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Ryusuke Nakajima, Hideyuki Okano, Toshiaki Noce
Jmjd1C is one of the Jmjd1 family genes that encode putative demethylases against histone H3K9 and non-histone proteins and has been proven to play an indispensable role in mouse spermatogenesis. Here, we analyzed a newly-bred transgenic mouse strain carrying a Jmjd1C loss-of-function allele in which a β-geo cassette was integrated into the intron of the Jmjd1C locus. Jmjd1C gene-trap homozygous testes exhibited malformations in postmeiotic processes and a deficiency in the long-term maintenance of undifferentiated spermatogonia...
2016: PloS One
Salman M Tajuddin, Ursula M Schick, John D Eicher, Nathalie Chami, Ayush Giri, Jennifer A Brody, W David Hill, Tim Kacprowski, Jin Li, Leo-Pekka Lyytikäinen, Ani Manichaikul, Evelin Mihailov, Michelle L O'Donoghue, Nathan Pankratz, Raha Pazoki, Linda M Polfus, Albert Vernon Smith, Claudia Schurmann, Caterina Vacchi-Suzzi, Dawn M Waterworth, Evangelos Evangelou, Lisa R Yanek, Amber Burt, Ming-Huei Chen, Frank J A van Rooij, James S Floyd, Andreas Greinacher, Tamara B Harris, Heather M Highland, Leslie A Lange, Yongmei Liu, Reedik Mägi, Mike A Nalls, Rasika A Mathias, Deborah A Nickerson, Kjell Nikus, John M Starr, Jean-Claude Tardif, Ioanna Tzoulaki, Digna R Velez Edwards, Lars Wallentin, Traci M Bartz, Lewis C Becker, Joshua C Denny, Laura M Raffield, John D Rioux, Nele Friedrich, Myriam Fornage, He Gao, Joel N Hirschhorn, David C M Liewald, Stephen S Rich, Andre Uitterlinden, Lisa Bastarache, Diane M Becker, Eric Boerwinkle, Simon de Denus, Erwin P Bottinger, Caroline Hayward, Albert Hofman, Georg Homuth, Ethan Lange, Lenore J Launer, Terho Lehtimäki, Yingchang Lu, Andres Metspalu, Chris J O'Donnell, Rakale C Quarells, Melissa Richard, Eric S Torstenson, Kent D Taylor, Anne-Claire Vergnaud, Alan B Zonderman, David R Crosslin, Ian J Deary, Marcus Dörr, Paul Elliott, Michele K Evans, Vilmundur Gudnason, Mika Kähönen, Bruce M Psaty, Jerome I Rotter, Andrew J Slater, Abbas Dehghan, Harvey D White, Santhi K Ganesh, Ruth J F Loos, Tõnu Esko, Nauder Faraday, James G Wilson, Mary Cushman, Andrew D Johnson, Todd L Edwards, Neil A Zakai, Guillaume Lettre, Alex P Reiner, Paul L Auer
White blood cells play diverse roles in innate and adaptive immunity. Genetic association analyses of phenotypic variation in circulating white blood cell (WBC) counts from large samples of otherwise healthy individuals can provide insights into genes and biologic pathways involved in production, differentiation, or clearance of particular WBC lineages (myeloid, lymphoid) and also potentially inform the genetic basis of autoimmune, allergic, and blood diseases. We performed an exome array-based meta-analysis of total WBC and subtype counts (neutrophils, monocytes, lymphocytes, basophils, and eosinophils) in a multi-ancestry discovery and replication sample of ∼157,622 individuals from 25 studies...
July 7, 2016: American Journal of Human Genetics
J Wang, T Le, R Wei, Y Jiao
MicroRNAs have been shown to be closely related to many neurodegenerative disorders. The present study focuses on the role of hsa-miR-590-3p and its function in Parkinson's disease (PD). Our study showed a remarkable down-regulation of miR-590-3p expression in the 1-methyl-4 phenylpyridinium (MPP+)-treated MES23.5 and SH-SY5Y cells. Furthermore, JMJD1C was identified as a target gene of miR-590-3p in humans via the luciferase reporter assay. Our study also demonstrated that up-regulation of miR-590-3p and knockdown of JMJD1C increased the expression of peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α) and the downstream targets of PGC-1α, including nuclear respiratory factor 1 (NRF-1) and mitochondrial transcription factor A (TFAM), which are the key genes regulating mitochondrial function...
March 20, 2016: Cellular and Molecular Biology
Daniela Kurfurstova, Jirina Bartkova, Radek Vrtel, Alena Mickova, Alena Burdova, Dusana Majera, Martin Mistrik, Milan Kral, Frederic R Santer, Jan Bouchal, Jiri Bartek
The DNA damage checkpoints provide an anti-cancer barrier in diverse tumour types, however this concept has remained unexplored in prostate cancer (CaP). Furthermore, targeting DNA repair defects by PARP1 inhibitors (PARPi) as a cancer treatment strategy is emerging yet requires suitable predictive biomarkers. To address these issues, we performed immunohistochemical analysis of multiple markers of DNA damage signalling, oxidative stress, DNA repair and cell cycle control pathways during progression of human prostate disease from benign hyperplasia, through intraepithelial neoplasia to CaP, complemented by genetic analyses of TMPRSS2-ERG rearrangement and NQO1, an anti-oxidant factor and p53 protector...
June 2016: Molecular Oncology
Seung Hoan Choi, Daniela Ruggiero, Rossella Sorice, Ci Song, Teresa Nutile, Albert Vernon Smith, Maria Pina Concas, Michela Traglia, Caterina Barbieri, Ndeye Coumba Ndiaye, Maria G Stathopoulou, Vasiliki Lagou, Giovanni Battista Maestrale, Cinzia Sala, Stephanie Debette, Peter Kovacs, Lars Lind, John Lamont, Peter Fitzgerald, Anke Tönjes, Vilmundur Gudnason, Daniela Toniolo, Mario Pirastu, Celine Bellenguez, Ramachandran S Vasan, Erik Ingelsson, Anne-Louise Leutenegger, Andrew D Johnson, Anita L DeStefano, Sophie Visvikis-Siest, Sudha Seshadri, Marina Ciullo
Vascular endothelial growth factor (VEGF) is an angiogenic and neurotrophic factor, secreted by endothelial cells, known to impact various physiological and disease processes from cancer to cardiovascular disease and to be pharmacologically modifiable. We sought to identify novel loci associated with circulating VEGF levels through a genome-wide association meta-analysis combining data from European-ancestry individuals and using a dense variant map from 1000 genomes imputation panel. Six discovery cohorts including 13,312 samples were analyzed, followed by in-silico and de-novo replication studies including an additional 2,800 individuals...
February 2016: PLoS Genetics
Nan Zhu, Mo Chen, Rowena Eng, Joshua DeJong, Amit U Sinha, Noushin F Rahnamay, Richard Koche, Fatima Al-Shahrour, Janna C Minehart, Chun-Wei Chen, Aniruddha J Deshpande, Haiming Xu, S Haihua Chu, Benjamin L Ebert, Robert G Roeder, Scott A Armstrong
Self-renewal is a hallmark of both hematopoietic stem cells (HSCs) and leukemia stem cells (LSCs); therefore, the identification of mechanisms that are required for LSC, but not HSC, function could provide therapeutic opportunities that are more effective and less toxic than current treatments. Here, we employed an in vivo shRNA screen and identified jumonji domain-containing protein JMJD1C as an important driver of MLL-AF9 leukemia. Using a conditional mouse model, we showed that loss of JMJD1C substantially decreased LSC frequency and caused differentiation of MLL-AF9- and homeobox A9-driven (HOXA9-driven) leukemias...
March 1, 2016: Journal of Clinical Investigation
C H Li, Y Gao, S Wang, F F Xu, L S Dai, H Jiang, X F Yu, C Z Chen, B Yuan, J B Zhang
Cell reprogramming mediated by histone methylation and demethylation is crucial for the activation of the embryonic genome in early embryonic development. In this study, we employed quantitative real-time polymerase chain reaction (qRT-PCR) to detect mRNA levels and expression patterns of all known histone demethylases in early germinal vesicle stage and in vitro-matured metaphase II (MII) oocytes (which are commonly used as donor cells for nuclear transfer). On screening, the Jumonji domain containing 1C (JMJD1C) gene had the highest level of expression and hence was used for subsequent experiments...
2015: Genetics and Molecular Research: GMR
Tingwei Guo, Jonathan H Chung, Tao Wang, Donna M McDonald-McGinn, Wendy R Kates, Wanda Hawuła, Karlene Coleman, Elaine Zackai, Beverly S Emanuel, Bernice E Morrow
We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had severe congenital heart disease (CHD) and 95 control subjects had normal hearts. Three genes including JMJD1C (jumonji domain containing 1C), RREB1 (Ras responsive element binding protein 1), and SEC24C (SEC24 family member C) had rare (MAF < 0.001) predicted deleterious single-nucleotide variations (rdSNVs) in seven case subjects and no control subjects (p = 0...
December 3, 2015: American Journal of Human Genetics
Rajkumar Dorajoo, Ye Sun, Yi Han, Tingjing Ke, Ayala Burger, Xuling Chang, Hui Qi Low, Weihua Guan, Rozenn N Lemaitre, Chiea-Chuen Khor, Jian-Min Yuan, Woon-Puay Koh, Choon Nam Ong, E Shyong Tai, Jianjun Liu, Rob M van Dam, Chew-Kiat Heng, Yechiel Friedlander
Polyunsaturated fatty acids (PUFAs) have a major impact on human health. Recent genome-wide association studies (GWAS) have identified several genetic loci that are associated with plasma levels of n-3 and n-6 PUFAs in primarily subjects of European ancestry. However, the relevance of these findings has not been evaluated extensively in other ethnic groups. The primary aim of this study was to evaluate for genetic loci associated with n-3 and n-6 PUFAs and to validate the role of recently identified index loci using data from a Singaporean Chinese population...
November 2015: Genes & Nutrition
John D Eicher, Luting Xue, Yoav Ben-Shlomo, Andrew D Beswick, Andrew D Johnson
Platelet reactivity, an important factor in hemostasis and chronic disease, has widespread inter-individual variability with a substantial genetic contribution. Previously, our group performed a genome-wide association study of platelet reactivity identifying single nucleotide polymorphisms (SNPs) associated with ADP- and epinephrine- induced aggregation, including SNPs in MRVI1, PIK3CG, JMJD1C, and PEAR1, among others. Here, we assessed the association of these previously identified SNPs with ADP-, thrombin-, and shear- induced platelet aggregation...
February 2016: Journal of Thrombosis and Thrombolysis
Mo Chen, Nan Zhu, Xiaochuan Liu, Benoit Laurent, Zhanyun Tang, Rowena Eng, Yang Shi, Scott A Armstrong, Robert G Roeder
RUNX1-RUNX1T1 (formerly AML1-ETO), a transcription factor generated by the t(8;21) translocation in acute myeloid leukemia (AML), dictates a leukemic program by increasing self-renewal and inhibiting differentiation. Here we demonstrate that the histone demethylase JMJD1C functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program. JMJD1C is directly recruited by RUNX1-RUNX1T1 to its target genes and regulates their expression by maintaining low H3K9 dimethyl (H3K9me2) levels...
October 15, 2015: Genes & Development
Weronica E Ek, Katarina Lagergren, Michael Cook, Anna H Wu, Christian C Abnet, David Levine, Wong-Ho Chow, Leslie Bernstein, Harvey A Risch, Nicholas J Shaheen, Nigel C Bird, Douglas A Corley, Laura J Hardie, Rebecca C Fitzgerald, Marilie D Gammon, Yvonne Romero, Geoffrey Liu, Weimin Ye, Thomas L Vaughan, Stuart MacGregor, David C Whiteman, Lars Westberg, Jesper Lagergren
The strong male predominance in Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) remains inadequately explained, but sex hormones might be involved. We hypothesized that single nucleotide polymorphisms (SNPs) in the androgen pathway influence risk of developing BE and EAC. This genetic-epidemiological analysis included 14 studies from Australia, Europe and North America. Polymorphisms in 16 genes coding for the androgen pathway were analyzed using a gene-based approach: versatile gene-based test association study...
March 1, 2016: International Journal of Cancer. Journal International du Cancer
Mauricio A Sáez, Juana Fernández-Rodríguez, Catia Moutinho, Jose V Sanchez-Mut, Antonio Gomez, Enrique Vidal, Paolo Petazzi, Karolina Szczesna, Paula Lopez-Serra, Mario Lucariello, Patricia Lorden, Raul Delgado-Morales, Olga J de la Caridad, Dori Huertas, Josep L Gelpí, Modesto Orozco, Adriana López-Doriga, Montserrat Milà, Luís A Perez-Jurado, Mercedes Pineda, Judith Armstrong, Conxi Lázaro, Manel Esteller
PURPOSE: Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known to occur in several of these syndromes. Herein, we aimed to identify whether mutations in the candidate histone demethylase JMJD1C (jumonji domain containing 1C) are implicated in these disorders...
April 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Hanan Khoury-Haddad, Prathamesh T Nadar-Ponniah, Samah Awwad, Nabieh Ayoub
KDM4D is a lysine demethylase that removes tri- and di- methylated residues from H3K9 and is involved in transcriptional regulation and carcinogenesis. We recently showed that KDM4D is recruited to DNA damage sites in a PARP1-dependent manner and facilitates double-strand break repair in human cells. Moreover, we demonstrated that KDM4D is an RNA binding protein and mapped its RNA-binding motifs. Interestingly, KDM4D-RNA interaction is essential for its localization on chromatin and subsequently for efficient demethylation of its histone substrate H3K9me3...
2015: Cell Cycle
Arvind Shakya, Catherine Callister, Alon Goren, Nir Yosef, Neha Garg, Vahid Khoddami, David Nix, Aviv Regev, Dean Tantin
The mechanisms whereby the crucial pluripotency transcription factor Oct4 regulates target gene expression are incompletely understood. Using an assay system based on partially differentiated embryonic stem cells, we show that Oct4 opposes the accumulation of local H3K9me2 and subsequent Dnmt3a-mediated DNA methylation. Upon binding DNA, Oct4 recruits the histone lysine demethylase Jmjd1c. Chromatin immunoprecipitation (ChIP) time course experiments identify a stepwise Oct4 mechanism involving Jmjd1c recruitment and H3K9me2 demethylation, transient FACT (facilitates chromatin transactions) complex recruitment, and nucleosome depletion...
March 2015: Molecular and Cellular Biology
Kunzhe Dong, Na Yao, Yabin Pu, Xiaohong He, Qianjun Zhao, Yizhao Luan, Weijun Guan, Shaoqi Rao, Yuehui Ma
High altitude environments are of particular interest in the studies of local adaptation as well as their implications in physiology and clinical medicine in human. Some Chinese pig breeds, such as Tibetan pig (TBP) that is well adapted to the high altitude and Dahe pig (DHP) that dwells at the moderate altitude, provide ideal materials to study local adaptation to altitudes. Yet, it is still short of in-depth analysis and understanding of the genetic adaptation to high altitude in the two pig populations. In this study we conducted a genomic scan for selective sweeps using FST to identify genes showing evidence of local adaptations in TBP and DHP, with Wuzhishan pig (WZSP) as the low-altitude reference...
2014: PloS One
Yongyue Wei, Zhaoxi Wang, Li Su, Feng Chen, Paula Tejera, Ednan K Bajwa, Mark M Wurfel, Xihong Lin, David C Christiani
BACKGROUND: Platelets are believed to be critical in pulmonary-origin ARDS as mediators of endothelial damage through their interactions with fibrinogen and multiple signal transduction pathways. A prior meta-analysis identified five loci for platelet count (PLT): BAD, LRRC16A, CD36, JMJD1C, and SLMO2. This study aims to validate the quantitative trait loci (QTLs) of PLT within BAD, LRRC16A, CD36, JMJD1C, and SLMO2 among critically ill patients and to investigate the associations of these QTLs with ARDS risk that may be mediated through PLT...
March 2015: Chest
Chao Wang, Hongyang Wang, Yu Zhang, Zhonglin Tang, Kui Li, Bang Liu
Pigs from Asia and Europe were independently domesticated from c. 9000 years ago. During this period, strong artificial selection has led to dramatic phenotypic changes in domestic pigs. However, the genetic basis underlying these morphological and behavioural adaptations is relatively unknown, particularly for indigenous Chinese pigs. Here, we performed a genome-wide analysis to screen 196 regions with selective sweep signals in Tongcheng pigs, which are a typical indigenous Chinese breed. Genes located in these regions have been found to be involved in lipid metabolism, melanocyte differentiation, neural development and other biological processes, which coincide with the evolutionary phenotypic changes in this breed...
March 2015: Molecular Ecology Resources
Linghua Wang, Shigeru Yamaguchi, Matthew D Burstein, Keita Terashima, Kyle Chang, Ho-Keung Ng, Hideo Nakamura, Zongxiao He, Harshavardhan Doddapaneni, Lora Lewis, Mark Wang, Tomonari Suzuki, Ryo Nishikawa, Atsushi Natsume, Shunsuke Terasaka, Robert Dauser, William Whitehead, Adesina Adekunle, Jiayi Sun, Yi Qiao, Gábor Marth, Donna M Muzny, Richard A Gibbs, Suzanne M Leal, David A Wheeler, Ching C Lau
Intracranial germ cell tumours (IGCTs) are a group of rare heterogeneous brain tumours that are clinically and histologically similar to the more common gonadal GCTs. IGCTs show great variation in their geographical and gender distribution, histological composition and treatment outcomes. The incidence of IGCTs is historically five- to eightfold greater in Japan and other East Asian countries than in Western countries, with peak incidence near the time of puberty. About half of the tumours are located in the pineal region...
July 10, 2014: Nature
Stephanie M C Smith, Rebecca S Kimyon, Jyoti J Watters
Our understanding of how histone demethylation contributes to the regulation of basal gene expression in the brain is largely unknown in any injury model, and especially in the healthy adult brain. Although Jumonji genes are often regulated transcriptionally, cell-specific gene expression of Jumonji histone demethylases in the brain remains poorly understood. Thus, in the present study we profiled the mRNA levels of 26 Jumonji genes in microglia (CD11b+), neurons (NeuN+) and astrocytes (GFAP+) from the healthy adult rat brain...
2014: ASN Neuro
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