SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet     Natalie D Shaw , Harrison Brand , Zachary A Kupchinsky , Hemant Bengani , Lacey Plummer , Takako I Jones , Serkan Erdin , Kathleen A Williamson , Joe Rainger , Alexei Stortchevoi , Kaitlin Samocha , Benjamin B Currall , Donncha S Dunican , Ryan L Collins , Jason R Willer , Angela Lek , Monkol Lek , Malik Nassan , Shahrin Pereira , Tammy Kammin , Diane Lucente , Alexandra Silva , Catarina M Seabra , Colby Chiang , Yu An , Morad Ansari , Jacqueline K Rainger , Shelagh Joss , Jill Clayton Smith , Margaret F Lippincott , Sylvia S Singh , Nirav Patel , Jenny W Jing , Jennifer R Law , Nalton Ferraro , Alain Verloes , Anita Rauch , Katharina Steindl , Markus Zweier , Ianina Scheer , Daisuke Sato , Nobuhiko Okamoto , Christina Jacobsen , Jeanie Tryggestad , Steven Chernausek , Lisa A Schimmenti , Benjamin Brasseur , Claudia Cesaretti , Jose E García-Ortiz , Tatiana Pineda Buitrago , Orlando Perez Silva , Jodi D Hoffman , Wolfgang Mühlbauer , Klaus W Ruprecht , Bart L Loeys , Masato Shino , Angela M Kaindl , Chie-Hee Cho , Cynthia C Morton , Richard R Meehan , Veronica van Heyningen , Eric C Liao , Ravikumar Balasubramanian , Janet E Hall , Stephanie B Seminara , Daniel Macarthur , Steven A Moore , Koh-Ichiro Yoshiura , James F Gusella , Joseph A Marsh , John M Graham , Angela E Lin , Nicholas Katsanis , Peter L Jones , William F Crowley , Erica E Davis , David R FitzPatrick , Michael E Talkowski

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Nat Genet     Christopher T Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen , Nadine Rosin , Koh-Ichiro Yoshiura , Myriam Oufadem , Tamara J Beck , Ruth McGowan , Alex C Magee , Janine Altmüller , Camille Dion , Holger Thiele , Alexandra D Gurzau , Peter Nürnberg , Dieter Meschede , Wolfgang Mühlbauer , Nobuhiko Okamoto , Vinod Varghese , Rachel Irving , Sabine Sigaudy , Denise Williams , S Faisal Ahmed , Carine Bonnard , Mung Kei Kong , Ilham Ratbi , Nawfal Fejjal , Meriem Fikri , Siham Chafai Elalaoui , Hallvard Reigstad , Christine Bole-Feysot , Patrick Nitschké , Nicola Ragge , Nicolas Lévy , Gökhan Tunçbilek , Audrey S M Teo , Michael L Cunningham , Abdelaziz Sefiani , Hülya Kayserili , James M Murphy , Chalermpong Chatdokmaiprai , Axel M Hillmer , Duangrurdee Wattanasirichaigoon , Stanislas Lyonnet , Frédérique Magdinier , Asif Javed , Marnie E Blewitt , Jeanne Amiel , Bernd Wollnik , Bruno Reversade

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

Biochem. J.     Kelan Chen , Renwick C J Dobson , Isabelle S Lucet , Samuel N Young , F Grant Pearce , Marnie E Blewitt , James M Murphy

Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.

Mol. Cell. Biol.     Nicholas J Brideau , Heather Coker , Anne-Valerie Gendrel , C Alistair Siebert , Karel Bezstarosti , Jeroen Demmers , Raymond A Poot , Tatyana B Nesterova , Neil Brockdorff

Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.

J. Biol. Chem.     Mengfan Tang , Yujing Li , Xiya Zhang , Tingting Deng , Zhifen Zhou , Wenbin Ma , Zhou Songyang

SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks.

J. Cell. Sci.     Heather Coker , Neil Brockdorff

Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes.

Mol. Cell. Biol.     Anne-Valerie Gendrel , Y Amy Tang , Masako Suzuki , Jonathan Godwin , Tatyana B Nesterova , John M Greally , Edith Heard , Neil Brockdorff

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.

Nat. Struct. Mol. Biol.     Ryu-Suke Nozawa , Koji Nagao , Ken-Taro Igami , Sachiko Shibata , Natsuko Shirai , Naohito Nozaki , Takashi Sado , Hiroshi Kimura , Chikashi Obuse

A quantitative telomeric chromatin isolation protocol identifies different telomeric states.

Nat Commun     Larissa Grolimund , Eric Aeby , Romain Hamelin , Florence Armand , Diego Chiappe , Marc Moniatte , Joachim Lingner

Analysis of oxygen/glucose-deprivation-induced changes in SUMO3 conjugation using SILAC-based quantitative proteomics.

J. Proteome Res.     Wei Yang , J Will Thompson , Zhengfeng Wang , Liangli Wang , Huaxin Sheng , Matthew W Foster , M Arthur Moseley , Wulf Paschen