Article
Genetics & Heredity
Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski, Jian Zeng, Yuanhao Yang, Dominique Cleary, Rachel Grove, Claire Hafekost, Alexis Harun, Helen Holdsworth, Rachel Jellett, Feroza Khan, Lauren Lawson, Jodie Leslie, Mira Levis Frenk, Anne Masi, Nisha E. Mathew, Melanie Muniandy, Michaela Nothard, Peter M. Visscher, Paul A. Dawson, Cheryl Dissanayake, Valsamma Eapen, Helen S. Heussler, Andrew J. O. Whitehouse, Naomi R. Wray, Jacob Gratten
Summary: This study based on the data from the Australian Autism Biobank found significant differences in genetic scores for ASD and IQ among different groups, with the IQ genetic score being able to predict the IQ of undiagnosed children and parents. Additionally, the genetic score related to chronotype was associated with sleep disturbances in the ASD group.
Review
Clinical Neurology
Clara A. Moreau, Armin Raznahan, Pierre Bellec, Mallar Chakravarty, Paul M. Thompson, Sebastien Jacquemont
Summary: Top-down studies have identified patterns of neuroimaging alterations with extreme polygenic architecture, indicating shared genomic variants and neuroimaging patterns across diagnostic categories. In contrast, bottom-up studies have shown equally large effect sizes of high-risk neuropsychiatric mutations for neuroimaging and behavioral traits, highlighting the surprising discordant effect sizes and the necessity to decompose the heterogeneity hindering case-control studies in idiopathic conditions.
Article
Biochemical Research Methods
Luca Denti, Parsoa Khorsand, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
Summary: Structural variants (SVs) contribute to sequence variability in genomes and are significant in human genomics and precision medicine. However, due to the complexities of the human genome, SV discovery in individuals has been challenging. The introduction of low-error long-read sequencing technologies, such as PacBio HiFi, may provide a solution to these challenges.
Article
Biochemical Research Methods
Junping Li, Lin Gao, Yusen Ye
Summary: The researchers developed a control-free method called HiSV for identifying large-scale structural variations from Hi-C samples. HiSV achieved superior accuracy and sensitivity through evaluations on simulated data sets and cancer cell lines, and effectively captured complex SVs. HiSV can also supplement the results of WGS methods.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Psychiatry
Camillo Thomas Gualtieri
Summary: The genetic origins of neuropsychiatric disorders such as autism and schizophrenia are complex and characterized by irregular behavior and variable expression. High-resolution genomewide analysis techniques have begun to illuminate the unpredictable behavior of the human genome, revealing a high degree of structural and behavioral variability that is especially relevant to brain development and function. Genomic variability is a key window into the origins of complex diseases, particularly neuropsychiatric disorders and neurodevelopmental disorders. Evolutionary genomic events are over-represented in patients with autism and schizophrenia, suggesting that the special qualities of the human genome that drove evolution might play a role in the development of these disorders.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Biology
Milovan Suvakov, Arijit Panda, Colin Diesh, Ian Holmes, Alexej Abyzov
Summary: CNVpytor is an extension of CNVnator that improves performance and functionality, allowing for filtering, annotation, and merging of CNV calls across multiple samples. Its modular architecture enables use in shared and cloud environments, and data can be exported to JBrowse for visualization and analysis.
Article
Behavioral Sciences
Jian Xu, John J. Marshall, Stephen Kraniotis, Toshihiro Nomura, Yongling Zhu, Anis Contractor
Summary: The study reveals that loss of mGluR5 has significant effects on social interaction and motor behavior, while not affecting self-grooming. Mice with mGluR5 ko show almost complete abolition of digging and marble burying behaviors, and impaired social interaction behavior.
BEHAVIOURAL BRAIN RESEARCH
(2021)
Article
Psychology, Clinical
Adam C. Cunningham, Jeremy Hall, Michael J. Owen, Marianne B. M. van den Bree
Summary: The study demonstrates that poor motor coordination is highly prevalent and closely linked to risk of mental health disorders and lower intellectual function in children with ND-CNVs. Coordination ability acts as a full mediator for anxiety symptoms and a partial mediator for ADHD, autism spectrum disorder traits, and IQ scores. Future research should investigate the possibility of early interventions ameliorating neurodevelopmental risks associated with poor coordination ability.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Immunology
Manuela Moraru, Adriana Perez-Portilla, Karima Al-Akioui Sanz, Alfonso Blazquez-Moreno, Antonio Arnaiz-Villena, Hugh T. Reyburn, Carlos Vilches
Summary: Fc gamma receptors (FcγR) are cell-surface glycoproteins that play a role in immune responses. The CNR5 deletion on the FCGR locus can lead to loss and recombination of FCGR genes, potentially affecting immune function. The distribution of FCGR polymorphism shows significant variation in the highlands of Ecuador, with CNR5 deletion being relatively common.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Clinical Neurology
Aurelien Perrin, Raul Juntas Morales, Francoise Chapon, Corinne Theze, Delphine Lacourt, Henri Pegeot, Emmanuelle Uro-Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valerie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Metay, Mireille Cossee
Summary: This study analyzed patients from two distinct families with a novel distal titinopathy phenotype associated with the same CNV in the TTN gene. The CNV reported in this study is the most proximal out-of-frame TTN variant and leads to aberrant splicing transcripts, resulting in frameshift and possibly dominant effects. This data represents a novel phenotype-genotype association and provides hypotheses for its dominant effects.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Joseph T. Glessner, Xiao Chang, Yichuan Liu, Jin Li, Munir Khan, Zhi Wei, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: The study developed a tool called Montage to enhance the accuracy of detecting mosaic copy number variants, identified numerous mosaic CNVs associated with phenotypes, and presented a novel algorithm for efficient detection of mosaic CNVs.
Article
Biochemistry & Molecular Biology
Agnieszka Piotrowska-Nowak, Krzysztof Safranow, Jakub G. Adamczyk, Ireneusz Soltyszewski, Pawel Cieszczyk, Katarzyna Tonska, Cezary Zekanowski, Beata Borzemska
Summary: Energy efficiency is crucial for athletic performance. This study investigated the relationship between mitochondrial DNA (mtDNA) variants and athletic performance among Polish male athletes. The analysis revealed no correlation between mtDNA variants and athletic performance, but showed a lower mtDNA copy number in both power and endurance athletes compared to controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Aditi Hazra, Andrea O'Hara, Kornelia Polyak, Faina Nakhlis, Beth T. Harrison, Antonio Giordano, Beth Overmoyer, Filipa Lynce
Summary: The goal of this study was to identify biomarkers associated with de novo inflammatory breast cancer (IBC). Through examination of breast biopsies, significant copy number variations (CNVs) on chromosome 7p11.2 and 21 were identified. These findings provide insights into the biology of IBC and may lead to the optimization of treatment strategies.
Article
Multidisciplinary Sciences
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen
Summary: This paper presents a method called "Chameleolyser" that accurately identifies variants in duplicated genomic regions. Application of this method to a large cohort of exome samples led to the identification of a significant number of rare variants, including those that resulted in direct molecular diagnoses for previously undiagnosed patients.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Heming Wu, Qingyan Huang, Xia Zhang, Zhikang Yu, Zhixiong Zhong
Summary: This study identified a high rate of chromosomal abnormalities in fetuses with miscarriage during early and middle pregnancy, with a significantly higher numerical chromosomal abnormality rate in pregnant women aged >=35 compared to <35. The early fetal chromosomal abnormality rate was higher than the middle fetal rate, and there were 168 genes enriched in the VOUS + pCNV regions, associated with 41 functions and 12 pathways.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Hisako Sugimoto, Takuro Horii, Jun-Na Hirota, Yoshitake Sano, Yo Shinoda, Ayumu Konno, Hirokazu Hirai, Yasuki Ishizaki, Hajime Hirase, Izuho Hatada, Teiichi Furuichi, Tetsushi Sadakata
Summary: The HapMap Project aims to discover relationships between human genetic variations and health, with the PHYHIPL gene found to impact cerebellum-related diseases. Further research is needed to understand the function of the PHYHIPL gene and its implications in human health.
Review
Chemistry, Medicinal
Yo Shinoda, Daitetsu Kato, Ryosuke Ando, Hikaru Endo, Tsutomu Takahashi, Yayoi Tsuneoka, Yasuyuki Fujiwara
Summary: The study reviewed and analyzed the effectiveness of 5-ALA PDT in vitro experiments for different cancer cell types, finding that the sensitivity to 5-ALA PDT varies across cancer classifications, with stomach cancer showing significantly higher sensitivity compared to other cancers. The analysis suggests the need for a standardized in vitro experimental protocol for 5-ALA PDT in future research.
Article
Neurosciences
Shuhei Fujima, Ryosuke Yamaga, Haruka Minami, Shota Mizuno, Yo Shinoda, Tetsushi Sadakata, Manabu Abe, Kenji Sakimura, Yoshitake Sano, Teiichi Furuichi
Summary: CAPS2 regulates the release of the social modulatory peptide oxytocin (OXT) through dense-core vesicle (DCV) exocytosis, impacting social behavior in mice. Deficiency in CAPS2 leads to reduced plasma OXT levels but increased levels in the hypothalamus and pituitary, indicating insufficient release. The impaired social interaction and recognition behavior in Caps2 KO mice can be ameliorated by intranasal administration of exogenous OXT.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Chiaki Ishii, Natsumi Shibano, Mio Yamazaki, Tomoki Arima, Yuna Kato, Yuki Ishii, Yo Shinoda, Yugo Fukazawa, Tetsushi Sadakata, Yoshitake Sano, Teiichi Furuichi
Summary: CAPS1 is a key molecule involved in vesicular exocytosis, but its role in synaptic plasticity and learning behavior remains unclear. Studies showed impaired synaptic plasticity and learning behavior in Caps1 cKO mice, with reduced docked vesicles in the hippocampal CA3 region and impaired long-term potentiation in CA1 and CA3 regions. These findings suggest that CAPS1 plays a crucial role in hippocampal synaptic release and plasticity, which is essential for hippocampus-associated learning.
SCIENTIFIC REPORTS
(2021)
Article
Behavioral Sciences
Makoto Wada, Kouji Takano, Masakazu Ide, Yoshitake Sano, Yo Shinoda, Teiichi Furuichi, Kenji Kansaku
Summary: This study aimed to elucidate the neural basis of the rubber tail illusion (RTI) response and its impairment in Caps2-KO mice by investigating c-Fos expression in both wild-type (WT) and Caps2-KO mice during the task. The results suggest that decreased c-Fos expression in the posterior parietal cortex may be related to impaired multisensory integrations in Caps2-KO mice, highlighting the importance of this brain region in body ownership illusions.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2021)
Article
Neurosciences
Teiichi Furuichi, Yuko Muto, Tetsushi Sadakata, Yumi Sato, Kanehiro Hayashi, Yoko Shiraishi-Yamaguchi, Yo Shinoda
Summary: This study elucidated the physiological roles of the Homer protein family in mouse cerebellar granule cells, revealing that the Homer2a N-terminal domain acts as a dominant negative protein to attenuate NMDAR-mediated excitotoxicity. Additionally, a novel short form N-terminal domain-containing Homer2, named Homer2e, was identified and found to be induced by apoptotic stimulation like ischemic brain injury. These findings suggest that long and short forms of Homer2 are involved in apoptosis of cerebellar granule cells.
Article
Biology
Yuki Sakamoto, Anna Ishimoto, Yuuki Sakai, Moeko Sato, Ryuichi Nishihama, Konami Abe, Yoshitake Sano, Teiichi Furuichi, Hiroyuki Tsuji, Takayuki Kohchi, Sachihiro Matsunaga
Summary: Researchers developed an improved tissue clearing method, iTOMEI, for fluorescence microscopy of both plant and animal tissues. This method efficiently removes chlorophyll and autofluorescence signals while preserving the desired fluorescence protein signals.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Yotaroh Sato, Miho Tsuyusaki, Hiromi Takahashi-Iwanaga, Rena Fujisawa, Atsushi Masamune, Shin Hamada, Ryotaro Matsumoto, Yu Tanaka, Yoichi Kakuta, Yumi Yamaguchi-Kabata, Tamio Furuse, Shigeharu Wakana, Takuya Shimura, Rika Kobayashi, Yo Shinoda, Ryo Goitsuka, So Maezawa, Tetsushi Sadakata, Yoshitake Sano, Teiichi Furuichi
Summary: CAPS2 plays a crucial role in the regulation of the pancreatic exocrine pathway and its deficiency is associated with the risk of pancreatic acinar cell pathology.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Pharmacology & Pharmacy
Takumi Katsuzawa, Kohei Kujirai, Shinji Kamisuki, Yo Shinoda
Summary: Malignant meningioma has a poor prognosis and lacks effective therapies. Avenaciolide, a water-insoluble organic compound derived from Aspergillus avenaceus, was found to exhibit effective anticancer activity in a human malignant meningioma cell line. This activity was mediated by the induction of reactive oxygen species-induced apoptosis, potentially due to mitochondrial dysfunction. These findings suggest that avenaciolide holds potential as a therapeutic drug for malignant meningioma.
BIOLOGICAL & PHARMACEUTICAL BULLETIN
(2022)
Article
Toxicology
Yo Shinoda, Yuta Yamada, Eiko Yoshida, Tsutomu Takahashi, Yayoi Tsuneoka, Komyo Eto, Toshiyuki Kaji, Yasuyuki Fujiwara
Summary: The study found that pain sensation is the sensory modality most susceptible to MeHg toxicity, while other sensory modalities are not affected by MeHg exposure. This sensitivity is reversible following discontinuation of exposure.
JOURNAL OF TOXICOLOGICAL SCIENCES
(2021)
