Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

The American Journal of Human Genetics - Tập 88 - Trang 273-282 - 2011
Nadine Norton1, Duanxiang Li1, Mark J. Rieder2, Jill D. Siegfried1, Evadnie Rampersaud3, Stephan Züchner3, Steve Mangos4, Jorge Gonzalez-Quintana1, Libin Wang1, Sean McGee2, Jochen Reiser4, Eden Martin3, Deborah A. Nickerson2, Ray E. Hershberger1
1Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136-1015, USA
2Department of Genome Sciences, University of Washington, Seattle, WA 98195-5065, USA
3Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136-1015, USA
4Division of Nephrology, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136-1015, USA

Tài liệu tham khảo

Hershberger, 2009, Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy, Circ Heart Fail, 2, 253, 10.1161/CIRCHEARTFAILURE.108.817346 Hershberger, 2010, Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals, Genet. Med., 12, 655, 10.1097/GIM.0b013e3181f2481f Li, 2006, Mutations of presenilin genes in dilated cardiomyopathy and heart failure, Am. J. Hum. Genet., 79, 1030, 10.1086/509900 Parks, 2008, Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy, Am. Heart J., 156, 161, 10.1016/j.ahj.2008.01.026 Hershberger, 2008, Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy, Clin Transl Sci, 1, 21, 10.1111/j.1752-8062.2008.00017.x Hershberger, 2010, Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy, Circ Cardiovasc Genet, 3, 155, 10.1161/CIRCGENETICS.109.912345 Li, 2010, Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy, Clin Transl Sci., 3, 90, 10.1111/j.1752-8062.2010.00198.x Kushner, 2006, Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy, J. Card. Fail., 12, 422, 10.1016/j.cardfail.2006.03.009 Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 Ng, 2009, Targeted capture and massively parallel sequencing of 12 human exomes, Nature, 461, 272, 10.1038/nature08250 Hedges, 2009, Exome sequencing of a multigenerational human pedigree, PLoS ONE, 4, e8232, 10.1371/journal.pone.0008232 Cahan, 2008, wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data, Nucleic Acids Res., 36, e41, 10.1093/nar/gkn110 Iafrate, 2004, Detection of large-scale variation in the human genome, Nat. Genet., 36, 949, 10.1038/ng1416 Mortazavi, 2008, Mapping and quantifying mammalian transcriptomes by RNA-Seq, Nat. Methods, 5, 621, 10.1038/nmeth.1226 Westerfield, 1995 Mangos, 2010, The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation, Dis Model Mech, 3, 354, 10.1242/dmm.003194 Shin, 2010, High-resolution cardiovascular function confirms functional orthology of myocardial contractility pathways in zebrafish, Physiol. Genomics, 42, 300, 10.1152/physiolgenomics.00206.2009 Homma, 2006, BAG3 deficiency results in fulminant myopathy and early lethality, Am. J. Pathol., 169, 761, 10.2353/ajpath.2006.060250 Selcen, 2009, Mutation in BAG3 causes severe dominant childhood muscular dystrophy, Ann. Neurol., 65, 83, 10.1002/ana.21553 Odgerel, 2010, Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation, Neuromuscul. Disord., 20, 438, 10.1016/j.nmd.2010.05.004 Worman, 2004, How do mutations in lamins A and C cause disease?, J. Clin. Invest., 113, 349, 10.1172/JCI20832 McCollum, 2010, Caught in the middle: the role of Bag3 in disease, Biochem. J., 425, e1, 10.1042/BJ20091739 Fuchs, 2010, Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction, Biochem. J., 425, 245, 10.1042/BJ20090907 Maloyan, 2010, Manipulation of death pathways in desmin-related cardiomyopathy, Circ. Res., 106, 1524, 10.1161/CIRCRESAHA.109.212639 Inagaki, 2006, Alpha B-crystallin mutation in dilated cardiomyopathy, Biochem. Biophys. Res. Commun., 342, 379, 10.1016/j.bbrc.2006.01.154 Hishiya, 2010, BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress, Circ. Res., 107, 1220, 10.1161/CIRCRESAHA.110.225649 Gamerdinger, 2009, Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3, EMBO J., 28, 889, 10.1038/emboj.2009.29