Molecular characterization and expression patterns of emerin (EMD) gene in skeletal muscle between Meishan and Large White pigs
GENE
Authors: Wang, Yan; Xiao, Xia; Wang, Linjie
Abstract
The emerin protein is a nuclear membrane protein and has important functions in muscle development, regeneration, and cell signal transduction. However, knowledge regarding emerin in the domestic animal is limited. In this study, we cloned and characterized the pig emerin (EMD) gene. Semi-quantitative RT-PCR analysis revealed that the EMD gene was expressed at the highest level in the heart and fat at 120 d. However, the fetal skeletal muscles displayed a greater abundance of EMD mRNA than that in skeletal muscles at postnatal development stages. In addition, the expression level of EMD at 60 day was significantly higher (p < 0.05) in Meishan than Large White pigs. Pig EMD protein displayed the sarcolemma and perinuclear distribution in skeletal muscle sections, and there was no distribution change of EMD in skeletal muscle sections between Large White and Meishan pigs. These studies provide useful information for further research on the functions of pig EMD gene in skeletal muscle. (C) 2015 Elsevier B.V. All rights reserved.
A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
PLOS GENETICS
Authors: Bradfield, Jonathan P.; Qu, Hui-Qi; Wang, Kai; Zhang, Haitao; Sleiman, Patrick M.; Kim, Cecilia E.; Mentch, Frank D.; Qiu, Haijun; Glessner, Joseph T.; Thomas, Kelly A.; Frackelton, Edward C.; Chiavacci, Rosetta M.; Imielinski, Marcin; Monos, Dimitri S.; Pandey, Rahul; Bakay, Marina; Grant, Struan F. A.; Polychronakos, Constantin; Hakonarson, Hakon
Abstract
Diabetes impacts approximately 200 million people worldwide, of whom approximately 10% are affected by type 1 diabetes (T1D). The application of genome-wide association studies (GWAS) has robustly revealed dozens of genetic contributors to the pathogenesis of T1D, with the most recent meta-analysis identifying in excess of 40 loci. To identify additional genetic loci for T1D susceptibility, we examined associations in the largest meta-analysis to date between the disease and similar to 2.54 million SNPs in a combined cohort of 9,934 cases and 16,956 controls. Targeted follow-up of 53 SNPs in 1,120 affected trios uncovered three new loci associated with T1D that reached genome-wide significance. The most significantly associated SNP (rs539514, P = 5.66x10(-11)) resides in an intronic region of the LMO7 (LIM domain only 7) gene on 13q22. The second most significantly associated SNP (rs478222, P = 3.50x10(-9)) resides in an intronic region of the EFR3B (protein EFR3 homolog B) gene on 2p23; however, the region of linkage disequilibrium is approximately 800 kb and harbors additional multiple genes, including NCOA1, C2orf79, CENPO, ADCY3, DNAJC27, POMC, and DNMT3A. The third most significantly associated SNP (rs924043, P = 8.06x10(-9)) lies in an intergenic region on 6q27, where the region of association is approximately 900 kb and harbors multiple genes including WDR27, C6orf120, PHF10, TCTE3, C6orf208, LOC154449, DLL1, FAM120B, PSMB1, TBP, and PCD2. These latest associated regions add to the growing repertoire of gene networks predisposing to T1D.