메뉴 건너뛰기




Volumn 280, Issue 5364, 1998, Pages 750-752

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN;

EID: 0032076955     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.280.5364.750     Document Type: Article
Times cited : (610)

References (39)
  • 2
    • 0026629099 scopus 로고
    • T. A. Manolio et al., Am. J. Cardiol. 69, 1458 (1992); E. K. Kasper et al., J. Am. Coll. Cardiol. 23, 586 (1994).
    • (1992) Am. J. Cardiol. , vol.69 , pp. 1458
    • Manolio, T.A.1
  • 3
    • 0028295899 scopus 로고
    • T. A. Manolio et al., Am. J. Cardiol. 69, 1458 (1992); E. K. Kasper et al., J. Am. Coll. Cardiol. 23, 586 (1994).
    • (1994) J. Am. Coll. Cardiol. , vol.23 , pp. 586
    • Kasper, E.K.1
  • 6
    • 15944413013 scopus 로고    scopus 로고
    • 115200, 600884, 601154, 601493, and 601494
    • Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
    • Mendelian Inheritance in Man
  • 7
    • 0030968021 scopus 로고    scopus 로고
    • Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
    • (1997) Trends Cardiovasc. Med. , vol.7 , pp. 60
    • Olson, T.M.1    Keating, M.T.2
  • 8
    • 0029784361 scopus 로고    scopus 로고
    • Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
    • (1996) J. Clin. Invest. , vol.98 , pp. 1355
    • Bowles, K.R.1
  • 9
    • 84920312946 scopus 로고    scopus 로고
    • note
    • Echocardiograms and blood samples for DNA analyses were obtained from participating family members after informed, written consent.
  • 10
    • 33744839368 scopus 로고
    • 1/3 - 0.03 (age) - 7.2 + 12% [W. L. Henry, J. M. Gardin, J. H. Ware, Circulation 62, 1054 (1980)]; shortening fraction (%) = 100 x (LV end-diastolic dimension - LV end-systolic dimension) ÷ LV end-diastolic dimension.
    • (1916) Arch. Intern. Med. , vol.17 , pp. 863
    • Du Bois, D.1    Du Bois, E.F.2
  • 11
    • 0019165493 scopus 로고
    • 1/3 - 0.03 (age) - 7.2 + 12% [W. L. Henry, J. M. Gardin, J. H. Ware, Circulation 62, 1054 (1980)]; shortening fraction (%) = 100 x (LV end-diastolic dimension - LV end-systolic dimension) ÷ LV end-diastolic dimension.
    • (1980) Circulation , vol.62 , pp. 1054
    • Henry, W.L.1    Gardin, J.M.2    Ware, J.H.3
  • 13
    • 0030031004 scopus 로고    scopus 로고
    • V. V. Michels, D. J. Driscoll, F. A. Miller, Am. J. Caroiol. 55, 1232 (1985); T. M. Olson and M. T. Keating, J. Clin. Invest. 97, 528 (1996).
    • (1996) J. Clin. Invest. , vol.97 , pp. 528
    • Olson, T.M.1    Keating, M.T.2
  • 14
    • 84920312945 scopus 로고    scopus 로고
    • note
    • Hypertrophy of the heart was not evident on electrocardiograms or echocardiograms. Myofibrillar disarray, which is characteristic of hypertrophic cardiomyopathy, was absent on histopathologic examination of cardiac biopsy specimens.
  • 15
    • 0027547324 scopus 로고
    • I. R. Herman, Curr. Opin. Cell Biol. 5, 48 (1993); M. Gimona, et al., Cell Motil. Cytoskel. 27, 108 (1994); J. Vandekerckhove, G. Bugaisky, M. Buckingham, J. Biol. Chem. 261, 1838 (1986).
    • (1993) Curr. Opin. Cell Biol. , vol.5 , pp. 48
    • Herman, I.R.1
  • 16
    • 0028082047 scopus 로고
    • I. R. Herman, Curr. Opin. Cell Biol. 5, 48 (1993); M. Gimona, et al., Cell Motil. Cytoskel. 27, 108 (1994); J. Vandekerckhove, G. Bugaisky, M. Buckingham, J. Biol. Chem. 261, 1838 (1986).
    • (1994) Cell Motil. Cytoskel. , vol.27 , pp. 108
    • Gimona, M.1
  • 19
    • 2642646163 scopus 로고
    • Primers were designed according to the published genomic DNA sequence tor ACTC [H. Hamada, M. G. Petrino, T. Kakunaga, Proc. Natl. Acad. Sci. U.S.A. 79, 5901 (1982)] and OLIGO 4.03 Primer Analysis Software (National Biosciences, Plymouth, MN). The forward primer for exon 5 overlaps 5 base pairs (bp) of coding sequence to avoid a repetitive dinucleotide sequence near the intron-exon boundary. Primer sequences are as follows: exon1F, 5′-CCCCTGAAGCTGTGCCAAGA-3′; exon1R, 5′-GGCTCGGCGGGAAGTTTAC-3′; exon2F, 5′-TAAATGGACAAGACACTGATTAT-3′; exon2R, 5′-CAGCAAGGTCGGTGACTT-3′; exon3F, 5′-GCTAGAGCAGTGGTGTTGTC-3′; exon3R, 5′-AGGTAGGCGGATTCAGTG-3′; exon4F, 5′-CTCACTGAATCCGCCTACCT-3′; exon4R, 5′-CTACACCAGACCCTACAACTC-3′; exon5F, 5′-GACTCGTTCCCAGGTATG-3′; exon5R, 5′-GATCTCCCACTCACAAAAG-3′; exon 6F, 5′-AAGTTTTTGTTTTCTTCTGC-3′; exon 6R, 5′-CATAATACCGTCATCCTGA-3′. Polymerase chain reaction (PCR) product sizes for exons 1 to 6 are 167, 457, 292, 291, 222, and 214 bp, respectively.
    • (1982) Proc. Natl. Acad. Sci. U.S.A. , vol.79 , pp. 5901
    • Hamada, H.1    Petrino, M.G.2    Kakunaga, T.3
  • 20
    • 0024595101 scopus 로고
    • 32P]dCTP in a final volume of 10 μl. Amplification conditions were 94°C for 5 min, followed by 30 cycles of 94°C for 30 s, 52° to 60°C for 30 s, and 72°for 30 s followed by 72°for 10 min (Perkin-Elmer Cetus 9600 thermocycler). For exon 2, 10 °l of PCR product was digested with BgI II, resulting in 198- and 259-bp fragments. Reactions were diluted with 25 μl of 0.1 % SDS, 10 mM EDTA, and 25 μl of 95% formamide dye. Diluted samples were denatured at 94°C for 10 min, and 3-μl samples were subjected to gel electrophoresis under three conditions: 0.5x and 1x Mutation Detection Enhancement gels (FMC Bioproducts, Rockland, ME) at 800 V for 14 to 30 hours (room temperature) and 10% nondenaturing polyacrylamide (49:1 polyacrylamide:bisacrylamide) with 10% glycerol at 30 W for 4 to 6 hours (4°C). Gels were then dried for autoradiography.
    • (1989) Proc. Natl. Acad. Sci. U.S.A. , vol.86 , pp. 2766
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Sekiya, T.4
  • 21
    • 84920312944 scopus 로고    scopus 로고
    • T. M. Olson et al., data not shown
    • T. M. Olson et al., data not shown.
  • 22
    • 84920312943 scopus 로고    scopus 로고
    • note
    • 33P]-ddNTP (dideoxynucleoside triphosphates) cycle sequencing was performed with a Thermo Sequenase kit (Amersham Life Sciences, Cleveland, OH). Mutations were confirmed by PCR amplification and cycle sequencing of genomic DNA. No additional mutations were identified in other exons of ACTC for either family.
  • 23
    • 84920312942 scopus 로고    scopus 로고
    • note
    • Comparison of actin sequences was made by use of the combined protein database and the NCBI BLAST Web site (http://www.ncbi.nlm.nih.gov/cgi-bin/BLAST/nph-blast?form=1).
  • 27
    • 0030994919 scopus 로고    scopus 로고
    • K. C. Holmes, D. Popp, W. Gebhard, W. Kabsch, Nature 347, 44 (1990); C. C. Gregorio, Cell Struct. Funct. 22, 191 (1997).
    • (1997) Cell Struct. Funct. , vol.22 , pp. 191
    • Gregorio, C.C.1
  • 31
    • 0030922569 scopus 로고    scopus 로고
    • 302045
    • Mendelian Inheritance in Man 302045; R. Oritz-Lopez, H. Li, J. Su, V. Goytia, J. A. Towbin, Circulation 95, 2434 (1997).
    • Mendelian Inheritance in Man
  • 38
    • 0024988340 scopus 로고
    • W. Kabsch, H. G. Mannherz, D. Suck, E. F. Pai, K. C. Holmes, Nature 347, 37 (1990). The Insight II molecular modeling system software program (Biosym Technologies, San Diego) was used to create Fig. 3.
    • (1990) Nature , vol.347 , pp. 37
    • Kabsch, W.1    Mannherz, H.G.2    Suck, D.3    Pai, E.F.4    Holmes, K.C.5
  • 39
    • 84920312941 scopus 로고    scopus 로고
    • note
    • We thank D. Schaid, F. Miller, D. Driscoll, G. Orsmond, R. Shaddy, and H. Holtzer for support and helpful discussions; W. Edwards (print for Fig. 2); and J. Ross, D. Renlund, J. Mason, J. Anderson, M. Karst, and N. Kishimoto for assistance. Supported by Clinician Scientist Award 96004630 from the American Heart Association (T.M.O.), NIH SCOR grant 5-P50-HL-53773, Project 6 (M.T.K.), the John Patrick Albright Foundation, Public Health Services Research Grant M01-RR00064 from the National Center for Research Resources, and the Technology Access Section of the Utah Genome Center.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.