Article
Biochemistry & Molecular Biology
Keiji Ogura, Yoshiko Ayabe, Chihiro Harada, Ignacia Braga Tanaka, Satoshi Tanaka, Jun-ichiro Komura
Summary: This study reported the transgenerational effects of chronic low dose-rate irradiation in mice, revealing an increase in de novo copy number variations in the offspring of irradiated male mice. However, no significant difference was found in the size of the de novo deletions between the irradiated and non-irradiated groups. Further analysis suggested a potential association between de novo copy-number variations and shorter life spans.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Cecile Mejecase, Christopher M. Way, Nicholas Owen, Mariya Moosajee
Summary: DYRK1A is implicated in central nervous system development in a dose-sensitive manner. Mutations in DYRK1A can lead to neuropathological conditions like Down syndrome or DYRK1A-related intellectual disability, characterized by intellectual disability, autism spectrum disorder, microcephaly, and ocular abnormalities. Referral to ophthalmology is recommended for patients with DYRK1A variants to prevent amblyopia and reduce visual comorbidity.
Article
Immunology
Danielle Rodrigues Cortez, Fabio Mitsuo Lima, Joao Luis Reis-Cunha, Daniella Castanheira Bartholomeu, Rolando Andre Rios Villacis, Silvia Regina Rogatto, Andre Guilherme Costa-Martins, Fernanda Sycko Marchiano, Rafaela Andrade do Carmo, Jose Franco da Silveira, Marjorie Mendes Marini
Summary: In this study, the genetic differences between two lineages of Chagas disease-causing parasite T. cruzi were analyzed using intraspecific array-based comparative genomic hybridization (aCGH). The results showed that clone D11 had more chromosomal gains and losses compared to the parental G strain. These genomic changes suggest a dynamic genome in clone D11 that responds to environmental stress by altering gene copy numbers and generating segmental aneuploidy.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Education, Special
C. Palka Bayard de Volo, M. Alfonsi, E. Morizio, P. Guaciali-Franchi, A. Mohn, F. Chiarelli
Summary: The use of array-comparative genomic hybridization in analyzing a cohort of 343 Italian patients with ID, MCA, and ASD revealed a high detection rate of chromosomal abnormalities. The abnormalities were classified into three major groups based on their pathogenic significance, with a higher number of deletions in the pathogenic group. The study highlights the complexity of CNV classification and the importance of patient selection in interpreting molecular cytogenetic results.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)
Article
Multidisciplinary Sciences
Isabel Pijuan, Elisa Balducci, Cristina Soto-Sanchez, Eduardo Fernandez, Maria Jose Barallobre, Maria L. Arbones
Summary: Mutation in the DYRK1A gene can affect the development of glial cells and the morphological features of the brain's white matter tract, potentially leading to abnormal neuronal circuit development and impaired brain function.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Donatella Conconi, Serena Redaelli, Andrea Alberto Lissoni, Chiara Cilibrasi, Patrizia Perego, Eugenio Gautiero, Elena Sala, Mariachiara Paderno, Leda Dalpra, Fabio Landoni, Marialuisa Lavitrano, Gaia Roversi, Angela Bentivegna
Summary: The study analyzed the genomic and epigenomic profiles of uterine smooth muscle tumors, finding similarities between STUMPs and LMSs. Some genes with potential prognostic value, previously not associated with STUMP, were identified. Methylation data showed promise, especially in samples with divergent profiles, and Gene Ontology analysis highlighted cancer genes that may serve as prognostic markers in the future.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Angelo Cellamare, Nicoletta Coccaro, Maria Cristina Nuzzi, Paola Casieri, Marilina Tampoia, Flavia Angela Maria Maggiolini, Mattia Gentile, Romina Ficarella, Emanuela Ponzi, Maria Rosa Conserva, Laura Cardarelli, Annunziata Panarese, Francesca Antonacci, Antonia Gesario
Summary: This study reports a child with growth retardation identified through conventional cytogenetic analysis and array-CGH to have a balanced translocation and a 5q12 deletion. The findings suggest that cryptic deletions in chromosomes may lead to phenotypic abnormalities, emphasizing the importance of molecular investigation in cases of abnormal phenotype before assuming a simple cytogenetic rearrangement. Additionally, PDE4D and PIK3R1 genes are identified as potential candidates responsible for the clinical features in the patient.
Article
Biochemistry & Molecular Biology
Igor N. Lebedev, Tatyana Karamysheva, Eugeny A. Elisaphenko, Alexey Makunin, Daria Zhigalina, Maria E. Lopatkina, Gleb Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov
Summary: The case study presented a prenatal diagnosis of a foetus with mosaic sSMC(10) and identified a ring structure derived from chromosome 10 with specific regions involved. Despite the presence of a 9 Mb euchromatin region, the sSMC did not result in clinical manifestations and a healthy girl was born. The study suggests that the ring structure of sSMCs could influence their manifestations and should be considered in genetic counselling during prenatal diagnosis.
Article
Genetics & Heredity
Nicoletta Villa, Serena Redaelli, Stefania Farina, Donatella Conconi, Elena Maria Sala, Francesca Crosti, Silvana Mariani, Carla Maria Colombo, Leda Dalpra, Marialuisa Lavitrano, Angela Bentivegna, Gaia Roversi, Mario Ventura
Summary: Complex chromosomal rearrangements are rare events that can occur and be compatible with survival. They involve an imbalance and/or position effect of one or more genes, resulting in a variety of clinical presentations. Investigating and diagnosing these cases can be challenging. Understanding the pairing and segregation patterns of these chromosomes during meiosis is crucial for assessing the risk and type of imbalance in offspring.
Article
Medicine, General & Internal
Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Summary: This study aimed to determine the diagnostic yield of array-CGH in ASD patients from a Taiwanese cohort. The results showed a satisfactory diagnostic yield of array-CGH in Taiwanese ASD patients, supporting its clinical usefulness as a first-line testing method for ASD.
MEDICINA-LITHUANIA
(2022)
Article
Evolutionary Biology
Sungsik Kong, Laura S. Kubatko
Summary: Interspecific hybridization plays a vital role in evolutionary processes and contributes to genetic diversity and species diversity. Through comparative evaluation using simulated data, we found that HyDe and the D-statistic are powerful for detecting hybridization, while structure and ADMIXTURE sometimes fail to identify hybrids, particularly in scenarios with asymmetric parental contributions.
SYSTEMATIC BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Elisa Spataro, Adalgisa Cordisco, Carlo Luchi, Gilda Rosaria Filardi, Giulia Masini, Lucia Pasquini
Summary: The objective of this study was to determine the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. The results showed that the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm, and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan, the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Article
Medicine, General & Internal
Jessica Alejandra Zapata-Garcia, Alma Rocio Riveros-Magana, Pablo Cesar Ortiz-Lazareno, Georgina Hernandez-Flores, Luis Felipe Jave-Suarez, Adriana Aguilar-Lemarroy
Summary: This study identified genes present in chromosomal gain regions more frequently found in patients with acute lymphoblastic leukemia (ALL) using comparative genomic hybridization (CGH) and RNAseq. Several genes were found to be overexpressed in ALL cell lines and patients, including SALL2 in T-ALL and JUP in B-ALL, which correlated with worse patient prognosis.
Article
Biochemistry & Molecular Biology
Shristi Bhattarai, Bruna M. Sugita, Stefanne M. Bortoletto, Aline S. Fonseca, Luciane R. Cavalli, Ritu Aneja
Summary: TNBCs can be further classified into AR-positive and AR-negative subtypes, with AR-negative tumors showing higher levels of CNAs and a higher frequency of cases affected by CNAs. QNBCs and TNBCs exhibit similar CNAs in CIN25 and CA signatures, but QNBCs have higher expression levels of CIN25 and CA20 genes. miRNA profiling identified differentially expressed miRNAs associated with genomic instability, with eight miRNAs showing concordance of expression and copy number levels.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Elisabet Lloveras, Anna Canellas, Alberto Plaja, Laura Barranco, Daniel Fernandez, Begona Mendez, Meritxell Pique, Cristina de la Iglesia, Nuria Palau, Marta Costa, Marta Herrero, Diana Yeste, Marc Auge, Laia Puig, Cristina Perez
Summary: The use of new technologies has revealed new mechanisms for structural variation in the human genome, such as the phenomenon of chromothripsis, posing challenges for genetic counseling.
CYTOGENETIC AND GENOME RESEARCH
(2021)