mamas, P. Serhal, S. B. SenGupta, A. Mantzouratou
REPRODUCTIVE BIOMEDICINE ONLINE
(2011)
Article
Obstetrics & Gynecology
Anastasia Mania, Anna Mantzouratou, Joy D. A. Delhanty, Gianluca Baio, Paul Serhal, Sioban B. Sengupta
REPRODUCTIVE BIOMEDICINE ONLINE
(2014)
Article
Genetics & Heredity
Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal, J. D. A. Delhanty
MOLECULAR CYTOGENETICS
(2009)
Article
Genetics & Heredity
Leoni Xanthopoulou, Anna Mantzouratou, Anastasia Mania, Suzanne Cawood, Alpesh Doshi, Domenico M. Ranieri, Joy D. A. Delhanty
MOLECULAR CYTOGENETICS
(2010)
Editorial Material
Obstetrics & Gynecology
Elpida Fragouli, Anna Mantzouratou
FERTILITY AND STERILITY
(2021)
Article
Microbiology
Stephen Mark Edward Fordham, Anna Mantzouratou, Elizabeth Sheridan
Summary: Colistin is a last resort antibiotic for treating carbapenemase producing Klebsiella pneumoniae. The insertion of IS elements into the mgrB gene is a mechanism that causes colistin resistance. Plasmids carrying IS elements are common in K. pneumoniae, with ISKpn25 being mostly carried by IncFIB(pQil) plasmids, while ISKpn26 and ISKpn14 are often associated with IncFII(pHN7A8) plasmids. ISKpn25 is identified in 26 out of 34 countries that contain any of the IS elements, while ISKpn26, ISKpn14, and IS903B are most frequently found in China. Plasmids carrying ISKpn25, ISKpn14, and ISKpn26 have a higher count of carbapenemase genes compared to IS903B-carrying plasmids. IS903B-bearing plasmids have a higher count of environmental source isolations compared to ISKpn25, ISKpn14, and ISKpn26 bearing plasmids. The presence of carbapenemase in combination with IS elements could lead to an extensively drug-resistant profile in K. pneumoniae, limiting treatment options.
Review
Obstetrics & Gynecology
Jack Wieland, Sarah Buchan, Sioban Sen Gupta, Anna Mantzouratou
Summary: This article reviews the role of microsatellite instability in genomic instability syndromes and infertility, and reveals that it has been poorly researched.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2022)
Meeting Abstract
Obstetrics & Gynecology
A. Mantzouratou, L. Xanthopoulou, A. Mania, P. Serhal, J. Delhanty, S. SenGupta
HUMAN REPRODUCTION
(2020)
Meeting Abstract
Obstetrics & Gynecology
L. Xanthopoulou, A. Mantzouratou, A. Mania, H. Ghevaria, C. Ghebo, P. Serhal, J. D. A. Delhanty
HUMAN REPRODUCTION
(2011)
Meeting Abstract
Obstetrics & Gynecology
L. Xanthopoulou, A. Mantzouratou, A. Mania, J. Harper, J. D. A. Delhanty
HUMAN REPRODUCTION
(2007)
Meeting Abstract
Obstetrics & Gynecology
L. Xanthopoulou, H. Ghevaria, A. Mantzouratou, P. Serhal, A. Doshi, J. D. Delhanty
HUMAN REPRODUCTION
(2010)