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May 2024

An intronic CTG triplet repeat expansion in the transcription factor gene TCF4 frequently underlies a common age-related corneal disease called Fuchs endothelial corneal dystrophy (FECD). This image depicts two distinct mechanisms of downstream pathogenicity in affected corneal endothelial cells elicited by the repeat: TCF4 isoform dysregulation on the left as visualized via RNAScope staining (white puncta), and toxic repeat-containing RNA foci on the right visualized via fluorescence in situ hybridization (red foci). See Bhattacharyya et al. Download May’s cover page.

Image Credit: Nihar Bhattacharyya

Editorial

A general passion

Gregory S. Barsh, Gregory P. Copenhaver

Research Articles

Collaborative Cross mice have diverse phenotypic responses to infection with Methicillin-resistant Staphylococcus aureus USA300

Aravindh Nagarajan, Kristin Scoggin, Jyotsana Gupta, Manuchehr Aminian, L. Garry Adams, Michael Kirby, David Threadgill, Helene Andrews-Polymenis

A comprehensive genome-wide cross-trait analysis of sexual factors and uterine leiomyoma

Xueyao Wu, Changfeng Xiao, Danielle Rasooly, Xunying Zhao, Cynthia Casson Morton, Xia Jiang, C. Scott Gallagher

Mitochondrial genome fragmentation is correlated with increased rates of molecular evolution

Tomáš Najer, Jorge Doña, Aleš Buček, Andrew D. Sweet, Oldřich Sychra, Kevin P. Johnson

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J. Hafford-Tear, Amanda N. Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R. Jeffries, Michael E. Cheetham, Kirithika Muthusamy, Alison J. Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J. Tuft, Alice E. Davidson

Resf1 is a compound G4 quadruplex-associated tumor suppressor for triple negative breast cancer

Megan R. Majocha, Devin E. Jackson, Ngoc-Han Ha, Ruhul Amin, Marie Pangrácová, Christina R. Ross, Howard H. Yang, Maxwell P. Lee, Kent W. Hunter

LRK-1/LRRK2 and AP-3 regulate trafficking of synaptic vesicle precursors through active zone protein SYD-2/Liprin-α

Sravanthi S. P. Nadiminti, Shirley B. Dixit, Neena Ratnakaran, Anushka Deb, Sneha Hegde, Sri Padma Priya Boyanapalli, Sierra Swords, Barth D. Grant, Sandhya P. Koushika

iGWAS: Image-based genome-wide association of self-supervised deep phenotyping of retina fundus images

Ziqian Xie, Tao Zhang, Sangbae Kim, Jiaxiong Lu, Wanheng Zhang, Cheng-Hui Lin, Man-Ru Wu, Alexander Davis, Roomasa Channa, Luca Giancardo, Han Chen, Sui Wang, Rui Chen, Degui Zhi

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay

Christopher T. Pappas, Rachel M. Mayfield, Ava E. Dickerson, Lei Mi-Mi, Carol C. Gregorio

Modelling daisy quorum drive: A short-term bridge across engineered fitness valleys

Frederik J. H. de Haas, Léna Kläy, Florence Débarre, Sarah P. Otto

Queuosine biosynthetic enzyme, QueE moonlights as a cell division regulator

Samuel A. Adeleye, Srujana S. Yadavalli

Cryptococcus neoformans Slu7 ensures nuclear positioning during mitotic progression through RNA splicing

Vishnu Priya Krishnan, Manendra Singh Negi, Raghavaram Peesapati, Usha Vijayraghavan

Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation

Arnas Petrauskas, Daniel L. Fortunati, Arvind Reddy Kandi, Sai Shruti Pothapragada, Khushboo Agrawal, Amanjot Singh, Joern Huelsmeier, Jens Hillebrand, Georgia Brown, Dhananjay Chaturvedi, Jongbo Lee, Chunghun Lim, Georg Auburger, K. VijayRaghavan, Mani Ramaswami, Baskar Bakthavachalu

Physical interactions between specifically regulated subpopulations of the MCM and RNR complexes prevent genetic instability

Aurora Yáñez-Vilches, Antonia M. Romero, Marta Barrientos-Moreno, Esther Cruz, Román González-Prieto, Sushma Sharma, Alfred C. O. Vertegaal, Félix Prado

Transcription decouples estrogen-dependent changes in enhancer-promoter contact frequencies and spatial proximity

Luciana I. Gómez Acuña, Ilya Flyamer, Shelagh Boyle, Elias T. Friman, Wendy A. Bickmore

The distribution of fitness effects during adaptive walks using a simple genetic network

Nicholas L. V. O’Brien, Barbara Holland, Jan Engelstädter, Daniel Ortiz-Barrientos

Clock-dependent chromatin accessibility rhythms regulate circadian transcription

Ye Yuan, Qianqian Chen, Margarita Brovkina, E Josephine Clowney, Swathi Yadlapalli

miR-34a is a tumor suppressor in zebrafish and its expression levels impact metabolism, hematopoiesis and DNA damage

Sergey V. Prykhozhij, Kevin Ban, Zane L. Brown, Kim Kobar, Gabriel Wajnberg, Charlotte Fuller, Simi Chacko, Jacynthe Lacroix, Nicolas Crapoulet, Craig Midgen, Adam Shlien, David Malkin, Jason N. Berman

Her2 amplification, Rel-A, and Bach1 can influence APOBEC3A expression in breast cancer cells

Madeline Dennis, Alyssa Hurley, Nicholas Bray, Cameron Cordero, Jose Ilagan, Tony M. Mertz, Steven A. Roberts

Paramutation at the maize pl1 locus is associated with RdDM activity at distal tandem repeats

Natalie C. Deans, Joy-El R. B. Talbot, Mowei Li, Cristian Sáez-González, Iris Hövel, Darren Heavens, Maike Stam, Jay B. Hollick

Single-cell and single-nucleus RNA-sequencing from paired normal-adenocarcinoma lung samples provide both common and discordant biological insights

Sébastien Renaut, Victoria Saavedra Armero, Dominique K. Boudreau, Nathalie Gaudreault, Patrice Desmeules, Sébastien Thériault, Patrick Mathieu, Philippe Joubert, Yohan Bossé

Adaptations to nitrogen availability drive ecological divergence of chemosynthetic symbionts

Isidora Morel-Letelier, Benedict Yuen, A. Carlotta Kück, Yolanda E. Camacho-García, Jillian M. Petersen, Minor Lara, Matthieu Leray, Jonathan A. Eisen, Jay T. Osvatic, Olivier Gros, Laetitia G. E. Wilkins

Correction

Correction: Kinesin-2 transports Orco into the olfactory cilium of Drosophila melanogaster at specific developmental stages

Swadhin Chandra Jana, Priya Dutta, Akanksha Jain, Anjusha Singh, Lavanya Adusumilli, Mukul Girotra, Diksha Kumari, Seema Shirolikar, Krishanu Ray

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