Article
Genetics & Heredity
Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel
Summary: The most common microdeletion in humans occurs at the 22q11.2 region, which is rich in low copy repeats (LCR22s). The complex structure of this region has been difficult to characterize. Optical mapping has been used to study the structure and variations of LCR22s. This study identified all structures involving a rearranged chromosome 22 that contribute to the 22q11.2 deletion.
Article
Veterinary Sciences
Chun-Yu Liu, Ming Jin, Hao Guo, Hong-Zhe Zhao, Li-Na Hou, Yang Yang, Yong-Jun Wen, Feng-Xue Wang
Summary: Bovine herpesvirus type I (BoHV-1) is a highly pathogenic virus that causes respiratory diseases in cattle, resulting in significant economic losses to the cattle industry worldwide. Researchers successfully knocked out the gE gene of BoHV-1 using the CRISPR/Cas9 system and observed interesting phenomena. This study provides a foundation for future research on BoHV-1 and vaccine development.
VETERINARY SCIENCES
(2022)
Article
Fisheries
Wenji Wang, Suying Hou, Jianlin Chen, Liqun Xia, Yishan Lu
Summary: The study demonstrated that the glutamyl endopeptidase homolog of Nocardia seriolae (GluNS) is a potential virulence factor. An attenuated N. seriolae strain, NS-AGluNS, was successfully constructed by deleting the GluNS gene, which can induce immune responses and provide protection to hybrid snakehead.
FISH & SHELLFISH IMMUNOLOGY
(2022)
Article
Biology
Haining Zhong, Cesar C. Ceballos, Crystian Massengill, Michael A. Muniak, Lei Ma, Maozhen Qin, Stefanie Kaech Petrie, Tianyi Mao
Summary: CRISPIE is a method that enables precise and reversible labeling of endogenous proteins using CRISPR/Cas9 technology, by inserting a specific designed donor module. This method allows efficient insertion and removal of protein sequences, resulting in nearly error-free insertion junctions.
Article
Biotechnology & Applied Microbiology
Fang Xue, Xufan Ma, Cheng Luo, Dongliang Li, Guiyang Shi, Youran Li
Summary: In this study, a recombinase called RecT was identified from a Bacillus phage, which significantly enhanced the recombination efficiency of Bacillus licheniformis. A system based on the conditional expression of RecT using a rhamnose-inducible promoter was developed for genome editing. The findings of this study provide a highly effective genome editing tool for genetic engineering applications in Bacillus licheniformis.
Review
Plant Sciences
Jason Sims, Fernando A. Rabanal, Christiane Elgert, Arndt Von Haeseler, Peter Schloegelhofer
Summary: Ribosomal RNA genes are organized in large domains of hundreds of rDNA units, with stable inheritance crucial for survival. During meiosis, rDNA loci are embedded within the nucleolus favoring non-homologous end joining as a repair mechanism, while rare homologous recombination events dynamically change rDNA unit numbers. The sequence heterogeneity and size stability of rDNA clusters in Arabidopsis thaliana show potential functional implications and drive further research into the mechanisms maintaining their metastable state.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Plant Sciences
Shuying Yang, Chao Zhang, Yiwei Cao, Guijie Du, Ding Tang, Yafei Li, Yi Shen, Hengxiu Yu, Zhukuan Cheng
Summary: FIGNL1 functions as an inhibitor for non-homologous chromosome interaction and crossover formation during rice meiosis.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Phyo Han Thwin, Mai Funabiki, Yuki Tomita, Takehiko Yamazaki, Ayumi Abe, Teruo Sone
Summary: In phytopathogenic fungi, a mutation in the avirulence gene can lead to host plant resistance breakdown. The nucleotide sequences of the AVR-Pik locus were determined in the strain Ina168 and its spontaneous mutant Ina168m95-5 of Pyricularia oryzae, proposing an AVR-Pik spontaneous deletion mechanism involving multiple homologous recombination events with repetitive transposable elements.
BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY
(2021)
Article
Biochemical Research Methods
Konstantinn Bonnet, Tobias Marschall, Daniel Doerr
Summary: Homologous recombination plays a crucial role in human inheritance and population genetic properties. However, non-allelic homologous recombination (NAHR) between different copies of the same sequence can also lead to genomic rearrangements and contribute to genomic disorders. The lack of computational models to study genomic loci prone to NAHR is a gap that needs to be addressed.
ALGORITHMS FOR MOLECULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
John J. Skoko, Juxiang Cao, David Gaboriau, Myriam Attar, Alparslan Asan, Lisa Hong, Candice E. Paulsen, Hongqiang Ma, Yang Liu, Hanzhi Wu, Trey Harkness, Cristina M. Furdui, Yefim Manevich, Ciaran G. Morrison, Erika T. Brown, Daniel Normolle, Maria Spies, Michael Ashley Spies, Kate Carroll, Carola A. Neumann
Summary: This study identifies RAD51 Cys319 as a functionally significant site for the redox regulation of homologous recombination (HR) and cellular responses to ionizing radiation (IR). The loss of peroxiredoxin 1 (PRDX1) inhibits RAD51 focus formation and HR DNA repair, leading to increased DNA damage and sensitization of cells to irradiation.
Article
Oncology
Elizabeth M. Swisher, Carol Aghajanian, David M. O'Malley, Gini F. Fleming, Scott H. Kaufmann, Douglas A. Levine, Michael J. Birrer, Kathleen N. Moore, Nick M. Spirtos, Mark S. Shahin, Thomas J. Reid, Michael Friedlander, Karina Dahl Steffensen, Aikou Okamoto, Vasudha Sehgal, Peter J. Ansell, Minh H. Dinh, Michael A. Bookman, Robert L. Coleman
Summary: This study examines the efficacy of the PARP inhibitor veliparib in ovarian cancer patients. The results show that veliparib, when combined with chemotherapy and used as maintenance therapy, can extend progression-free survival and demonstrate higher objective response rates in certain subgroups. These findings provide new opportunities for patients who do not meet the criteria for frontline PARP inhibitor maintenance therapy.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Ping Zhang, Ziyan Lv, Zhaoxin Lu, Wenjie Ma, Xiaomei Bie
Summary: The importance of thioesterase domains in bacillomycin D synthesis and their ability to selectively recognize and catalyze peptide chain hydrolysis and cyclization were studied. Results showed that the TE domain was essential for bacillomycin D synthesis, as no bacillomycin D analogs were found in the strain with the thioesterase domain deleted. By substituting different thioesterase domains, analogs of bacillomycin D were successfully synthesized, with significantly increased yield in certain substitutions.
BIOTECHNOLOGY LETTERS
(2023)
Review
Oncology
Lorena Incorvaia, Alessandro Perez, Claudia Marchetti, Chiara Brando, Valerio Gristina, Daniela Cancelliere, Alessia Pivetti, Silvia Contino, Emilia Di Giovanni, Nadia Barraco, Marco Bono, Ambra Giurintano, Tancredi Didier Bazan Russo, Andrea Gottardo, Sofia Cutaia, Erika Pedone, Marta Peri, Lidia Rita Corsini, Daniele Fanale, Antonio Galvano, Giovanni Scambia, Giuseppe Badalamenti, Antonio Russo, Viviana Bazan
Summary: BRCA1 and BRCA2 deleterious variants have been the main biomarkers for the efficacy of PARP inhibitors in breast cancer. However, with the increasing number of individuals seeking counseling and multigene panel testing, as well as the expanding approval of PARP inhibitors beyond BRCA1/BRCA2 variants, there is a strong need for non-BRCA biomarkers. Current testing and assays have limitations, and different approaches to identify the causes of HRD are not interchangeable. The deeper understanding of proteins involved in HRR, beyond BRCA, brings possibilities for successful non-BRCA, HRD-PARPi synthetic lethality, but also highlights the need for better definition of HRD biomarkers for predicting the magnitude of PARP inhibitor benefit.
CANCER TREATMENT REVIEWS
(2023)
Article
Biochemical Research Methods
Yaru Chen, Meijie Cheng, Xueru Feng, Xiaolong Niu, Hao Song, Yingxiu Cao
Summary: This study developed CRISPR-Cas systems suitable for AT-rich sequences and demonstrated their potential for genome editing in S. oneidensis, including gene deletion, gene replacement, and gene insertion.
ACS SYNTHETIC BIOLOGY
(2022)
Article
Genetics & Heredity
Arman A. Bashirova, Wojciech Kasprzak, Colm O'hUigin, Mary Carrington
Summary: The genes LILRB3 and LILRA6 encode homologous receptors with inhibitory and activating functions, respectively. These genes exhibit high levels of polymorphism at the amino acid level, and LILRA6 shows variation in copy number. By analyzing the genetic variation in 91 individuals, it was found that common alleles of LILRB3 and LILRA6 encode different amino acid sequences in homologous regions, potentially affecting their functions differently. Furthermore, the comparison of sequences in individuals with different copy numbers of LILRA6 suggests a mechanism of non-allelic homologous recombination between LILRB3 and LILRA6. These findings provide a detailed characterization of LILRB3/LILRA6 genetic variation and highlight the need for determining their ligands.
Article
Genetics & Heredity
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh
JOURNAL OF MEDICAL GENETICS
(2017)
Article
Endocrinology & Metabolism
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Chunhua Zhang, Xu Wang, Yoriko Watanabe, Kyoko Tashiro, Rutger Meinsma, Jeroen Roelofsen, Lida Zoetekouw, Andre B. P. van Kuilenburg
MOLECULAR GENETICS AND METABOLISM
(2017)
Article
Pediatrics
Yukako Kawasaki, Masami Makimoto, Azusa Samejima, Noriko Yoneda, Ken Higashimoto, Hidenobu Soejima, Taketoshi Yoshida
PEDIATRICS AND NEONATOLOGY
(2018)
Article
Pediatrics
Ken-ichiro Konishi, Tatsuki Mizuochi, Tadahiro Yanagi, Yoriko Watanabe, Kazuhiro Ohkubo, Shouichi Ohga, Hidehiko Maruyama, Ichiro Takeuchi, Yuji Sekine, Kei Masuda, Nobuyuki Kikuchi, Yuka Yotsumoto, Yasufumi Ohtsuka, Hidenori Tanaka, Takahiro Kudo, Atsuko Noguchi, Kazumasa Fuwa, Sotaro Mushiake, Shinobu Ida, Jun Fujishiro, Yushiro Yamashita, Tomoaki Taguchi, Ken Yamamoto
JOURNAL OF PEDIATRICS
(2019)
Article
Clinical Neurology
Mayumi Matsufuji, Eiko Takeshita, Masayuki Nakashima, Yoriko Watanabe, Kaori Fukui, Toshio Hanai, Hiromi Ishibashi, Sachio Takashima
BRAIN & DEVELOPMENT
(2020)
Article
Pediatrics
Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira
FRONTIERS IN PEDIATRICS
(2019)
Article
Genetics & Heredity
Ken Higashimoto, Hijiri Watanabe, Yuka Tanoue, Hidefumi Tonoki, Tomoharu Tokutomi, Satoshi Hara, Hitomi Yatsuki, Hidenobu Soejima
Summary: Silver-Russell syndrome (SRS) is a representative imprinting disorder characterized by ICR1-LOM, with analysis showing variations in methylation patterns among different patients, emphasizing the importance of simultaneous analysis of multiple methylation sites for accurate molecular diagnosis.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Endocrinology & Metabolism
Yoriko Watanabe, Chikahiko Numakura, Toshiyuki Tahara, Kaori Fukui, Takuji Torimura, Yuji Hiromatsu, Ken Tomotsune, Mitsunori Yamakawa, Kiyoshi Hayasaka
DIABETES RESEARCH AND CLINICAL PRACTICE
(2020)
Article
Multidisciplinary Sciences
Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano, Toshiro Kawakita, Hirotoshi Sakaguchi, Takuya Ichimura, Shuichi Ozono, Kotaro Yuge, Yoriko Watanabe, Yuko Kotani, Mutsumi Yamane, Yumiko Kasugai, Miyako Tanaka, Takayoshi Suganami, Shinichiro Nakada, Norisato Mitsutake, Yuichiro Hara, Kohji Kato, Seiji Mizuno, Noriko Miyake, Yosuke Kawai, Katsushi Tokunaga, Masao Nagasaki, Seiji Kito, Keiichi Isoyama, Masafumi Onodera, Hideo Kaneko, Naomichi Matsumoto, Fumihiko Matsuda, Keitaro Matsuo, Yoshiyuki Takahashi, Tomoji Mashimo, Seiji Kojima, Tomoo Ogi
Article
Endocrinology & Metabolism
Yoshiyuki Okano, Miki Okamoto, Masahide Yazaki, Ayano Inui, Toshihiro Ohura, Kei Murayama, Yoriko Watanabe, Daisuke Tokuhara, Yasuhiro Takeshima
Summary: Patients with citrin deficiency show diverse clinical features during the adaptation/compensation period and have a characteristic high protein, high fat, low carbohydrate diet. Recent studies suggest that a diet intervention may help prevent the onset of type II citrullinemia in these patients. Analysis shows that patients have higher energy intake compared to the standard, with a PFC ratio indicating higher protein and fat intake but lower carbohydrate consumption. Differences in PFC ratio between male and female patients may contribute to the lower frequency of CTLN2 in females. Despite higher energy intake, particularly from a low carbohydrate diet, patients were generally not overweight and may benefit from dietary intervention to achieve normal growth and prevent CTLN2 onset.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Endocrinology & Metabolism
Jun Kido, Shirou Matsumoto, Johannes Haberle, Yoko Nakajima, Yoichi Wada, Narutaka Mochizuki, Kei Murayama, Tomoko Lee, Hiroshi Mochizuki, Yoriko Watanabe, Reiko Horikawa, Mureo Kasahara, Kimitoshi Nakamura
Summary: This study investigated urea cycle disorders in Japan and found that blood ammonia levels and time of onset significantly impact neurodevelopmental outcomes, with blood ammonia levels >= 360 mu mol/L being a significant indicator for poor neurodevelopmental outcomes.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Genetics & Heredity
Feifei Sun, Satoshi Hara, Chiyoko Tomita, Yuka Tanoue, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima
Summary: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi)genetic alterations, with a higher incidence in monozygotic twins. Most affected female twins show phenotypical discordance, with one diagnosed while the other appears clinically normal. The most common alteration in twins is loss of methylation of imprinting control region 2 (ICR2-LOM) at 11p15.5, occurring early after fertilization.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Biochemistry & Molecular Biology
Yuki Tomiga, Kazuya Sakai, Song-Gyu Ra, Masaki Kusano, Ai Ito, Yoshinari Uehara, Hirokazu Takahashi, Kentaro Kawanaka, Hidenobu Soejima, Yasuki Higaki
Summary: This study found that relatively short-term running exercise can reduce anxiety-like behaviors, increase brain-derived neurotrophic factor (BDNF), and decrease neuronal nitric oxide synthase (nNOS) levels through epigenetic modifications in the brain. These effects mainly occur in the ventral hippocampal region, suggesting a potential mechanism for mood regulation via alterations in epigenetic mechanisms after a brief period of exercise.
Article
Nutrition & Dietetics
Miki Okamoto, Yoshiyuki Okano, Mai Okano, Masahide Yazaki, Ayano Inui, Toshihiro Ohura, Kei Murayama, Yoriko Watanabe, Daisuke Tokuhara, Yasuhiro Takeshima
Summary: Patients with citrin deficiency have a preference for high protein, high fat, and low carbohydrate diet, and tend to dislike foods with low protein, low fat, and high carbohydrate content. Carbohydrates have the strongest influence on patients' food preference, and female patients show a stronger aversion to high carbohydrate foods than males. The preferred protein, fat, and carbohydrate energy ratio of patients' favorite foods aligns closely with their daily diet, suggesting a strive for nutritional balance from early infancy to compensate for the metabolic dissonance caused by citrin deficiency.
Article
Clinical Neurology
Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi
Summary: This case report presents a 3-month-old infant with autoimmune encephalitis as the initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, who later developed infantile spasms/West syndrome. Treatment with rituximab resulted in complete cessation of spasms, suggesting a crucial role of B cells in the mechanisms of infantile spasms/West syndrome. Further investigation is needed to explore the effectiveness of rituximab for infantile spasms/West syndrome patients with autoimmune encephalitis or other underlying mechanisms.
FRONTIERS IN NEUROLOGY
(2021)