Article
Multidisciplinary Sciences
Qichao Lian, Victor Solier, Birgit Walkemeier, Stephanie Durand, Bruno Huettel, Korbinian Schneeberger, Raphael Mercier
Summary: This study reveals the recombination landscape in the genome of Arabidopsis and its relationship with polymorphisms. The results show that the recombination frequency varies along different chromosomal regions and is highly correlated with sequence divergence. However, polymorphisms are not the main determinant of the shape of the recombination landscape. Instead, it is predominantly influenced by chromatin accessibility and DNA methylation. In inbred lines with minimal polymorphisms, the megabase-scale recombination landscape is similar to that in hybrids, except for cases where heterozygous large rearrangements prevent recombination locally. These findings provide new insights into the relationship between recombination landscape and polymorphisms.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
J. Boutin, J. Rosier, D. Cappellen, F. Prat, J. Toutain, P. Pennamen, J. Bouron, C. Rooryck, J. P. Merlio, I. Lamrissi-Garcia, G. Cullot, S. Amintas, V. Guyonnet-Duperat, C. Ged, J. M. Blouin, E. Richard, S. Dabernat, F. Moreau-Gaudry, A. Bedel
Summary: The study reveals the genotoxicity caused by CRISPR-Cas9 leading to loss of heterozygosity changes, while also highlighting the potential safety concerns of this technology for gene therapy.
NATURE COMMUNICATIONS
(2021)
Article
Plant Sciences
Seunghyun Ban, Islam El-Sharkawy, Jiantao Zhao, Zhangjun Fei, Kenong Xu
Summary: Somatic mutations can alter important traits in tree fruits. This study reveals that a hemizygous deletion of a 2.8 Mb genomic region on chromosome 6, which results in the complete loss of the MdACT7 gene, is largely responsible for the delayed fruit maturation in AGala.
Editorial Material
Cardiac & Cardiovascular Systems
Mehmet Rasih Sonsoz, Ezgi Gokpinar Ili, Alper Gezdirici, Cagdas Topel, Gokhan Kahveci, Helen Bornaun
Summary: Supplementary digital content is available in the text.
CIRCULATION-CARDIOVASCULAR IMAGING
(2021)
Article
Pediatrics
E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein, F. Foulquier
Summary: CDG is a group of metabolic genetic disorders, with PMM2-CDG being one of the most common types. This case report describes a French child with PMM2-CDG, presenting with congenital ataxia. A novel heterozygous deletion of the PMM2 gene was identified using WGS technology in this patient.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Review
Neurosciences
Yu Tian, Jiaming Wang, Lei Jiang, Zhaohai Feng, Xin Shi, Yujun Hao
Summary: The article evaluates the incidence and symptoms of postoperative peri-lead edema (PLE) after deep brain stimulation (DBS) implantation, as well as the causes, duration, treatment methods, and prognostic outcomes. The incidence of PLE was found to be 35.8%, while the incidence of symptomatic PLE was 3.1%, accounting for 8.7% of PLE.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Pharmacology & Pharmacy
Lin Wei, Xiao Han, Xue Li, Bingjuan Han, Wenying Nie
Summary: Mowat-Wilson syndrome is a rare disorder caused by mutations in the ZEB2 gene, characterized by specific clinical features.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Traicie Dervin, Noemie Ranisavjevic, Lucie Laot, Anne Mayeur, Constance Duperier, Julie Steffann, Roxana Borghese, Dominique Stoppa-Lyonnet, Nelly Frydman, Alexandra Benachi, Charlotte Sonigo, Michael Grynberg
Summary: This study evaluated the acceptability and personal attitude of women carrying a BRCA mutation toward preimplantation genetic testing (PGT-M) and prenatal diagnosis (PND). The majority of women supported the use of PGT-M, but the acceptance rate for PND was lower. Females with a personal history of breast cancer or fertility preservation were more willing to undergo PND. Women carrying BRCA pathogenic variants need information about reproductive issues, regardless of their willingness to undergo PGT-M or PND.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Clinical Neurology
Lydia Sagath, Vilma-Lotta Lehtokari, Salla Valipakka, Anna Vihola, Maria Gardberg, Peter Hackman, Katarina Pelin, Manu Jokela, Kirsi Kiiski, Bjarne Udd, Carina Wallgren-Pettersson
Summary: This study reports the first mosaic mutation in the nebulin gene identified in a Finnish patient, causing a predominantly distal congenital myopathy and asymmetric muscle weakness. The mutation was detected through copy number variation analysis and confirmed with a targeted comparative genomic hybridisation array. The truncated allele was found to be less than half the size of the full-length nebulin.
NEUROMUSCULAR DISORDERS
(2021)
Article
Infectious Diseases
Shiori Hoshi, Takahiko Niwa, Eiji Ariyoshi, Takehisa Matsumoto
Summary: This article reports a small-colony variant (SCV) of carbon dioxide-dependent Escherichia coli isolated from a patient with acute bacterial cystitis. The SCV isolate did not grow in the MicroScan WalkAway-40 System and needed 5% CO2-enhanced ambient air for colony formation. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and 16S rRNA sequencing were used for identification, and genome sequencing analysis revealed a deletion mutation in the carbonic anhydrase gene, can, and the presence of antimicrobial resistance genes. The study highlights the importance of Can in E. coli growth in ambient air and the need for antimicrobial susceptibility testing under CO2-enhanced ambient air for carbon dioxide-dependent SCVs.
JOURNAL OF INFECTION AND CHEMOTHERAPY
(2023)
Article
Obstetrics & Gynecology
Zhi-Yang Guan, Ze-Yan Zhong, Hai-Lin He, Dan Chen, Guo-Xing Zhong, Kun-Xiang Yang, Jian-Hong Chen
Summary: This study reported a rare mutation on the a2-globin gene and its potential functions, focusing on four patients with Hb H disease who showed diversity in clinical presentation. The findings are significant for providing genetic counseling to couples at risk of having offspring with Hb H disease and reducing the occurrence of severe cases.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2021)
Article
Cell Biology
Toshihiko Fukuzawa
Summary: The periodic albino mutant of Xenopus laevis is a recessive mutant that affects melanophores and retinal pigment epithelium, with the causative gene being the HPS type 4 (hps4) gene. Injection of wild-type hps4.L mRNA can rescue the albino phenotype. The phenotype of this mutant should be reassessed from the perspective of lysosome-related organelles (LRO) biogenesis.
Article
Clinical Neurology
M. Masingue, B. Rucheton, C. Bris, N. B. Romero, V. Procaccio, B. Eymard
Summary: This article reports a case of a patient in whom extensive muscle pathology, biochemical and genetic mtDNA analyses were crucial in understanding a unique asymmetrical myopathic presentation. The findings suggest that heteroplasmy levels and mitochondrial defects can vary significantly for the same type of muscle in mitochondrial myopathies, raising the possibility of a new pathophysiological mechanism explaining asymmetry in hereditary myopathies.
NEUROMUSCULAR DISORDERS
(2022)
Article
Endocrinology & Metabolism
Kanako Tachikawa, Miwa Yamazaki, Toshimi Michigami
Summary: In this study, a 7-year-old boy with childhood hypophosphatasia (HPP) was reported. The disease was caused by a mutation in the ALPL gene and demonstrated autosomal dominant inheritance. The patient exhibited short stature, impaired ossification of the carpal bones, and low bone mineral density. Molecular biology experiments confirmed the loss of enzyme activity and the dominant-negative effect of the mutation, leading to the diagnosis of autosomal dominant HPP.
CLINICAL PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Medicine, Research & Experimental
Seiya Mizuno, Dinh T. H. Tra, Atsushi Mizobuchi, Hiroyoshi Iseki, Saori Mizuno-Iijima, Jun-Dal Kim, Junji Ishida, Yoichi Matsuda, Satoshi Kunita, Akiyoshi Fukamizu, Fumihiro Sugiyama, Ken-ichi Yagami
LABORATORY INVESTIGATION
(2014)
Article
Biochemistry & Molecular Biology
Seiya Mizuno, Tra Thi Huong Dinh, Kanako Kato, Saori Mizuno-Iijima, Yoko Tanimoto, Yoko Daitoku, Yoshikazu Hoshino, Masahito Ikawa, Satoru Takahashi, Fumihiro Sugiyama, Ken-ichi Yagami
Article
Multidisciplinary Sciences
Michito Hamada, Megumi Nakamura, Mai Thi Nhu Tran, Takashi Moriguchi, Cynthia Hong, Takayuki Ohsumi, Tra Thi Huong Dinh, Manabu Kusakabe, Motochika Hattori, Tokio Katsumata, Satoko Arai, Katsuhiko Nakashima, Takashi Kudo, Etsushi Kuroda, Chien-Hui Wu, Pei-Han Kao, Masaharu Sakai, Hitoshi Shimano, Toru Miyazaki, Peter Tontonoz, Satoru Takahashi
NATURE COMMUNICATIONS
(2014)
Article
Developmental Biology
Hoai Thu Le, Yoshikazu Hasegawa, Yoko Daitoku, Kanako Kato, Saori Miznuo-Iijima, Tra Thi Huong Dinh, Yumeno Kuba, Yuki Osawa, Natsuki Mikami, Kento Morimoto, Shinya Ayabe, Yoko Tanimoto, Kazuya Murata, Ken-ichi Yagami, Satoru Takahashi, Seiya Mizuno, Fumihiro Sugiyama
Article
Biochemical Research Methods
Saori Mizuno-Iijima, Shinya Ayabe, Kanako Kato, Shogo Matoba, Yoshihisa Ikeda, Tra Thi Huong Dinh, Hoai Thu Le, Hayate Suzuki, Kenichi Nakashima, Yoshikazu Hasegawa, Yuko Hamada, Yoko Tanimoto, Yoko Daitoku, Natsumi Iki, Miyuki Ishida, Elzeftawy Abdelaziz Elsayed Ibrahim, Toshiaki Nakashiba, Michito Hamada, Kazuya Murata, Yoshihiro Miwa, Miki Okada-Iwabu, Masato Iwabu, Ken-ichi Yagami, Atsuo Ogura, Yuichi Obata, Satoru Takahashi, Seiya Mizuno, Atsushi Yoshiki, Fumihiro Sugiyama
Summary: Genetically modified mouse models are crucial for studying gene function and human diseases. By incorporating the nuclear localization property of Cdt1 protein into the CRISPR-Cas system, Cas9-mC was able to efficiently produce mice carrying targeted mutations, including bi-allelic full deletions and fragment knock-ins.
Article
Biology
Tra Thi Huong Dinh, Hiroyoshi Iseki, Seiya Mizuno, Saori Iijima-Mizuno, Yoko Tanimoto, Yoko Daitoku, Kanako Kato, Yuko Hamada, Ammar Shaker Hamed Hasan, Hayate Suzuki, Kazuya Murata, Masafumi Muratani, Masatsugu Ema, Jun-Dal Kim, Junji Ishida, Akiyoshi Fukamizu, Mitsuyasu Kato, Satoru Takahashi, Ken-ichi Yagami, Valerie Wilson, Ruth M. Arkell, Fumihiro Sugiyama
Summary: This study found that disruption of Cables2 led to growth retardation and enhanced apoptosis in mice embryos, ultimately resulting in embryonic lethality. Comparative transcriptome analysis revealed down-regulation of Rps21 and up-regulation of p53-target genes, suggesting their involvement in the embryonic lethality.
Article
Biology
Yuki Osawa, Kazuya Murata, Miho Usui, Yumeno Kuba, Hoai Thu Le, Natsuki Mikami, Toshinori Nakagawa, Yoko Daitoku, Kanako Kato, Hossam Hassan Shawki, Yoshihisa Ikeda, Akihiro Kuno, Kento Morimoto, Yoko Tanimoto, Tra Thi Huong Dinh, Ken-ichi Yagami, Masatsugu Ema, Shosei Yoshida, Satoru Takahashi, Seiya Mizuno, Fumihiro Sugiyama
Summary: EXOC1, a member of the Exocyst complex, plays a crucial role in the pseudopod formation of spermatogonia and spermatocyte syncytia in mice. This finding may serve as a starting point for uncovering many other morphological regulators of male germ cells.
Article
Veterinary Sciences
Ammar Shaker Hamed Hasan, Tra Thi Huong Dinh, Hoai Thu Le, Saori Mizuno-Iijima, Yoko Daitoku, Miyuki Ishida, Yoko Tanimoto, Kanako Kato, Atsushi Yoshiki, Kazuya Murata, Seiya Mizuno, Fumihiro Sugiyama
Summary: CABLES1 and CABLES2 play important roles in cell cycle regulation and tumor suppression. A new Cables2 knock-in reporter mouse model was generated, confirming the expression of Cables2 in various mouse tissues and revealing its interaction with CDK5.
EXPERIMENTAL ANIMALS
(2021)
Article
Veterinary Sciences
Hayate Suzuki, Tra Thi Huong Dinh, Yoko Daitoku, Yoko Tanimoto, Kanako Kato, Takuya Azami, Masatsugu Ema, Kazuya Murata, Seiya Mizuno, Fumihiro Sugiyama
EXPERIMENTAL ANIMALS
(2019)