Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

European Journal of Human Genetics

Volumn 13, Issue 6, 2005, Pages 721-730

  Huang, Yanchao ^a   Verheesen, Peter ^b   Roussis, Andreas ^a   Frankhuizen, Wendy ^a   Ginjaar, Ieke ^a   Haldane, Faye ^c   Laval, Steve ^c   Anderson, Louise V B ^c   Verrips, Theo ^b   Frants, Rune R ^a   de Haard, Hans ^b   Bushby, Kate ^c   den Dunnen, Johan ^a   van der Maarel, Silvère M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Dysferlin; HCAb; Immunohistochemistry; Immunoprecipitation; Phage display

Indexed keywords

CALPAIN 3; DNA; DYSFERLIN; MONOCLONAL ANTIBODY; RECOMBINANT PROTEIN;

ANTIBODY SCREENING; ANTIBODY SPECIFICITY; ARTICLE; ARTIODACTYLA; CLINICAL ARTICLE; COMPARTMENT SYNDROME; CONTROLLED STUDY; DNA FINGERPRINTING; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; LIMB GIRDLE MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYOPATHY; MYOSHI MYOPATHY; NEUROMUSCULAR DISEASE; PATHOGENESIS; PHAGE DISPLAY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION; WESTERN BLOTTING;

ANIMALS; BLOTTING, WESTERN; CALPAIN; CAMELIDS, NEW WORLD; DNA MUTATIONAL ANALYSIS; HUMANS; IMMUNOASSAY; IMMUNOGLOBULIN FRAGMENTS; IMMUNOGLOBULIN HEAVY CHAINS; IMMUNOPRECIPITATION; ISOENZYMES; MEMBRANE PROTEINS; MICROSCOPY, FLUORESCENCE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; PEPTIDE LIBRARY; RECOMBINANT FUSION PROTEINS;

ARTIODACTYLA; LAMA GLAMA;

EID: 20544465385     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201414     Document Type: Article

References (30)

1. Liu J, Aoki M, Illa I et al: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-36.
2. Bashir R, Britton S, Strachan T et al: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37-42.
3. Illa I, Serrano-Munuera C, Gallardo E et al: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001; 49: 130-134.
4. Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T: Clinical heterogeneity in dysferlinopathy. Intern Med 2002; 41: 532-536.
5. Davis DB, Delmonte AJ, Ly CT, McNally EM: Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum Mol Genet 2000; 9: 217-226.
6. Yasunaga S, Grati M, Chardenoux S et al: OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 2000; 67: 591-600.
7. Bansal D, Miyake K, Vogel SS et al: Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003; 423: 168-172.
8. Prelle A, Sciacco M, Tancredi L et al: Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol (Berl) 2003; 105: 537-542.
9. Piccolo F, Moore SA, Ford GC, Campbell KP: Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000; 48: 902-912.
10. Matsuda C, Hayashi YK, Ogawa M et al: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10: 1761-1766.
11. McNally EM, de Sa ME, Duggan DJ et al: Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998; 7: 871-877.
12. Hoogenboom HR: Overview of antibody phage-display technology and its applications. Methods Mol Biol 2002; 178: 1-37.
13. Muyldermans S, Lauwereys M: Unique single-domain antigen binding fragments derived from naturally occurring camel heavy-chain antibodies. J Mol Recognit 1999; 12: 131-140.
14. Zhang J, Tanha J, Hirama T et al: Pentamerization of single-domain antibodies from phage libraries: a novel strategy for the rapid generation of high-avidity antibody reagents. J Mol Biol 2004; 335: 49-56.
15. Tanha J, Dubuc G, Hirama T, Narang SA, MacKenzie CR: Selection by phage display of llama conventional V(H) fragments with heavy chain antibody V(H)H properties. J Immunol Methods 2002; 263: 97-109.
16. Frenken LG, van der Linden RH, Hermans PW et al: Isolation of antigen specific llama VHH antibody fragments and their high level secretion by Saccharomyces cerevisiae. Biotechnol 2000; 78: 11-21.
17. van Koningsbruggen S, de Haard H, de Kievit P et al: Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. J Immunol Methods 2003; 279: 149-161.
18. Aoki M, Liu J, Richard I et al: Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001; 57: 271-278.
19. Liu B, Huang L, Sihlbom C, Burlingame A, Marks JD: Towards proteome-wide production of monoclonal antibody by phage display. J Mol Biol 2002; 315: 1063-1073.
20. Kazemier B, de Haard H, Boender P, van Gemen B, Hoogenboom H: Determination of active single chain antibody concentrations in crude periplasmic fractions. J Immunol Methods 1996; 194: 201-209.
21. Cooper ST, Lo HP, North KN: Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology 2003; 61: 93-97.
22. Vu KB, Ghahroudi MA, Wyns L, Muyldermans S: Comparison of llama VH sequences from conventional and heavy chain antibodies. Mol Immunol 1997; 34: 1121-1131.
23. Harmsen MM, Ruuls RC, Nijman IJ, Niewold TA, Frenken LG, de Geus B: Llama heavy-chain V regions consist of at least four distinct subfamilies revealing novel sequence features. Mol Immunol 2000; 37: 579-590.
24. Walter MC, Braun C, Vorgerd M et al: Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 2003; 250: 1431-1438.
25. Fanin M, Pegoraro E, Matsuda-Asada C, Brown Jr RH, Angelini C: Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001; 56: 660-665.
26. Anderson LV, Harrison RM, Pogue R et al: Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000; 10: 553-559.
27. Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown Jr RH: Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003; 278: 50466-50473.
28. Lou J, Marzari R, Verzillo V et al: Antibodies in haystacks: how selection strategy influences the outcome of selection from molecular diversity libraries. J Immunol Methods 2001; 253: 233-242.
29. Nicholson LV: The 'rescue' of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscular Disord 1993; 3: 525-531.
30. Taveau M, Bourg N, Sillon G, Roudaut C, Bartoli M, Richard I: Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. Mol Cell Biol 2003; 23: 9127-9135.