4xa4

Structural highlights

Disease

MYH7_HUMAN Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.^{[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] [24] [25] [26] [27] [28] [29] [30] [31] [32] [33] [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] [44] [45] [46] [47] [48] [49] [50] [51] [52]} Defects in MYH7 are the cause of myopathy myosin storage (MYOMS) [MIM:608358. In this disorder, muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers.^{[53] [54] [55]} Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430; also known as scapuloperoneal syndrome myopathic type. SPMM is a progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.^[56] Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:613426. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.^{[57] [58] [59] [60]} Defects in MYH7 are the cause of myopathy distal type 1 (MPD1) [MIM:160500. MPD1 is a muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.^{[61] [62]}

Function

XRCC4_HUMAN Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.^{[63] [64] [65] [66]} MYH7_HUMAN Muscle contraction.

References

1. ↑ Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 Sep 7;62(5):999-1006. PMID:1975517
2. ↑ Nishi H, Kimura A, Harada H, Toshima H, Sasazuki T. Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 1992 Oct 15;188(1):379-87. PMID:1417858
3. ↑ Epstein ND, Cohn GM, Cyran F, Fananapazir L. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. Circulation. 1992 Aug;86(2):345-52. PMID:1638703
4. ↑ Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992 Apr 23;326(17):1108-14. PMID:1552912
5. ↑ Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE. Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet. 1993 Dec;53(6):1180-5. PMID:8250038
6. ↑ Harada H, Kimura A, Nishi H, Sasazuki T, Toshima H. A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. Biochem Biophys Res Commun. 1993 Jul 30;194(2):791-8. PMID:8343162 doi:http://dx.doi.org/10.1006/bbrc.1993.1891
7. ↑ al-Mahdawi S, Chamberlain S, Cleland J, Nihoyannopoulos P, Gilligan D, French J, Choudhury L, Williamson R, Oakley C. Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Br Heart J. 1993 Feb;69(2):136-41. PMID:8435239
8. ↑ Moolman JC, Brink PA, Corfield VA. Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mol Genet. 1993 Oct;2(10):1731-2. PMID:8268932
9. ↑ Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S, et al.. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest. 1993 Dec;92(6):2807-13. PMID:8254035 doi:http://dx.doi.org/10.1172/JCI116900
10. ↑ Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7. PMID:8483915
11. ↑ Consevage MW, Salada GC, Baylen BG, Ladda RL, Rogan PK. A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Genet. 1994 Jun;3(6):1025-6. PMID:7848441
12. ↑ Greve G, Bachinski L, Friedman DL, Czernuzewicz G, Anan R, Towbin J, Seidman CE, Roberts R. Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. Hum Mol Genet. 1994 Nov;3(11):2073-5. PMID:7874131
13. ↑ Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, et al.. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994 Jan;93(1):280-5. PMID:8282798 doi:http://dx.doi.org/10.1172/JCI116957
14. ↑ Moolman JC, Brink PA, Corfield VA. Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mutat. 1995;6(2):197-8. PMID:7581410 doi:http://dx.doi.org/10.1002/humu.1380060219
15. ↑ Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3864-8. PMID:7731997
16. ↑ Ko YL, Chen JJ, Tang TK, Cheng JJ, Lin SY, Liou YC, Kuan P, Wu CW, Lien WP, Liew CC. Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. Hum Genet. 1996 May;97(5):585-90. PMID:8655135
17. ↑ Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, Chen Z. Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1996 Sep;28(9):1879-83. PMID:8899546 doi:S0022-2828(96)90180-7
18. ↑ Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Vigano M. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart. 1998 Dec;80(6):548-58. PMID:10065021
19. ↑ Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, Vosberg HP. A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. Hum Genet. 1998 Mar;102(3):299-304. PMID:9544842
20. ↑ Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautie N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M. Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. Hum Mutat. 1998;12(6):385-92. PMID:9829907 doi:<385::AID-HUMU4>3.0.CO;2-E 10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E
21. ↑ Jaaskelainen P, Soranta M, Miettinen R, Saarinen L, Pihlajamaki J, Silvennoinen K, Tikanoja T, Laakso M, Kuusisto J. The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. J Am Coll Cardiol. 1998 Nov 15;32(6):1709-16. PMID:9822100
22. ↑ Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet. 1999 Nov;65(5):1308-20. PMID:10521296 doi:S0002-9297(07)62137-5
23. ↑ Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Kjeldsen K, Christiansen M. Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. Clin Genet. 1999 Sep;56(3):244-6. PMID:10563488
24. ↑ Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, Vuust J, Kjeldsen K, Christiansen M. Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. J Mol Cell Cardiol. 1999 Apr;31(4):745-50. PMID:10329202 doi:S0022-2828(98)90911-7
25. ↑ Sakthivel S, Joseph PK, Tharakan JM, Vosberg HP, Rajamanickam C. A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family. Hum Mutat. 2000 Mar;15(3):298-9. PMID:10679957 doi:<298::AID-HUMU22>3.0.CO;2-7 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7
26. ↑ Anan R, Shono H, Tei C. Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. Hum Mutat. 2000 Jun;15(6):584. PMID:10862102 doi:<584::AID-HUMU25>3.0.CO;2-R 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R
27. ↑ Enjuto M, Francino A, Navarro-Lopez F, Viles D, Pare JC, Ballesta AM. Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. J Mol Cell Cardiol. 2000 Dec;32(12):2307-13. PMID:11113006 doi:10.1006/jmcc.2000.1260
28. ↑ Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, Christiansen M. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. Scand Cardiovasc J. 2000 Dec;34(6):558-63. PMID:11214007
29. ↑ Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND. The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell. 2001 Nov 30;107(5):631-41. PMID:11733062
30. ↑ Blair E, Price SJ, Baty CJ, Ostman-Smith I, Watkins H. Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. J Med Genet. 2001 Jun;38(6):385-8. PMID:11424919
31. ↑ Greber-Platzer S, Marx M, Fleischmann C, Suppan C, Dobner M, Wimmer M. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol. 2001 Jan;33(1):141-8. PMID:11133230 doi:10.1006/jmcc.2000.1287
32. ↑ Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002 Jun 25;105(25):2992-7. PMID:12081993
33. ↑ Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002 Feb 22;90(3):263-9. PMID:11861413
34. ↑ Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP. Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat. 2002 May;19(5):560-9. PMID:11968089 doi:10.1002/humu.10074
35. ↑ Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003 Sep 19;309(2):391-8. PMID:12951062
36. ↑ Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M. Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. Cardiovasc Res. 2003 Feb;57(2):347-57. PMID:12566107
37. ↑ Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. PMID:12707239 doi:10.1161/01.CIR.0000066323.15244.54
38. ↑ Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003 Oct;64(4):339-49. PMID:12974739
39. ↑ Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L. Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. Genet Test. 2003 Spring;7(1):21-7. PMID:12820698 doi:10.1089/109065703321560895
40. ↑ Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart. 2003 Oct;89(10):1179-85. PMID:12975413
41. ↑ Moric E, Mazurek U, Polonska J, Domal-Kwiatkowska D, Smolik S, Kozakiewicz K, Tendera M, Wilczok T. Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain. J Appl Genet. 2003;44(1):103-9. PMID:12590187
42. ↑ Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol. 2003 Jul;35(7):841-9. PMID:12818575
43. ↑ Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. PMID:15358028 doi:10.1016/j.jacc.2004.04.039
44. ↑ Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta. 2005 Jan;351(1-2):209-16. PMID:15563892 doi:10.1016/j.cccn.2004.09.016
45. ↑ Hougs L, Havndrup O, Bundgaard H, Kober L, Vuust J, Larsen LA, Christiansen M, Andersen PS. One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Eur J Hum Genet. 2005 Feb;13(2):161-5. PMID:15483641 doi:10.1038/sj.ejhg.5201310
46. ↑ Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson RB, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. J Clin Pathol. 2005 May;58(5):479-85. PMID:15858117 doi:10.1136/jcp.2004.021642
47. ↑ Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005 Oct;42(10):e59. PMID:16199542 doi:10.1136/jmg.2005.033886
48. ↑ Perrot A, Schmidt-Traub H, Hoffmann B, Prager M, Bit-Avragim N, Rudenko RI, Usupbaeva DA, Kabaeva Z, Imanov B, Mirrakhimov MM, Dietz R, Wycisk A, Tendera M, Gessner R, Osterziel KJ. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Mol Med. 2005 Jun;83(6):468-77. Epub 2005 Apr 22. PMID:15856146 doi:10.1007/s00109-005-0635-7
49. ↑ Tanjore RR, Sikindlapuram AD, Calambur N, Thakkar B, Kerkar PG, Nallari P. Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. Clin Genet. 2006 May;69(5):434-6. PMID:16650083 doi:10.1111/j.1399-0004.2006.00599.x
50. ↑ Mora R, Merino JL, Peinado R, Olias F, Garcia-Guereta L, del Cerro MJ, Tarin MN, Molano J. [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene] Rev Esp Cardiol. 2006 Aug;59(8):846-9. PMID:16938236
51. ↑ Tajsharghi H, Oldfors A, Macleod DP, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology. 2007 Mar 20;68(12):962. PMID:17372140 doi:10.1212/01.wnl.0000257131.13438.2c
52. ↑ Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008, Apr 9. PMID:18403758 doi:10.1056/NEJMoa075463
53. ↑ Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct;54(4):494-500. PMID:14520662 doi:10.1002/ana.10693
54. ↑ Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology. 2004 May 11;62(9):1518-21. PMID:15136674
55. ↑ Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. Epub 2007 Mar 2. PMID:17336526 doi:10.1016/j.nmd.2007.01.010
56. ↑ Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. Epub 2007 Mar 2. PMID:17336526 doi:10.1016/j.nmd.2007.01.010
57. ↑ Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. PMID:11106718 doi:10.1056/NEJM200012073432304
58. ↑ Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002 Oct 18;298(1):116-20. PMID:12379228
59. ↑ Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15. PMID:15769782 doi:ehi193
60. ↑ Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub, 2011 Aug 4. PMID:21846512 doi:10.1016/j.ejmg.2011.07.005
61. ↑ Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. PMID:15322983 doi:10.1086/424760
62. ↑ Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology. 2007 Jun 5;68(23):2041-2. PMID:17548557 doi:10.1212/01.wnl.0000264430.55233.72
63. ↑ Li Z, Otevrel T, Gao Y, Cheng HL, Seed B, Stamato TD, Taccioli GE, Alt FW. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell. 1995 Dec 29;83(7):1079-89. PMID:8548796
64. ↑ Chen L, Trujillo K, Sung P, Tomkinson AE. Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase. J Biol Chem. 2000 Aug 25;275(34):26196-205. PMID:10854421 doi:10.1074/jbc.M000491200
65. ↑ Nick McElhinny SA, Snowden CM, McCarville J, Ramsden DA. Ku recruits the XRCC4-ligase IV complex to DNA ends. Mol Cell Biol. 2000 May;20(9):2996-3003. PMID:10757784
66. ↑ Foster RE, Nnakwe C, Woo L, Frank KM. Monoubiquitination of the nonhomologous end joining protein XRCC4. Biochem Biophys Res Commun. 2006 Mar 3;341(1):175-83. Epub 2006 Jan 6. PMID:16412978 doi:S0006-291X(05)02903-7
67. ↑ Taylor KC, Buvoli M, Korkmaz EN, Buvoli A, Zheng Y, Heinze NT, Cui Q, Leinwand LA, Rayment I. Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly. Proc Natl Acad Sci U S A. 2015 Jul 6. pii: 201505813. PMID:26150528 doi:http://dx.doi.org/10.1073/pnas.1505813112