De novo mutations in histone-modifying genes in congenital heart disease

Nature

Volumn 498, Issue 7453, 2013, Pages 220-223

  Zaidi, Samir ^a,b   Choi, Murim ^a,b   Wakimoto, Hiroko ^c   Ma, Lijiang ^d   Jiang, Jianming ^c,e   Overton, John D ^a   Romano Adesman, Angela ^f   Bjornson, Robert D ^a,g   Breitbart, Roger E ^h   Brown, Kerry K ^c   Carriero, Nicholas J ^a,f   Cheung, Yee Him ⁱ   Deanfield, John ^j   Depalma, Steve ^c   Fakhro, Khalid A ^a,b   Glessner, Joseph ^k   Hakonarson, Hakon ^k,l   Italia, Michael J ^k   Kaltman, Jonathan R ^m   Kaski, Juan ^j   Kim, Richard ⁿ   Kline, Jennie K ⁱ   Lee, Teresa ^d   Leipzig, Jeremy ^k   Lopez, Alexander ^a   Mane, Shrikant M ^a   Mitchell, Laura E ^o   Newburger, Jane W ^h   Parfenov, Michael ^c   Pe'Er, Itsik ^p   Porter, George ^q   Roberts, Amy E ^h   Sachidanandam, Ravi ^r   Sanders, Stephan J ^a,s   Seiden, Howard S ^r   State, Mathew W ^a,s   Subramanian, Sailakshmi ^r   Tikhonova, Irina R ^a   Wang, Wei ^k,t   Warburton, Dorothy ^d   White, Peter S ^k,l   Williams, Ismee A ^d   Zhao, Hongyu ^a,b   Seidman, Jonathan G ^c   Brueckner, Martina ^a   Chung, Wendy K ^d   Gelb, Bruce D ^r   Goldmuntz, Elizabeth ^l   Seidman, Christine E ^c,e   Lifton, Richard P ^a,b   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e HARVARD UNIVERSITY   (United States)

^f Northwell Health   (United States)

^g Yale University   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ Columbia University ^*  (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^l UNIVERSITY OF PENNSYLVANIA   (United States)

^m NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

ⁿ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^o UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^p School of Medicine and Dentistry ^*  (United States)

^q UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^r MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^s YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t University Heights   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE;

CARDIOVASCULAR DISEASE; DEFECT; FITNESS; GENE EXPRESSION; METHYLATION; MUTATION;

ARTICLE; CHROMATIN; CONGENITAL HEART DISEASE; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; HISTONE METHYLATION; HISTONE MODIFICATION; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; CASE-CONTROL STUDIES; CHILD; CHROMATIN; DNA MUTATIONAL ANALYSIS; ENHANCER ELEMENTS, GENETIC; EXOME; FEMALE; GENES, DEVELOPMENTAL; HEART DISEASES; HISTONES; HUMANS; LYSINE; MALE; METHYLATION; MUTATION; ODDS RATIO; PROMOTER REGIONS, GENETIC;

EID: 84879001958     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature12141     Document Type: Article

References (27)

1. Reller, M. D., Strickland, M. J., Riehle-Colarusso, T., Mahle, W. T. & Correa, A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J. Pediatr. 153, 807-813 (2008).
2. Shilatifard, A. The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Annu. Rev. Biochem. 81, 65-95 (2012).
3. Pedersen, M. T. & Helin, K. Histone demethylases in development and disease. Trends Cell Biol. 20, 662-671 (2010).
4. Fuchs, G. et al. RNF20 andUSP44 regulate stemcell differentiation bymodulating H2B monoubiquitylation. Mol. Cell 46, 662-673 (2012).
5. Dahle, ∅., Kumar, A. & Kuehn, M. R. Nodal signaling recruits the histone demethylase Jmjd3 to counteract polycomb-mediated repression at target genes. Sci. Signal. 3, ra48 (2010).
6. Bernstein, B. E. et al. A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 125, 315-326 (2006).
7. PediatricCardiacGenomicsConsortium.TheCongenitalHeartDiseaseNetworkStudy (CHD GENES): rationale, design and early results. Circ. Res. 112, 698-706 (2013).
8. Boyden, L. M. et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 482, 98-102 (2012).
9. Sanders, S. J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
10. Scally, A. & Durbin, R. Revising the human mutation rate: implications for understanding human evolution. Nature Rev. Genet. 13, 745-753 (2012).
11. Lederer, D. et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am. J. Hum. Genet. 90, 119-124 (2012).
12. Vissers, L. E. et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genet. 36, 955-957 (2004). (Pubitemid 39167490)
13. Gendron, R. L., Adams, L. C. & Paradis, H. Tubedown-1, a novel acetyltransferase associated with blood vessel development. Dev. Dyn. 218, 300-315 (2000). (Pubitemid 30349641)
14. Greenway, S. C. et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature Genet. 41, 931-935 (2009).
15. Wamstad, J. A. et al. Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage. Cell 151, 206-220 (2012).
16. Paige, S. L. et al. A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development. Cell 151, 221-232 (2012).
17. Ceol, C. J. et al. The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset. Nature 471, 513-517 (2011).
18. Sausen, M. et al. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nature Genet. 45, 12-17 (2013).
19. O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
20. Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012).
21. Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
22. O'Roak, B. J. et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012).
23. Kong, A. et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471-475 (2012).
24. Vorstman, J. A., Breetvelt, E. J., Thode, K. I., Chow, E. W. & Bassett, A. S. Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr. Res. 143, 55-59 (2013).
25. Mefford, H. C. et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359, 1685-1699 (2008).
26. Ghebranious,N.,Giampietro,P.F.,Wesbrook,F.P.&Rezkalla,S.H. Anovelmicrodeletion at16p11.2harbors candidategenes for aortic valvedevelopment, seizuredisorder,and mild mental retardation. Am. J.Med. Genet. 143A, 1462-1471 (2007). (Pubitemid 47051025)
27. Soemedi, R. et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am. J. Hum. Genet. 91, 489-501 (2012).