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May 2019

Multicopper ferroxidases play a central role in iron homeostasis by catalyzing the oxidation of ferrous iron to ferric so it can bind to the circulating carrier transferrin. Analysis of biallelic variants in the HEPHL1 gene of a patient with hair abnormalities revealed that both variants adversely affect the ferroxidase activity. Furthermore, complete ablation of Hephl1 in mouse leads to a curly whisker (vibrissae) hair phenotype, supporting an important role for the ferroxidase activity of HEPHL1 in hair growth and hair disorders. Image of wild type (left) and littermate (right) Hephl1 knockout mouse with an insert showing hair abnormalities in patient with biallelic HEPHL1 variants. See Sharma et al.

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Image Credit: Sharma et al.

Research Articles

Mouse genome-wide association and systems genetics identifies Lhfp as a regulator of bone mass

Larry D. Mesner, Gina M. Calabrese, Basel Al-Barghouthi, Daniel M. Gatti, John P. Sundberg, Gary A. Churchill, Dana. A. Godfrey, Cheryl L. Ackert-Bicknell, Charles R. Farber

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Aleman, Louise C. Pyle, Biliana Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng-mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E. Urquhart, Graeme C.M. Black, Mohammad I. Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant S. Pawar, Alexander E. Katz, Laryssa A. Huryn, Robert B. Hufnagel, The Genomic Ascertainment Cohort, Sally A. Camper, Julia E. Richards, Lev Prasov

Temporal genomic contrasts reveal rapid evolutionary responses in an alpine mammal during recent climate change

Ke Bi, Tyler Linderoth, Sonal Singhal, Dan Vanderpool, James L. Patton, Rasmus Nielsen, Craig Moritz, Jeffrey M. Good

Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras

Makiko Yamada, Winson Cai, Laura A. Martin, Thierry N’Tumba-Byn, Marco Seandel

Oct1/Pou2f1 is selectively required for colon regeneration and regulates colon malignancy

Karina Vázquez-Arreguín, Claire Bensard, John C. Schell, Eric Swanson, Xinjian Chen, Jared Rutter, Dean Tantin

Meiotic gatekeeper STRA8 suppresses autophagy by repressing Nr1d1 expression during spermatogenesis in mice

Ianina C. Ferder, Leslie Fung, Yasuyo Ohguchi, Xiaoyu Zhang, Kara G. Lassen, Diane Capen, Dennis Brown, Ramnik J. Xavier, Ning Wang

The evolution of hybrid fitness during speciation

Andrius J. Dagilis, Mark Kirkpatrick, Daniel I. Bolnick

An integrative association method for omics data based on a modified Fisher’s method with application to childhood asthma

Qi Yan, Nianjun Liu, Erick Forno, Glorisa Canino, Juan C. Celedón, Wei Chen

Genome-wide association analysis identifies a natural variation in basic helix-loop-helix transcription factor regulating ascorbate biosynthesis via D-mannose/L-galactose pathway in tomato

Jie Ye, Wangfang Li, Guo Ai, Changxing Li, Genzhong Liu, Weifang Chen, Bing Wang, Wenqian Wang, Yongen Lu, Junhong Zhang, Hanxia Li, Bo Ouyang, Hongyan Zhang, Zhangjun Fei, James J. Giovannoni, Zhibiao Ye, Yuyang Zhang

Estimating variance components in population scale family trees

Tal Shor, Iris Kalka, Dan Geiger, Yaniv Erlich, Omer Weissbrod

Electrical synapses between mushroom body neurons are critical for consolidated memory retrieval in Drosophila

Wei-Huan Shyu, Wang-Pao Lee, Meng-Hsuan Chiang, Ching-Ching Chang, Tsai-Feng Fu, Hsueh-Cheng Chiang, Tony Wu, Chia-Lin Wu

Regulation of bacterial surface attachment by a network of sensory transduction proteins

Leila M. Reyes Ruiz, Aretha Fiebig, Sean Crosson

Two modes of transvection at the eyes absent gene of Drosophila demonstrate plasticity in transcriptional regulatory interactions in cis and in trans

Katherine Tian, Rachel E. Henderson, Reyna Parker, Alexia Brown, Justine E. Johnson, Jack R. Bateman

Towards the new normal: Transcriptomic convergence and genomic legacy of the two subgenomes of an allopolyploid weed (Capsella bursa-pastoris)

Dmytro Kryvokhyzha, Pascal Milesi, Tianlin Duan, Marion Orsucci, Stephen I. Wright, Sylvain Glémin, Martin Lascoux

Sir2 suppresses transcription-mediated displacement of Mcm2-7 replicative helicases at the ribosomal DNA repeats

Eric J. Foss, Tonibelle Gatbonton-Schwager, Adam H. Thiesen, Erin Taylor, Rafael Soriano, Uyen Lao, David M. MacAlpine, Antonio Bedalov

Developmental fidelity is imposed by genetically separable RalGEF activities that mediate opposing signals

Hanna Shin, Christian Braendle, Kimberly B. Monahan, Rebecca E. W. Kaplan, Tanya P. Zand, Francisca Sefakor Mote, Eldon C. Peters, David J. Reiner

A long noncoding RNA distributed in both nucleus and cytoplasm operates in the PYCARD-regulated apoptosis by coordinating the epigenetic and translational regulation

Hui Miao, Linlin Wang, Haomiao Zhan, Jiangshan Dai, Yanbo Chang, Fan Wu, Tao Liu, Zhongyu Liu, Chunfang Gao, Ling Li, Xu Song

Whole genome sequencing of experimental hybrids supports meiosis-like sexual recombination in Leishmania

Ehud Inbar, Jahangheer Shaik, Stefano A. Iantorno, Audrey Romano, Chukwunonso O. Nzelu, Katherine Owens, Mandy J. Sanders, Deborah Dobson, James A. Cotton, Michael E. Grigg, Stephen M. Beverley, David Sacks

Selection of Candida albicans trisomy during oropharyngeal infection results in a commensal-like phenotype

Anja Forche, Norma V. Solis, Marc Swidergall, Robert Thomas, Alison Guyer, Annette Beach, Gareth A. Cromie, Giang T. Le, Emily Lowell, Norman Pavelka, Judith Berman, Aimeé M. Dudley, Anna Selmecki, Scott G. Filler

MicroRNA26 attenuates vascular smooth muscle maturation via endothelial BMP signalling

Charlene Watterston, Lei Zeng, Abidemi Onabadejo, Sarah J. Childs

HDAC1-mediated repression of the retinoic acid-responsive gene ripply3 promotes second heart field development

Yuntao Charlie Song, Tracy E. Dohn, Ariel B. Rydeen, Alex V. Nechiporuk, Joshua S. Waxman

An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome

Thomas W. Marchant, Elisabeth Dietschi, Ulrich Rytz, Peter Schawalder, Vidhya Jagannathan, Sheida Hadji Rasouliha, Corinne Gurtner, Andreas S. Waldvogel, Ronan S. Harrington, Michaela Drögemüller, Jeffrey Kidd, Elaine A. Ostrander, Amanda Warr, Mick Watson, David Argyle, Gert Ter Haar, Dylan N. Clements, Tosso Leeb, Jeffrey J. Schoenebeck

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

Peng Wang, Jianwen Deng, Jie Dong, Jianghong Liu, Eileen H. Bigio, Marsel Mesulam, Tao Wang, Lei Sun, Li Wang, Alan Yueh-Luen Lee, Warren A. McGee, Xiaoping Chen, Kazuo Fushimi, Li Zhu, Jane Y. Wu

Genetics of cocaine and methamphetamine consumption and preference in Drosophila melanogaster

Chad A. Highfill, Brandon M. Baker, Stephenie D. Stevens, Robert R. H. Anholt, Trudy F. C. Mackay

Transcriptomic basis and evolution of the ant nurse-larval social interactome

Michael R. Warner, Alexander S. Mikheyev, Timothy A. Linksvayer

The E3 ubiquitin ligase Sina regulates the assembly and disassembly of the synaptonemal complex in Drosophila females

Stacie E. Hughes, Elizabeth Hemenway, Fengli Guo, Kexi Yi, Zulin Yu, R. Scott Hawley

CBX2 is required to stabilize the testis pathway by repressing Wnt signaling

S. Alexandra Garcia-Moreno, Yi-Tzu Lin, Christopher R. Futtner, Isabella M. Salamone, Blanche Capel, Danielle M. Maatouk

The dPix-Git complex is essential to coordinate epithelial morphogenesis and regulate myosin during Drosophila egg chamber development

Lucas G. Dent, Samuel A. Manning, Benjamin Kroeger, Audrey M. Williams, Abdul Jabbar Saiful Hilmi, Luke Crea, Shu Kondo, Sally Horne-Badovinac, Kieran F. Harvey

The subunit of RNA N6-methyladenosine methyltransferase OsFIP regulates early degeneration of microspores in rice

Fan Zhang, Yu-Chan Zhang, Jian-You Liao, Yang Yu, Yan-Fei Zhou, Yan-Zhao Feng, Yu-Wei Yang, Meng-Qi Lei, Mei Bai, Hong Wu, Yue-Qin Chen

Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development

Jielin Liu, Henghui Cheng, Menglan Xiang, Lun Zhou, Bingruo Wu, Ivan P. Moskowitz, Ke Zhang, Linglin Xie

Metabolites of lactic acid bacteria present in fermented foods are highly potent agonists of human hydroxycarboxylic acid receptor 3

Anna Peters, Petra Krumbholz, Elisabeth Jäger, Anna Heintz-Buschart, Mehmet Volkan Çakir, Sven Rothemund, Alexander Gaudl, Uta Ceglarek, Torsten Schöneberg, Claudia Stäubert

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An Arabidopsis FANCJ helicase homologue is required for DNA crosslink repair and rDNA repeat stability

Annika Dorn, Laura Feller, Dominique Castri, Sarah Röhrig, Janina Enderle, Natalie J. Herrmann, Astrid Block-Schmidt, Oliver Trapp, Laura Köhler, Holger Puchta

Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer

Sarah K. Deasy, Ryo Uehara, Suman K. Vodnala, Howard H. Yang, Randall A. Dass, Ying Hu, Maxwell P. Lee, Robert J. Crouch, Kent W. Hunter

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

Prashant Sharma, Marie Reichert, Yan Lu, Thomas C. Markello, David R. Adams, Peter J. Steinbach, Brie K. Fuqua, Xenia Parisi, Stephen G. Kaler, Christopher D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan

Drosophila ADCK1 is critical for maintaining mitochondrial structures and functions in the muscle

Woongchang Yoon, Sun-Hong Hwang, Sang-Hee Lee, Jongkyeong Chung

Identification and validation of genetic variants predictive of gait in standardbred horses

Annette M. McCoy, Samantha K. Beeson, Carl-Johan Rubin, Leif Andersson, Paul Caputo, Sigrid Lykkjen, Alison Moore, Richard J. Piercy, James R. Mickelson, Molly E. McCue

Genetic analyses led to the discovery of a super-active mutant of the RNA polymerase I

Tommy Darrière, Michael Pilsl, Marie-Kerguelen Sarthou, Adrien Chauvier, Titouan Genty, Sylvain Audibert, Christophe Dez, Isabelle Léger-Silvestre, Christophe Normand, Anthony K. Henras, Marta Kwapisz, Olga Calvo, Carlos Fernández-Tornero, Herbert Tschochner, Olivier Gadal

MNM and SNM maintain but do not establish achiasmate homolog conjunction during Drosophila male meiosis

Michael Shoujie Sun, Joe Weber, Ariane C. Blattner, Soumya Chaurasia, Christian F. Lehner

Enhancing face validity of mouse models of Alzheimer’s disease with natural genetic variation

Kristen D. Onos, Asli Uyar, Kelly J. Keezer, Harriet M. Jackson, Christoph Preuss, Casey J. Acklin, Rita O’Rourke, Rebecca Buchanan, Travis L. Cossette, Stacey J. Sukoff Rizzo, Ileana Soto, Gregory W. Carter, Gareth R. Howell

A novel rice grain size gene OsSNB was identified by genome-wide association study in natural population

Xiaosong Ma, Fangjun Feng, Yu Zhang, Ibrahim Eid Elesawi, Kai Xu, Tianfei Li, Hanwei Mei, Hongyan Liu, Ningning Gao, Chunli Chen, Lijun Luo, Shunwu Yu

Quorum sensing and stress-activated MAPK signaling repress yeast to hypha transition in the fission yeast Schizosaccharomyces japonicus

Elisa Gómez-Gil, Alejandro Franco, Marisa Madrid, Beatriz Vázquez-Marín, Mariano Gacto, Jesualdo Fernández-Breis, Jero Vicente-Soler, Teresa Soto, José Cansado

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Corrections

Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Brandon L. Pierce, Lin Tong, Samantha Dean, Maria Argos, Farzana Jasmine, Muhammad Rakibuz-Zaman, Golam Sarwar, Md. Tariqul Islam, Hasan Shahriar, Tariqul Islam, Mahfuzar Rahman, Md. Yunus, Vincent J. Lynch, Devin Oglesbee, Joseph H. Graziano, Muhammad G. Kibriya, Mary V. Gamble, Habibul Ahsan

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Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Manuel A. Rivas, Brandon E. Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M. Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P. Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J. Karczewski, Jonathan Bloom, Eric V. Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W. Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R. Brant, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Rinse K. Weersma, Andre Franke, Luke Jostins, Carl A. Anderson, Jeffrey C. Barrett, Daniel G. MacArthur, Chaim Jalas, Harry Sokol, Ramnik J. Xavier, Ann Pulver, Judy H. Cho, Dermot P. B. McGovern, Mark J. Daly

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Topic Page

De novo gene birth

Stephen Branden Van Oss, Anne-Ruxandra Carvunis