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Table of Contents

April 2021

The central bearded dragon (Pogona vitticeps) is an iconic Australian species with temperature induced sex reversal, which causes genetic males to develop as phenotypic females. Because of this trait, female development in this species can occur either under the control of sex chromosomes, or via the influence of incubation temperature. Comparing gene expression patterns between these two female types during embryonic development revealed that two distinct pathways are responsible for driving female development. This showed for the first time the unique transcriptional profile of embryos undergoing sex reversal, providing new insights into the development of this fascinating species. See Whiteley et al.

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Image Credit: Arthur Georges

Viewpoints

Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition

Sofie V. Nielsen, Rasmus Hartmann-Petersen, Amelie Stein, Kresten Lindorff-Larsen

Research Articles

Leveraging expression from multiple tissues using sparse canonical correlation analysis and aggregate tests improves the power of transcriptome-wide association studies

Helian Feng, Nicholas Mancuso, Alexander Gusev, Arunabha Majumdar, Megan Major, Bogdan Pasaniuc, Peter Kraft

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J. Gould, Sneha Yennawar, Alexis T. Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M. Rolls, Laura Anne Lowery, Santhosh Girirajan

ARID1A regulates R-loop associated DNA replication stress

Shuhe Tsai, Louis-Alexandre Fournier, Emily Yun-chia Chang, James P. Wells, Sean W. Minaker, Yi Dan Zhu, Alan Ying-Hsu Wang, Yemin Wang, David G. Huntsman, Peter C. Stirling

Analysis of cell-type-specific chromatin modifications and gene expression in Drosophila neurons that direct reproductive behavior

Colleen M. Palmateer, Shawn C. Moseley, Surjyendu Ray, Savannah G. Brovero, Michelle N. Arbeitman

Ubiquitin-protein ligase Ubr5 cooperates with hedgehog signalling to promote skeletal tissue homeostasis

David Mellis, Katherine A. Staines, Silvia Peluso, Ioanna Ch. Georgiou, Natalie Dora, Malgorzata Kubiak, Rob van’t Hof, Michela Grillo, Colin Farquharson, Elaine Kinsella, Anna Thornburn, Stuart H. Ralston, Donald M. Salter, Natalia A. Riobo-Del Galdo, Robert E. Hill, Mark Ditzel

Virus-derived variation in diverse human genomes

Shohei Kojima, Anselmo Jiro Kamada, Nicholas F. Parrish

Aurora kinase A is essential for meiosis in mouse oocytes

Cecilia S. Blengini, Patricia Ibrahimian, Michaela Vaskovicova, David Drutovic, Petr Solc, Karen Schindler

Pathways and signatures of mutagenesis at targeted DNA nicks

Yinbo Zhang, Luther Davis, Nancy Maizels

A complex genetic architecture in zebrafish relatives Danio quagga and D. kyathit underlies development of stripes and spots

Braedan M. McCluskey, Susumu Uji, Joseph L. Mancusi, John H. Postlethwait, David M. Parichy

Genetic analysis of the septal peptidoglycan synthase FtsWI complex supports a conserved activation mechanism for SEDS-bPBP complexes

Ying Li, Han Gong, Rui Zhan, Shushan Ouyang, Kyung-Tae Park, Joe Lutkenhaus, Shishen Du

Identification of common predisposing loci to hematopoietic cancers in four dog breeds

Benoît Hédan, Édouard Cadieu, Maud Rimbault, Amaury Vaysse, Caroline Dufaure de Citres, Patrick Devauchelle, Nadine Botherel, Jérôme Abadie, Pascale Quignon, Thomas Derrien, Catherine André

PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer’s disease

Alex G. Nackenoff, Timothy J. Hohman, Sarah M. Neuner, Carolyn S. Akers, Nicole C. Weitzel, Alena Shostak, Shawn M. Ferguson, Bret Mobley, David A. Bennett, Julie A. Schneider, Angela L. Jefferson, Catherine C. Kaczorowski, Matthew S. Schrag

Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank

Keira J. A. Johnston, Joey Ward, Pradipta R. Ray, Mark J. Adams, Andrew M. McIntosh, Blair H. Smith, Rona J. Strawbridge, Theodore J. Price, Daniel J. Smith, Barbara I. Nicholl, Mark E. S. Bailey

ELAV/Hu RNA binding proteins determine multiple programs of neural alternative splicing

Seungjae Lee, Lu Wei, Binglong Zhang, Raeann Goering, Sonali Majumdar, Jiayu Wen, J. Matthew Taliaferro, Eric C. Lai

MRLocus: Identifying causal genes mediating a trait through Bayesian estimation of allelic heterogeneity

Anqi Zhu, Nana Matoba, Emma P. Wilson, Amanda L. Tapia, Yun Li, Joseph G. Ibrahim, Jason L. Stein, Michael I. Love

Caenorhabditis elegans PTR/PTCHD PTR-18 promotes the clearance of extracellular hedgehog-related protein via endocytosis

Hirohisa Chiyoda, Masahiko Kume, Carla Cadena del Castillo, Kenji Kontani, Anne Spang, Toshiaki Katada, Masamitsu Fukuyama

Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults

Binglan Li, Yogasudha Veturi, Anurag Verma, Yuki Bradford, Eric S. Daar, Roy M. Gulick, Sharon A. Riddler, Gregory K. Robbins, Jeffrey L. Lennox, David W. Haas, Marylyn D. Ritchie

Two transcriptionally distinct pathways drive female development in a reptile with both genetic and temperature dependent sex determination

Sarah L. Whiteley, Clare E. Holleley, Susan Wagner, James Blackburn, Ira W. Deveson, Jennifer A. Marshall Graves, Arthur Georges

Extracellular spreading of Wingless is required for Drosophila oogenesis

Xiaoxi Wang, Kimberly S. LaFever, Indrayani Waghmare, Andrea Page-McCaw

Control of pre-replicative complex during the division cycle in Chlamydomonas reinhardtii

Amy E. Ikui, Noriko Ueki, Kresti Pecani, Frederick R. Cross

Optogenetic delivery of trophic signals in a genetic model of Parkinson’s disease

Alvaro Ingles-Prieto, Nikolas Furthmann, Samuel H. Crossman, Alexandra-Madelaine Tichy, Nina Hoyer, Meike Petersen, Vanessa Zheden, Julia Biebl, Eva Reichhart, Attila Gyoergy, Daria E. Siekhaus, Peter Soba, Konstanze F. Winklhofer, Harald Janovjak

Novel Variance-Component TWAS method for studying complex human diseases with applications to Alzheimer’s dementia

Shizhen Tang, Aron S. Buchman, Philip L. De Jager, David A. Bennett, Michael P. Epstein, Jingjing Yang

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

Thomas K. Pak, Calvin S. Carter, Qihong Zhang, Sunny C. Huang, Charles Searby, Ying Hsu, Rebecca J. Taugher, Tim Vogel, Christopher C. Cychosz, Rachel Genova, Nina N. Moreira, Hanna Stevens, John A. Wemmie, Andrew A. Pieper, Kai Wang, Val C. Sheffield

Widespread imprinting of transposable elements and variable genes in the maize endosperm

Sarah N. Anderson, Peng Zhou, Kaitlin Higgins, Yaniv Brandvain, Nathan M. Springer

A structural signature motif enlightens the origin and diversification of nuclear receptors

Brice Beinsteiner, Gabriel V. Markov, Stéphane Erb, Yassmine Chebaro, Alastair G. McEwen, Sarah Cianférani, Vincent Laudet, Dino Moras, Isabelle M. L. Billas

The genomics of rapid climatic adaptation and parallel evolution in North American house mice

Kathleen G. Ferris, Andreas S. Chavez, Taichi A. Suzuki, Elizabeth J. Beckman, Megan Phifer-Rixey, Ke Bi, Michael W. Nachman

DNA methylation patterns expose variations in enhancer-chromatin modifications during embryonic stem cell differentiation

Adi Alajem, Hava Roth, Sofia Ratgauzer, Danny Bavli, Alex Motzik, Shlomtzion Lahav, Itay Peled, Oren Ram

Opposing roles for Egalitarian and Staufen in transport, anchoring and localization of oskar mRNA in the Drosophila oocyte

Sabine Mohr, Andrew Kenny, Simon T. Y. Lam, Miles B. Morgan, Craig A. Smibert, Howard D. Lipshitz, Paul M. Macdonald

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease

Pyry Helkkula, Tuomo Kiiskinen, Aki S. Havulinna, Juha Karjalainen, Seppo Koskinen, Veikko Salomaa, Mark J. Daly, Aarno Palotie, Ida Surakka, Samuli Ripatti, FinnGen

The canonical α-SNAP is essential for gametophytic development in Arabidopsis

Fei Liu, Ji-Peng Li, Lu-Shen Li, Qi Liu, Shan-Wei Li, Ming-Lei Song, Sha Li, Yan Zhang

Mitogen-activated protein kinase 6 negatively regulates secondary wall biosynthesis by modulating MYB46 protein stability in Arabidopsis thaliana

Jong Hee Im, Jae-Heung Ko, Won-Chan Kim, Brent Crain, Daniel Keathley, Kyung-Hwan Han

The RabGAP TBC-11 controls Argonaute localization for proper microRNA function in C. elegans

Pascale Michaud, Vivek Nilesh Shah, Pauline Adjibade, Francois Houle, Miguel Quévillon Huberdeau, Rachel Rioux, Camille Lavoie-Ouellet, Weifeng Gu, Rachid Mazroui, Martin J. Simard

The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis

Virginia L. King, Nathan K. Leclair, Alyssa M. Coulter, Kenneth G. Campellone

CRISPR gRNA phenotypic screening in zebrafish reveals pro-regenerative genes in spinal cord injury

Marcus Keatinge, Themistoklis M. Tsarouchas, Tahimina Munir, Nicola J. Porter, Juan Larraz, Davide Gianni, Hui-Hsin Tsai, Catherina G. Becker, David A. Lyons, Thomas Becker

Cell volume homeostatically controls the rDNA repeat copy number and rRNA synthesis rate in yeast

José E. Pérez-Ortín, Adriana Mena, Marina Barba-Aliaga, Abhyudai Singh, Sebastián Chávez, José García-Martínez

Aicardi-Goutières syndrome-associated gene SAMHD1 preserves genome integrity by preventing R-loop formation at transcription–replication conflict regions

Kiwon Park, Jeongmin Ryoo, Heena Jeong, Minsu Kim, Sungwon Lee, Sung-Yeon Hwang, Jiyoung Ahn, Doyeon Kim, Hyungseok C. Moon, Daehyun Baek, Kwangsoo Kim, Hye Yoon Park, Kwangseog Ahn

Trehalose and α-glucan mediate distinct abiotic stress responses in Pseudomonas aeruginosa

Stuart D. Woodcock, Karl Syson, Richard H. Little, Danny Ward, Despoina Sifouna, James K. M. Brown, Stephen Bornemann, Jacob G. Malone

Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study

Mark Gormley, James Yarmolinsky, Tom Dudding, Kimberley Burrows, Richard M. Martin, Steven Thomas, Jessica Tyrrell, Paul Brennan, Miranda Pring, Stefania Boccia, Andrew F. Olshan, Brenda Diergaarde, Rayjean J. Hung, Geoffrey Liu, Danny Legge, Eloiza H. Tajara, Patricia Severino, Martin Lacko, Andrew R. Ness, George Davey Smith, Emma E. Vincent, Rebecca C. Richmond

Evolutionary dynamics of the human pseudoautosomal regions

Bruno Monteiro, Miguel Arenas, Maria João Prata, António Amorim

Intercellular viral spread and intracellular transposition of Drosophila gypsy

Richard M. Keegan, Lillian R. Talbot, Yung-Heng Chang, Michael J. Metzger, Josh Dubnau

Coordinating the morphogenesis-differentiation balance by tweaking the cytokinin-gibberellin equilibrium

Alon Israeli, Yogev Burko, Sharona Shleizer-Burko, Iris Daphne Zelnik, Noa Sela, Mohammad R. Hajirezaei, Alisdair R. Fernie, Takayuki Tohge, Naomi Ori, Maya Bar

Transcriptome-wide investigation of stop codon readthrough in Saccharomyces cerevisiae

Kotchaphorn Mangkalaphiban, Feng He, Robin Ganesan, Chan Wu, Richard Baker, Allan Jacobson

Mapping the degradation pathway of a disease-linked aspartoacylase variant

Sarah K. Gersing, Yong Wang, Martin Grønbæk-Thygesen, Caroline Kampmeyer, Lene Clausen, Martin Willemoës, Claes Andréasson, Amelie Stein, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

Corrections

Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Connor A. Emdin, Mary E. Haas, Amit V. Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program, Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan

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