Article
Medicine, Research & Experimental
Harald Lahm, Meiwen Jia, Martina Dressen, Felix Wirth, Nazan Puluca, Ralf Gilsbach, Bernard D. Keavney, Julie Cleuziou, Nicole Beck, Olga Bondareva, Elda Dzilic, Melchior Burri, Karl C. Konig, Johannes A. Ziegelmuller, Claudia Abou-Ajram, Irina Neb, Zhong Zhang, Stefanie A. Doppler, Elisa Mastantuono, Peter Lichtner, Gertrud Eckstein, Jurgen Horer, Peter Ewert, James R. Priest, Lutz Hein, Rudiger Lange, Thomas Meitinger, Heather J. Cordell, Bertram Mueller-Myhsok, Markus Krane
Summary: Genetic factors have a significant impact on the development of congenital heart disease (CHD), with specific SNP-carrying genes identified in a genome-wide association study of over 4000 CHD patients and 8000 healthy controls. These genes, including MACROD2, GOSR2, WNT3, and MSX7, play crucial functional roles in heart development during embryonic and newborn stages.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Biology
Asano Ishikawa, Shun Yamanouchi, Wataru Iwasaki, Jun Kitano
Summary: The study investigates the presence of copy number variations (CNVs) associated with freshwater colonization in fishes. It identifies 23 genes whose copy number increases are related to adaptation to freshwater environments. These genes are involved in peptide receptor activity, hexosyltransferase activity, and unsaturated fatty acid metabolism. The study also reveals that certain genes involved in fatty acid metabolism, immune function, and thyroid hormone metabolism show copy number increases in freshwater populations compared to marine ancestral populations.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Evolutionary Biology
Yawako W. Kawaguchi, Yuki Tsuchikane, Keisuke Tanaka, Teruaki Taji, Yutaka Suzuki, Atsushi Toyoda, Motomi Ito, Yasuyuki Watano, Tomoaki Nishiyama, Hiroyuki Sekimoto, Takashi Tsuchimatsu
Summary: In this study, it was found that the genome size variation in the unicellular Zygnematophycean alga, Closterium peracerosum-strigosum-littorale (C. psl.) complex, is heritable and mainly attributed to genome-wide copy number variation (CNV). The CNV was more frequently observed in genes with stage-specific expression and some of these genes showed dosage compensation. The nonrandom patterns in gene duplications and associated expression changes contribute to the extensive genome size variation in the C. psl. complex.
GENOME BIOLOGY AND EVOLUTION
(2023)
Article
Plant Sciences
Preston Hurst, James C. Schnable, David R. Holding
Summary: Tandem duplication can lead to copy number variation and functional novelty in genes, as well as diversity between individuals in a species. In maize, the alpha-zein gene family copies show conservation in both gene sequence and gene regulation patterns between different inbreds, even though there may be differences in overall expression levels.
Article
Agronomy
David G. Heckel
Summary: Gene duplication has long been known to generate evolutionary diversity, but its implications for pesticide resistance are just beginning to be understood. Transposable elements may facilitate this process, but the mechanistic details remain obscure and unpredictable. New developments in DNA sequencing technology and genome assembly offer promise for revealing more examples, but caution is needed in interpreting the results and validation through independent means is crucial.
PEST MANAGEMENT SCIENCE
(2022)
Article
Plant Sciences
Seongmin Hong, Yong Pyo Lim, Suk-Yoon Kwon, Ah-Young Shin, Yong-Min Kim
Summary: In polyploids, whole genome duplication plays a significant role in genome expansion, evolution, and diversification. The flowering-time gene family, one of the largest expanded gene families in plants, has functionally diversified through evolution, providing advantages for plant adaptation and survival.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Hematology
Sylvain Mareschal, Anna Palau, Johan Lindberg, Philippe Ruminy, Christer Nilsson, Sofia Bengtzen, Marie Engvall, Anna Eriksson, Anne Neddermeyer, Vinciane Marchand, Monika Jansson, My Bjorklund, Fabrice Jardin, Mattias Rantalainen, Andreas Lennartsson, Lucia Cavelier, Henrik Gronberg, Soren Lehmann
Summary: Next-generation sequencing-based techniques can replace conventional cytogenetic analysis for karyotyping, but efforts are needed to cover lowly expressed fusion transcripts.
Article
Genetics & Heredity
David W. Loehlin, Jeremiah Y. Kim, Caleigh O. Paster
Summary: This study investigates the contribution of locally acting cis- and globally acting trans-regulatory factors to the expression interactions of tandem duplicated genes. The results suggest that cis-regulatory interactions between duplicated blocks could be responsible for the high expression levels observed.
Article
Biotechnology & Applied Microbiology
Ailan Wang, Wei Chen, Shiheng Tao
Summary: In the Caenorhabditis genus, extensive species-specific tandem duplications and occasional gene loss drove the rapid evolution of the F-box gene family, leading to complex gene structural variation and diversified functions affecting growth and development within and among Caenorhabditis species. Functional divergence of F-box genes in Caenorhabditis species was suggested to be achieved through sub-functionalization by highly divergent stage-specific expression patterns. This study lays the foundation for future functional studies on the evolution of F-box genes in the Caenorhabditis genome.
Article
Genetics & Heredity
Haiming Yuan, Shaofang Shangguan, Zhengchang Li, Jingsi Luo, Jiasun Su, Ruen Yao, Shun Zhang, Chen Liang, Qian Chen, Zhijie Gao, Yanli Zhu, Shujie Zhang, Wei Li, Weiliang Lu, Yu Zhang, Hua Xie, Fang Liu, Qingming Wang, Yangyang Lin, Liying Liu, Xiuming Wang, Liyang Liang, Jianmin Zhong, Haibo Li, Haiyan Qiu, Huifeng Zhang, Mei Yan, Maimaiti Mireguli, Yanhui Liu, Dan Zhang, Hongying Wang, Haitao Lv, Bobo Xie, Chunrong Gui, Xiaodai Cui, Liping Zou, Jian Wang, James F. Gusella, Yiping Shen, Xiaoli Chen
Summary: The study aimed to analyze the CNV landscape in Chinese pediatric patients with developmental disorders. The results showed that there were differences in CNV frequencies and phenotypic diversity between Chinese and Western patients. The study highlighted the importance of understanding genetic variations in different populations for precision medicine.
GENETICS IN MEDICINE
(2021)
Review
Microbiology
Estefani Garcia-Rios, Jose Manuel Guillamon
Summary: This review summarizes recent research on the evolutionary trajectories of wine yeasts, with a focus on the domestication hallmarks identified in this group of yeast.
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
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A. Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P. Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G. D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S. Ricci, Angela L. Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C. Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri
Summary: This study provides an overview of the clinical phenotypes associated with 4 SMN2 copies. The results show variability in untreated patients, ranging from type II to type IV, with an overall reduction in functional scores as age increases. The risk of losing ambulation is significantly associated with SMA type, and women have a lower risk of losing ambulation compared to men.
ANNALS OF NEUROLOGY
(2023)
Article
Plant Sciences
Shuai Nie, Xue-Chan Tian, Lei Kong, Shi-Wei Zhao, Zhao-Yang Chen, Si-Qian Jiao, Yousry A. El-Kassaby, Ilga Porth, Fu-Sheng Yang, Wei Zhao, Jian-Feng Mao
Summary: This study reveals the origin and evolutionary history of Ericales, uncovering its ancient complex allopolyploid origin and detecting extensive gene loss following polyploidization. This finding provides a new explanation for genetic variation and adaptive diversity in Ericales.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Multidisciplinary Sciences
Dayeon Shin, Kyung Won Lee
Summary: Three AMY1 genetic variants are significantly associated with the incidence of type 2 diabetes in patients with carbohydrate intake greater than 65% of total energy, specifically in Korean women. Korean women with the rs6696797, rs4244372, and rs10881197 genotypes may benefit from a low-carbohydrate diet to prevent the future risk of type 2 diabetes.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Joel M. Alves, Miguel Carneiro, Jade Y. Cheng, Ana Lemos de Matos, Masmudur M. Rahman, Liisa Loog, Paula F. Campos, Nathan Wales, Anders Eriksson, Andrea Manica, Tanja Strive, Stephen C. Graham, Sandra Afonso, Diana J. Bell, Laura Belmont, Jonathan P. Day, Susan J. Fuller, Stephane Marchandeau, William J. Palmer, Guillaume Queney, Alison K. Surridge, Filipe G. Vieira, Grant McFadden, Rasmus Nielsen, M. Thomas P. Gilbert, Pedro J. Esteves, Nuno Ferrand, Francis M. Jiggins
Article
Biochemistry & Molecular Biology
Michael J. Jowers, Santiago Sanchez-Ramirez, Susana Lopes, Igor Karyakin, Valery Dombrovski, Abdeljebbar Qninba, Thijs Valkenburg, Nuno Onofre, Nuno Ferrand, Pedro Beja, Luis Palma, Raquel Godinho
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2019)
Article
Genetics & Heredity
Klaus-Peter Koepfli, Gaik Tamazian, David Wildt, Pavel Dobrynin, Changhoon Kim, Paul B. Frandsen, Raquel Godinho, Andrey A. Yurchenko, Aleksey Komissarov, Ksenia Krasheninnikova, Sergei Kliver, Sofia Kolchanova, Margarida Goncalves, Miguel Carneiro, Pedro Vaz Pinto, Nuno Ferrand, Jesus E. Maldonado, Gina M. Ferrie, Leona Chemnick, Oliver A. Ryder, Warren E. Johnson, Pierre Comizzoli, Stephen J. O'Brien, Budhan S. Pukazhenthi
G3-GENES GENOMES GENETICS
(2019)
Article
Ecology
Joana M. Hancock, Sara Vieira, Lucio Taraveira, Aladino Santos, Vanessa Schmitt, Alcides Semedo, Ana R. Patricio, Nuno Ferrand, Helena Goncalves, Fernando Sequeira
JOURNAL OF EXPERIMENTAL MARINE BIOLOGY AND ECOLOGY
(2019)
Editorial Material
Medicine, Research & Experimental
Stephane Marchandeau, Guillaume Queney, Joel M. Alves, Miguel Carneiro, Nuno Ferrand
M S-MEDECINE SCIENCES
(2019)
Article
Multidisciplinary Sciences
Freek T. Bakker, Alexandre Antonelli, Julia Clarke, Joseph A. Cook, Scott Edwards, Per G. P. Ericson, Soren Faurby, Nuno Ferrand, Magnus Gelang, Rosemary G. Gillespie, Martin Irestedt, Kennet Lundin, Ellen Larsson, Pavel Matos-Maravi, Johannes Mueller, Ted von Proschwitz, George K. Roderick, Alexander Schliep, Niklas Wahlberg, John Wiedenhoeft, Mari Kallersjo
Article
Evolutionary Biology
Scott Edwards, V. V. Robin, Nuno Ferrand, Craig Moritz
Summary: Comparative phylogeography, as a discipline focusing on the shared lineage histories of species and integrating genomics with landscape evolution, provides an important perspective on evolutionary history. It serves as a bridge between landscape genomics and speciation, offering educational opportunities and collaboration possibilities with local communities and indigenous peoples.
GENOME BIOLOGY AND EVOLUTION
(2022)
Article
Ornithology
Pedro Andrade, Tiago M. Rodrigues, Delphine Muths, Sandra Afonso, Susana Lopes, Raquel Godinho, Manuel Leitao, Yves Ferrand, Nuno Ferrand, David Goncalves
Summary: The study found that the Azorean populations of Eurasian Woodcock show a trend of reduced genetic diversity and consistent differentiation from mainland populations. It is likely that these populations have diverged recently from their mainland counterparts, but gene flow is currently restricted.
Article
Ecology
Antonio J. Carpio, Jose Melo-Ferreira, Monica Martinez-Haro, Liliana Farelo, Rita Campos, Paulo C. Alves, Pelayo Acevedo
Summary: The study found that populations with introgressed mtDNA occupy marginal environmental conditions compared to the complete niche of L. granatensis; both latitude and environment, along with their combined effects, explain the variation in introgression frequencies; after controlling for latitude, clines in mtDNA introgression frequency are associated with transitions in environmental gradients.
JOURNAL OF BIOGEOGRAPHY
(2021)
Article
Multidisciplinary Sciences
Sara Freitas, Malgorzata A. Gazda, Miguel A. Rebelo, Antonio J. Munoz-Pajares, Carlos Vila-Vicosa, Antonio Munoz-Merida, Luis M. Goncalves, David Azevedo-Silva, Sandra Afonso, Isaura Castro, Pedro H. Castro, Mariana Sottomayor, Albano Beja-Pereira, Joao Tereso, Nuno Ferrand, Elsa Goncalves, Antero Martins, Miguel Carneiro, Herlander Azevedo
Summary: This study used whole-genome resequencing to elucidate different aspects of the recent evolutionary history of grapevine, supporting a model in which a central domestication event was followed by postdomestication hybridization with local wild genotypes. The research found a strong introgression signature in modern wine varieties across Western Europe, with a subset of Iberian grapevine varieties showing large introgression tracts. The analysis demonstrated how regions under selection in wild populations from the Iberian Peninsula were preferentially passed on to the cultivated varieties through gene flow.
Article
Communication
Rita Campos, Jose Monteiro, Claudia Carvalho
JCOM-JOURNAL OF SCIENCE COMMUNICATION
(2020)
Article
Biochemistry & Molecular Biology
Joana L. Rocha, Pedro Vaz Pinto, Hans R. Siegismund, Matthias Meyer, Bettine Jansen van Vuuren, Luis Verissimo, Nuno Ferrand, Raquel Godinho
Summary: The study explores the factors driving the evolution of the sable antelope in southcentral Africa by analyzing complete mitogenomes. The results suggest that both climatic events and geomorphological barriers have shaped the species' patterns of diversification and vicariance. The use of comprehensive mitogenomic data sets contributes to a better understanding of environmental, geomorphological, and evolutionary patterns in Africa throughout the Quaternary.
Article
Communication
Rita Campos
Summary: Participatory science communication models can help young children connect with local policies and science-related content, understand their preferences for city landscapes, and co-produce new scientific knowledge.
JCOM-JOURNAL OF SCIENCE COMMUNICATION
(2022)
Review
Multidisciplinary Sciences
Joana Sousa, Rita Campos, Orlando Mendes, Paula Duarte Lopes, Madalena Matias, Ana Paula Rosa, Raul Mendes Fernandes, Cristina Cruz, Bucar Indjai, Adilson Infande, Maira da Costa, Goncalo Salvaterra, Juelson Lourenco, Dionisio Tavares, Djone Camala, Andrew Ainslie, Luis Catarino
Summary: This systematic review aims to summarize the literature on the mangrove forests and mangrove rice spaces in Guinea-Bissau, and analyze how they have been represented in the literature. The study found that despite their contiguous and interrelated nature in coastal environments, mangrove forests and mangrove rice have been studied and analyzed independently in the literature. This review provides valuable information for coastal area management, research, and strategies for climate change adaptation.
Article
Biodiversity Conservation
Sofia Marques Silva, Jose A. Davila, Bryson Voirin, Susana Lopes, Nuno Ferrand, Nadia Moraes-Barros
BIODIVERSITY AND CONSERVATION
(2018)
