A 5' dystrophin duplication mutation causes membrane deficiency of α-dystroglycan in a family with x-linked cardiomyopathy

Journal of Molecular and Cellular Cardiology

Volumn 29, Issue 12, 1997, Pages 3175-3188

  Bies, Roger D ^a   Maeda, Masato ^a   Roberds, Steven L ^b   Holder, Emma ^a   Bohlmeyer, Teresa ^a   Young, James B ^c   Campbell, Kevin P ^b  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Cardiomyopathy; Dystrophin; Muscular dystrophy; Utrophin; dystroglycan

Indexed keywords

DYSTROGLYCAN; DYSTROPHIN; MESSENGER RNA; RIBONUCLEASE; UTROPHIN;

ADOLESCENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HEART DILATATION; HEART FUNCTION; HEART MUSCLE FIBER MEMBRANE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MALE; MEMBRANE BINDING; MEMBRANE DAMAGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ASSEMBLY; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN STABILITY; X CHROMOSOME LINKAGE;

EID: 0031457219     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmcc.1997.0568     Document Type: Article

References (44)

1. BIES RD, CASKEY CT, FENWICK R, 1992a. An intact cysteine-rich domain is required for dystrophin function. J Clin Invest 90: 666-672.
2. BIES RD, PHELPS S, CORTEZ M, ROBERTS R, CASKEY CT, CHAMBERLAIN JS, 1992b. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart and brain development. Nucl Acids Res 20: 1725-1731.
3. BIES RD, FREIDMAN D, ROBERTS R, PERRYMAN MB, CASKEY CT, 1992c. Expression and localization of dystrophin in human cardiac Purkinje fibers. Circulation 86: 147-153.
4. BONNEMAN C, MODI R, NOGUCHI S, MIZUNO Y, YOSHIDA M, GUSSONI E, MCNALLY E, DUGGAN D, ANGELINI C, HOFFMAN E, OZAWA E, KUNKEL L, 1995. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 11: 266-273.
5. CHIRGWIN JM, PRZYBUKLA AE, MACDONALD RJ, RUTTER WJ, 1979. Isolation of biologically active ribonucleic acid from sources rich in ribonucleases. Biochemistry 13: 2633-2637.
6. ERVASTI JM, CAMPBELL KP, 1991. Membrane organization of the dystrophin-glycoprotein complex. Cell 66: 1121-1131.
7. FEENER CA, KOENIG M, KUNKEL LM, 1989. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 338: 509-511.
8. FRANZ WM, CREMER M, HERRMANN R, GRUNIG E, FOGEL W, SCHEFFOLD R, GOEBEL H, KIRCHEISEN R, KUBLER W, VOIT T, KATUS H, 1995. X-linked dilated cardiomyopathy. Ann NY Acad Sci 752: 470-491.
9. GOLDSTEIN J, BROWN MS, 1988. Genetics and cardiovascular disease. In: Braunwald E (ed.). Heart Disease, 3rd ed. Philadelphia, PA: W.B. Saunders company, 1633.
10. GORECKI DC, MONACO AP, DERRY JMJ, WALKER AP, BARNARD EA, BARNARD PJ, 1992. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1: 505-510.
11. HOFFMAN E, BROWN R, KUNKEL L, 1987. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928.
12. HOLDER E, MAEDA M, BIES RD, 1996. Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum Genet 97: 232-239.
13. IBRAGHIMOV-BESKROVNAYA O, ERVASTI JM, LEVEILLE CJ, SLAUGHTER CA, SERNETT SW, CAMPBELL KP, 1992. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696-702.
14. KLIETSCH R, ERVASTI JM, ARNOLD W, CAMPBELL KP, JORGENSEN AO, 1993. Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circ Res 72: 349-360.
15. KOENIG M, BEGGS AH, MOYER M, et al., 1989. The molecular basis for Duchenne verses Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45: 498-506.
16. LIM L, DUCLOS, F, BROUX O, BOURG N, SUNADA Y, ALLAMAND V, MEYER J, RICHARD I, MOOMAW C, SLAUGHTER C, TOME F, FARDEAU M, JACKSON C, BECKMANN J, CAMPBELL K, 1995. β-sarcoglycan: characterization and role in limbgirdle muscular dystrophy. Nature Genet 11: 257-265.
17. MAEDA M, NAKAO S, MIYAZATO H, SETOGUCHI M, ARIMA S, HIGUCHI I, OSAME M, TAIRA A, NOMOTO K, TODA H, TAHARA M, ATSUCHI Y, TANAKA H, 1995a. Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy. Am Heart J 129: 702-707.
18. MAEDA M, TAFT C, BUSH E, HOLDER E, NEVILLE H, BAILEY W, PERRYMAN MB, BIES RD, 1995b. Identification tissue specific expression, and subcellular localization of the 71-and 80-kDa forms of myotonic dystrophy kinase protein. J Biol Chem 270: 20246-20249.
19. MAEDA M, HOLDER E, LOWES B, BIES RD, 1997. Dilated cardiomyopathy associated with deficiency of the cytoskeletel protein metavinculin. Circulation 95: 17-20.
20. MATSUMURA K, CAMPBELL KP, 1994. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 17: 2-15.
21. MATSUMURA K, ERVASTI J, OHLENDIEK K, KAHL S, CAMPBELL K, 1992. Association of dystrophin-related protein with dystrophin-associated proteins in max mouse muscle. Nature 360: 588-591.
22. MICHELS V, MOLL P, MILLER F, TAJAK A, CHU J, DRISKOLL D, BURNETT J, ROCLEHEFFER RJ, TAJIK JA, BEGGS AH, KUNKEL LM, THIBODEAU SN, 1992. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 326: 77-82.
23. MILASIN J, FRANCESCO M, SEVERINI GM, BARTOLONI L, VATTA M, KRAJINOVIC M, MATEDDU A, ANGELINI, C, CAMERINI F, FALASCHI A, MESTRONI L, GIACCA M, 1996. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 5: 73-79.
24. MUNTONI F, CAU M, GANAU A, CONGIU R, ARVEDI G, MATEDDU A, MARROSU M, CIANCHETTI C, REALDI G, CAO A, MELIS M, 1993. Deletion of the muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329: 921-925.
25. MUNTONI F, WILSON L, MARROSU, MARROSU MG, CIANCHETTI C, MESTRONI K. GANAU A, DOBOWITZ V, SEWRY C, 1995a. A Mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 96: 693-699.
26. MUNTONI F, MELIS MA, GANAU A, DUBOWITZ V, 1995b. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 56: 151-157.
27. NOGUCHI S, MCNALLY E, OTHMANE K, HAGIWARA Y, MIZUNO Y, YOSHIDA M, YAMAMOTO H, BONNEMANN CG, GUSSONI E, DENTON PH, KYRIAKIDES T, MIDDLETON, HENTATI F, HAMIDA MB, NONAKA I, VANCE JM, KUNKEL LM, OZAWA E, 1995. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 240: 819-822.
28. NUDEL U, ZUK D, ZEELON E, LEVY Z, NEUMAN S, YAFFE D, 1989. Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 337: 76-78.
29. OHLENDIECK K, ERVASTI JM, MATSUMURA K, KAHL SD, LEVEILLE CJ, CAMPBELL KP, 1991a. Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle. Neuron 7: 499-508.
30. OHLENDIECK K, CAMPBELL KP, 1991b. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol 115: 1685-1694.
31. OHLENDIECK K, MATSUMURA K, IONASESCU VV, TOWBIN JA, BOSCH EP, WEINSTEIN SL, SERNETT SW, CAMPBELL KP, 1993. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 43: 795-800.
32. ORTIZ-LOPEZ R, LI H, SU J, GOYTIA V, TOWBIN J, 1997. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 95: 2434-2440.
33. PALMUCCI L, DORIGUZZI L, MONGINI T, CHIADO-PIAT L, RESTAGANO G, CARBONARA A, PAOLILLO V, 1992. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci 111: 218-221.
34. PERLOFF J, DELEON A, O'DOHERTY D, 1966. The cardiomyopathy of progressive muscular dystrophy. Circulation 33: 625-629.
35. PONS F, ROBERT A, FABBRIZIO E, HUGON G, CALIFANO JC, FEHRENTZ JA, MARTINEZ J, MORNET D, 1994. Utrophin localization in normal and dystrophin-deficient heart. Circulation 90: 369-374.
36. REES W, SCHULER S, HUMMEL M, HETZER R, 1993. Heart transplantation in patients with muscular dystrophy associated with end-stage cardiomyopathy. J Heart Lung Transplant 12: 804-807.
37. ROBERDS S, ERVASTI J, ANDERSON R, OHLENDIECK K, KAHL S, ZOLOTO D, CAMPBELL K, 1993. Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. J Biol Chem 268: 11496-11499.
38. ROBERDS S, LETURCQ F, ALLAMAND V, PICCOLO F, JEANPIERRE M, ANDERSON R, LIM L, LEE JC, TOME FMS, ROMERO NB, FARDEAU M, BECKMANN JS, KAPLAN J-C, CAMPBELL KP, 1994. Missense Mutations in the Adhalin Gene Linked to Autosomal Recessive Muscular Dystrophy. Cell 78: 625-633.
39. TINSLEY JM, POTTER AC, PHELPS SR, FISHER R, TRICKETT JI, DAVIES KE, 1996. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 384: 349-353.
40. TOWBIN J, HEJTMANCIK J, BRINK P, GELB B, ZHU X, CHAMBERLAIN J, McCABE E, SWIFT M, 1993. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87: 1854-1965.
41. TOWBIN JA, 1995. Biochemical and molecular characterization of X-linked dilated cardiomyopathy (XLCM). In: Clark EB, Markwald RR and Takao A (eds). Developmental Mechanisms of Heart Disease. New York: Futura Publishing Co. Inc., 121-132.
42. WELLS DJ, WEELS KE, ASANTE EA, TURNER G, SUNADA Y, CAMPBELL KP, WALSH FS, DICKSON G, 1995. Expression of full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 4: 1245-1250.
43. WINNARD AV, MENDELL JR, PRIOR TW, FLORENCE J, BURGHES AHM, 1995. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 56: 158-166.
44. YOSHIDA K, IKEDA S, NAKAMURE A, KAGOSHIMA M, TAKEDA S, SHOJI S, YANAGISAWA N, 1993. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 16: 1161-1166.