Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Nature Genetics

Volumn 38, Issue 3, 2006, Pages 343-349

  Zhu, Limin ^a,b,c,d   Vranckx, Roger ^b,e   Van Kien, Philippe Khau ^a,f,g   Lalande, Alain ^g,h   Boisset, Nicolas ^h,i   Mathieu, Flavie ^b,c   Wegman, Mark ^j   Glancy, Luke ^j   Gasc, Jean Marie ^b,c   Brunotte, François ^g,h   Bruneval, Patrick ^a,e   Wolf, Jean Eric ^f,g   Michel, Jean Baptiste ^b,e   Jeunemaitre, Xavier ^a,b,c,e  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b INSERM   (France)

^c l'alimentation et l'Environnement   (France)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f UNIVERSITÉ DE BOURGOGNE   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

^h CNRS   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

^j LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONTRACTILE PROTEIN; MUTANT PROTEIN; MYOSIN; MYOSIN HEAVY CHAIN 11; UNCLASSIFIED DRUG;

ADULT; AORTA DISSECTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOASSAY; IMMUNOPRECIPITATION; MALE; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; SMOOTH MUSCLE; SMOOTH MUSCLE FIBER; THORACIC AORTA ANEURYSM; WILD TYPE;

ADULT; AMINO ACID SEQUENCE; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; DUCTUS ARTERIOSUS, PATENT; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 33644627494     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1721     Document Type: Article

References (30)

1. Glancy, D.L., Wegmann, M. & Dhurandhar, R.W. Aortic dissection and patent ductus arteriosus in three generations. Am. J. Cardiol. 87, 813-815 (2001).
2. Khau Van Kien, P. et al. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur. J. Hum. Genet. 12, 173-180 (2004).
3. Khau Van Kien, P. et al. Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. Circulation 112, 200-206 (2005).
4. Coady, M.A. et al. Familial patterns of thoracic aortic aneurysms. Arch. Surg. 134, 361-367 (1999).
5. Vaughan, C.J. et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103, 2469-2475 (2001).
6. Guo, D. et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103, 2461-2468 (2001).
7. Hasham, S.N. et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107, 3184-3190 (2003).
8. Pannu, H. et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112, 513-520 (2005).
9. Hoffman, J.I. & Kaplan, S. The incidence of congenital heart disease. J. Am. Coll. Cardiol. 39, 1890-1900 (2002).
10. Satoda, M. et al. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat. Genet. 25, 42-46 (2000).
11. Mani, A. et al. Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proc. Natl. Acad. Sci. USA 99, 15054-15059 (2002).
12. Babu, G.J., Warshaw, D.M. & Periasamy, M. Smooth muscle myosin heavy chain isoforms and their role in muscle physiology. Microsc. Res. Tech. 50, 532-540 (2000).
13. Straussman, R., Squire, J.M., Ben-Ya'acov, A. & Ravid, S. Skip residues and charge interactions in myosin II coiled-coils: implications for molecular packing. J. Mol. Biol. 353, 613-628 (2005).
14. Franke, J.D., Dong, F., Rickoll, W.L., Kelley, M.J. & Kiehart, D.P. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood 105, 161-169 (2005).
15. Meredith, C. et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am. J. Hum. Genet. 75, 703-708 (2004).
16. Laurent, S., Boutouyrie, P. & Lacolley, P. Structural and genetic bases of arterial stiffness. Hypertension 45, 1050-1055 (2005).
17. Slomp, J. et al. Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus. Arterioscler. Thromb. Vasc. Biol. 17, 1003-1009 (1997).
18. Morano, I. et al. Smooth-muscle contraction without smooth-muscle myosin. Nat. Cell Biol. 2, 371-375 (2000).
19. Hornblad, P.Y. Studies on closure of the ductus arteriosus. 3. Species differences in closure rate and morphology. Cardiology 51, 262-282 (1967).
20. Meloni, I. et al. Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and mYH11. Hum. Mutat. 18, 85 (2001).
21. Ching, Y.H. et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat. Genet. 37, 423-428 (2005).
22. Geisterfer-Lowrance, A.A. et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62, 999-1006 (1990).
23. Boileau, C., Jondeau, G., Mizuguchi, T. & Matsumoto, N. Molecular genetics of Marfan syndrome. Curr. Opin. Cardiol. 20, 194-200 (2005).
24. Nachtigal, M., Nagpal, M.L., Greenspan, P., Nachtigal, S.A. & Legrand, A. Characterization of a continuous smooth muscle cell line derived from rabbit aorta. In Vitro Cell. Dev. Biol. 25, 892-898 (1989).
25. Bradford, M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254 (1976).
26. Laemmli, U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685 (1970).
27. Quevillon-Cheruel, S., Foucault, G., Desmadril, M., Lompre, A.M. & Bechet, J.J. Role of the C-terminal extremities of the smooth muscle myosin heavy chains: implication for assembly properties. FEBS Lett. 454, 303-306 (1999).
28. Lupas, A., Van Dyke, M. & Stock, J. Predicting coiled coils from protein sequences. Science 252, 1162-1164 (1991).
29. Lalande, A. et al. Automatic determination of aortic compliance with cine-magnetic resonance imaging: an application of fuzzy logic theory. Invest. Radiol. 37, 685-691 (2002).
30. Aikawa, M. et al. Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis. Circ. Res. 73, 1000-1012 (1993).