Article
Gastroenterology & Hepatology
Jingxuan Shan, Andre Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Domling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane
Summary: In this study, a deleterious variant of the uncharacterized gene FCHSD1 was identified in patients with PSVD, and it was shown that this variant leads to aberrant FCHSD1 structure and function, causing overactivation of the mTOR pathway and potentially contributing to the development of PSVD.
Review
Cell Biology
Xiuchun Lin
Summary: Structural variations in the genome are closely related to human health and disease. Detecting and identifying pathogenic synonymous mutations is crucial for studying disease mechanisms and implementing personalized medicine.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Daniel J. Cotter, Timothy H. Webster, Melissa A. Wilson
Summary: This article investigates the various factors influencing genetic variation and focuses on the genetic diversity, divergence, and linkage disequilibrium in different regions of the X chromosome. The study finds that different regions of the X chromosome exhibit unique patterns in terms of genetic diversity and linkage disequilibrium, which are also related to the evolutionary history of specific human populations.
Article
Clinical Neurology
Rebecca R. Valentino, Michael G. Heckman, Patrick W. Johnson, Matthew C. Baker, Alexandra Soto-Beasley, Ronald L. Walton, Shunsuke Koga, Shanu F. Roemer, EunRan Suh, Ryan J. Uitti, John Q. Trojanowski, Murray Grossman, Vivianna M. Van Deerlin, Rosa Rademakers, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross
Summary: The study aimed to investigate the association between stable polymorphisms defining mitochondrial haplogroups in mitochondrial DNA (mtDNA) and the risk of Pick disease. While no individual mtDNA haplogroups were significantly associated with Pick disease risk, some haplogroups like W and subhaplogroup H4 showed nominal associations with increased risk of Pick disease. This indicates that mtDNA variation may not be a direct driver of the disease, but could potentially influence disease susceptibility. Ongoing genetic assessments in larger cohorts of Pick disease are currently underway.
Article
Biochemical Research Methods
Swarnendu Tripathi, Nikita R. Dsouza, Raul Urrutia, Michael T. Zimmermann
Summary: This study evaluated missense variants from seven RAS genes and characterized hotspot variants using sequence- and 3D structure-based scores. New insights into the mechanistic inferences of both hot-spot and non-hotspot variants were reported. The study also demonstrated a lack of correlation between 3D scores and DNA sequence-based scores commonly used in Clinical Genetics.
Review
Virology
Kei Fujiwara
Summary: Chronic hepatitis B virus (HBV) causes serious clinical problems, and basic research is essential to eradicate and cure it. Genetic alterations in HBV include both traditional forms of structural variations (SVs) and complex SVs. Bioinformatic analysis has revealed the presence of complex SVs in the HBV genome, influencing genetic diversity in orthohepadnaviruses. Further studies are needed to understand the virologic and clinical roles of SVs in HBV genomes.
Article
Biology
Ming-Shan Wang, Jin-Jin Zhang, Xing Guo, Ming Li, Rachel Meyer, Hidayat Ashari, Zhu-Qing Zheng, Sheng Wang, Min-Sheng Peng, Yu Jiang, Mukesh Thakur, Chatmongkon Suwannapoom, Ali Esmailizadeh, Nalini Yasoda Hirimuthugoda, Moch Syamsul Arifin Zein, Szilvia Kusza, Hamed Kharrati-Koopaee, Lin Zeng, Yun-Mei Wang, Ting-Ting Yin, Min-Min Yang, Ming-Li Li, Xue-Mei Lu, Emiliano Lasagna, Simone Ceccobelli, Humpita Gamaralalage Thilini Nisanka Gunwardana, Thilina Madusanka Senasig, Shao-Hong Feng, Hao Zhang, Abul Kashem Fazlul Haque Bhuiyan, Muhammad Sajjad Khan, Gamamada Liyanage Lalanie Pradeepa Silva, Le Thi Thuy, Okeyo A. Mwai, Mohamed Nawaz Mohamed Ibrahim, Guojie Zhang, Kai-Xing Qu, Olivier Hanotte, Beth Shapiro, Mirte Bosse, Dong-Dong Wu, Jian-Lin Han, Ya-Ping Zhang
Summary: Despite having higher genetic diversity, modern domestic chickens experienced a significant population size decline during early domestication compared to their wild counterparts. This led to an increase in deleterious mutations in chicken genomes, challenging modern breeding programs to effectively eliminate these genetic loads. Positive selection was found to decrease the incidence but increase the frequency of deleterious SNPs in domestic chicken genomes.
Article
Biology
Jack D. Lester, Linda Vigilant, Paolo Gratton, Maureen S. McCarthy, Christopher D. Barratt, Paula Dieguez, Anthony Agbor, Paula Alvarez-Varona, Samuel Angedakin, Emmanuel Ayuk Ayimisin, Emma Bailey, Mattia Bessone, Gregory Brazzola, Rebecca Chancellor, Heather Cohen, Emmanuel Danquah, Tobias Deschner, Villard Ebot Egbe, Manasseh Eno-Nku, Annemarie Goedmakers, Anne-Celine Granjon, Josephine Head, Daniela Hedwig, R. Adriana Hernandez-Aguilar, Kathryn J. Jeffery, Sorrel Jones, Jessica Junker, Parag Kadam, Michael Kaiser, Ammie K. Kalan, Laura Kehoe, Ivonne Kienast, Kevin E. Langergraber, Juan Lapuente, Anne Laudisoit, Kevin Lee, Sergio Marrocoli, Vianet Mihindou, David Morgan, Geoffrey Muhanguzi, Emily Neil, Sonia Nicholl, Christopher Orbell, Lucy Jayne Ormsby, Liliana Pacheco, Alex Piel, Martha M. Robbins, Aaron Rundus, Crickette Sanz, Lilah Sciaky, Alhaji M. Siaka, Veronika Staedele, Fiona Stewart, Nikki Tagg, Els Ton, Joost van Schijndel, Magloire Kambale Vyalengerera, Erin G. Wessling, Jacob Willie, Roman M. Wittig, Yisa Ginath Yuh, Kyle Yurkiw, Klaus Zuberbuehler, Christophe Boesch, Hjalmar S. Kuehl, Mimi Arandjelovic
Summary: The genetic diversity of chimpanzees is largely influenced by isolation by distance, as shown by a diverse genetic structure exhibited with geographical expansion. In contrast to the historically recognized four subspecies, current research indicates a relatively high genetic connectivity among chimpanzees. The relatively permeable nature of geographical barriers has led to strong genetic connectivity among chimpanzees on a global scale.
COMMUNICATIONS BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Julie Blommaert, Claus-Peter Stelzer
Summary: There is considerable functional diversity of independently segregating genomic elements (ISEs) in Brachionus asplanchnoidis, with diverse meiotic transmission patterns and consequences on meiotic transmission and embryonic survival. The transmission and segregation patterns are more similar among members of a genetically homogeneous inbred line than among outbred members of the population.
SCIENTIFIC REPORTS
(2022)
Article
Plant Sciences
Nikita Gambhir, Zhian N. Kamvar, Rebecca Higgins, B. Sajeewa Amaradasa, Sydney E. Everhart
Summary: Exposure to sublethal fungicide doses can increase the frequency of insertions/deletions in certain strains of Sclerotinia sclerotiorum, while transposable element insertions are generally repressed. The frequency and distribution of mutations vary with genomic background.
Article
Multidisciplinary Sciences
Babu Valliyodan, Anne V. Brown, Juexin Wang, Gunvant Patil, Yang Liu, Paul I. Otyama, Rex T. Nelson, Tri Vuong, Qijian Song, Theresa A. Musket, Ruth Wagner, Pradeep Marri, Sam Reddy, Allen Sessions, Xiaolei Wu, David Grant, Philipp E. Bayer, Manish Roorkiwal, Rajeev K. Varshney, Xin Liu, David Edwards, Dong Xu, Trupti Joshi, Steven B. Cannon, Henry T. Nguyen
Summary: This study reported the genetic diversity and structure of 481 soybean accessions, identifying millions of SNPs and specific linages selected at distinct geographic locations. Conserved regions in cultivated varieties indicated selection during domestication, with most re-sequenced accessions showing high similarity to their genotyped counterparts. The study also identified errors in seed source or genotype tracking in approximately 5% of accessions.
Article
Genetics & Heredity
Johann S. Hawe, Rory Wilson, Katharina T. Schmid, Li Zhou, Lakshmi Narayanan Lakshmanan, Benjamin C. Lehne, Brigitte Kuehnel, William R. Scott, Matthias Wielscher, Yik Weng Yew, Clemens Baumbach, Dominic P. Lee, Eirini Marouli, Manon Bernard, Liliane Pfeiffer, Pamela R. Matias-Garcia, Matias Autio, Stephane Bourgeois, Christian Herder, Ville Karhunen, Thomas Meitinger, Holger Prokisch, Wolfgang Rathmann, Michael Roden, Sylvain Sebert, Jean Shin, Konstantin Strauch, Weihua Zhang, Wilson L. W. Tan, Stefanie M. Hauck, Juliane Merl-Pham, Harald Grallert, Eudes G. Barbosa, Thomas Illig, Annette Peters, Tomas Paus, Zdenka Pausova, Panos Deloukas, Roger S. Y. Foo, Marjo-Riitta Jarvelin, Jaspal S. Kooner, Marie Loh, Matthias Heinig, Christian Gieger, Melanie Waldenberger, John C. Chambers
Summary: This study focuses on the relationships between DNA sequence variation and DNA methylation, using blood samples from Europeans and South Asians. The findings reveal numerous SNP-CpG associations (meQTL) that are functionally relevant and associated with gene expression, metabolic variation, and clinical traits. Molecular interaction and colocalization analyses identified regulatory pathways linking meQTL loci to phenotypic variation.
Article
Agronomy
Lihuan Wang, Yaping Wang, Feishi Luan, Xian Zhang, Jingchao Zhao, Zhongzhou Yang, Shi Liu
Summary: Genetic analysis identified CmCLV3 as a candidate gene for variation in melon carpel number. Fine mapping narrowed down the location of the gene and identified a highly correlated SNP site in the coding region of CmCLV3. This study provides valuable genetic resources and molecular breeding tools for improving melon carpel number.
THEORETICAL AND APPLIED GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Du Jiao, Xiaorui Dong, Yingyan Yu, Chaochun Wei
Summary: The study revealed that the coronavirus family has 181 genes, with only 3 being highly conserved. The SARS-CoV-2 pan-genome consists of 13 core genes, showing a lower level of diversity compared to other RNA viruses. The three highly conserved genes in the coronavirus family and the core genes in the SARS-CoV-2 pan-genome could be potential targets for developing nucleic acid diagnostic reagents with reduced mutation potential.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Review
Ecology
Thorsten B. H. Reusch, Iliana B. Baums, Benjamin Werner
Summary: Somatic genetic variation may have a significant impact on long-lived, modular species, with sexual and asexual processes influencing the accumulation of genetic load and molecular evolution rates. Further research is needed to understand the fitness effects of SoGV, multilevel selection, and asexual selective sweeps.
TRENDS IN ECOLOGY & EVOLUTION
(2021)