The lethal hemolytic mutation in βIΣ2 spectrin providence yields a null phenotype in neonatal skeletal muscle

Laboratory Investigation

Volumn 74, Issue 6, 1996, Pages 1117-1129

  Weed, Scott A ^a   Stabach, Paul R ^a   Oyer, Calvin E ^b   Gallagher, Patrick G ^a   Morrow, Jon S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BROWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; SPECTRIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELLULAR DISTRIBUTION; HISTOPATHOLOGY; HUMAN; INFANT; LETHAL MUTANT; NEWBORN; NEWBORN HEMOLYTIC DISEASE; OLIGOMERIZATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SKELETAL MUSCLE; TISSUE DISTRIBUTION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; HEMOLYSIS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MICE; MICE, INBRED C3H; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; SARCOLEMMA; SPECTRIN; TRANSFECTION;

EID: 0029953791     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Amersham International plc (1993). ECL Western blotting protocols RPN2106 (technical bulletin). Amersham, UK: Amersham International plc.
2. Bennett V and Lambert S (1991). The spectrin skeleton: From red cells to brain. J Clin Invest 87:1483-1489.
3. Blau HM, Pavlath GK, Hardeman EC, Chiu CP, Silberstein L, Webster SG, Miller SC, and Webster C (1985). Plasticity of the differentiated state. Science 230:758-766.
4. Bloch RJ and Morrow JS (1989). An unusual β-spectrin associated with clustered acetylcholine receptors. J Cell Biol 108:481-493.
5. Bosman GJ, Visser FE, De Man AJ, Bartholomeus IG, and De Grip WJ (1993). Erythrocyte membrane changes of individuals with Down's syndrome in various stages of Alzheimer-type dementia. Neurobiol Aging 14:223-228.
6. Byers TJ, Kunkel LM, and Watkins SC (1991). The subcellular distribution of dystropin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol 115:411-421.
7. Craig SW and Pardo JV (1983). Gamma actin, spectrin, and intermediate filament proteins colocalize with vinculin at costameres, myofibril-to-sarcolemma attachemnt sites. Cell Motil 3:449-462.
8. Danowski BA, Imanaka-Yoshida K, Sanger JM, and Sanger JW (1992). Costameres are sites of force transmission to the substratum in adult rat cardiomyocytes. J Cell Biol 118:1411-1420.
9. Delaunay J and Dhermy D (1993). Mutations involving the spectrin heterodimer contact site: Clinical expression and alterations in specific function. Semin Hematol 30:21-33.
10. Gallagher PG and Forget BG (1993). Spectrin genes in health and disease. Semin Hematol 30:4-20.
11. Gallagher PG, Tse WT, Costa F, Scarpa A, Boivin P, Delaunay J, and Forget BG (1991). A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. J Biol Chem 266:15154-15159.
12. Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL, Mohandas N, and Forget BG (1995). Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene [see comments]. J Clin Invest 95:1174-1182.
13. Gordon H and Hall ZW (1989). Glycosaminoglycan variants in the C2 muscle cell line. Dev Biol 135:1-11.
14. Harris AS, Anderson JP, Yurchenco PD, Green LAD, ainger KJ, and Morrow JS (1986). Mechanisms of cytoskeletal regulation: Functional and antigenic diversity in human erythrocyte and brain beta spectrin. J Cell Biochem 30:51-70.
15. Harris AS and Morrow JS (1990). Calmodulin and calcium-dependent protease I coordinately regulate the interaction of fodrin with actin. Proc Natl Acad Sci USA 87:3009-3013.
16. Hirokawa N, Cheney RE, and Willard M (1983). Location of a protein of the fodrin-spectrin-TW260/240 family in the mouse intestinal brush border. Cell 32:953-965.
17. Hoffman EP, Brown RH, and Kunkel LM (1987). Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928.
18. Hopp TP, Pricket KS, Price V, Libby RT, March CJ, Cerretti P, Urdal DL, and Conlon PJ (1988). A short polypeptide marker sequence useful for recombinant protein identification and purification. Biotechnology (N Y) 6:1205-1210.
19. Kennedy SP, Weed SA, Forget BG, and Morrow JS (1994). A partial structural repeat forms the heterodimer self-association site of all β-spectrins. J Biol Chem 269:11400-11408.
20. Kotula L, DeSilva TM, Speicher DW, and Curtis PJ (1993). Functional characterization of recombinant human red cell α-spectrin polypeptides containing the tetramer binding site. J Biol Chem 268:14788-14793.
21. Laemmli UK (1970). Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.
22. 2- and COOH-terminal membrane assodation domains (MAD1 and MAD2). J Biol Chem 269:29212-29219.
23. Lowry OH, Rosebrough NJ, Farr AL, and Randall RJ (1951). Protein measurement with the folin phenol reagent. J Biol Chem 193:265-275.
24. Lux SE and Palek J (1995). Disorders of the red cell membrane. In: Handin RI, Lux SE, and Stossel TP, editors. Blood: Principles and practice of hematology. Philadelphia: JB Lippincott, 1701-1816.
25. Malchiodi-Albedi F, Ceccarini M, Winkelmann JC, Morrow JS, and Petrucci TC (1993). The 270 kDa splice variant of erythrocyte β-spectrin (βIΣ2) segregates in vivo and in vitro to specific domains of cerebellar neurons. J Cell Sci 106:67-78.
26. Matsamura K, Ervasti JM, Ohlendieck K, Khal KD, and Campbell KP (1992). Association of dystrophin-related protein with dystrophin-associated protiens with mdx mouse muscle. Nature 360:588-591.
27. Morrow JS and Marchesi VT (1981). Self-assembly of spectrin oligomers in vitro: A basis for a dynamic cytoskeleton. J Cell Biol 88:463-468.
28. Morrow JS, Rimm DL, Kennedy SP, Cianci CD, Sinard JH, and Weed SA (1996). Of membrane stability and mosaics: The spectrin cytoskeleton. In: Hoffman J and Jamieson J, editors. Handbook of physiology. London: Oxford University Press.
29. Morrow JS, Speicher DW, Knowles WJ, Hsu CJ, and Marchesi VT (1980). Identification of functional domains of human erythrocyte spectrin. Proc Natl Acad Sci USA 77: 6592-6596.
30. Norton AJ, Jordan S, and Yeomans P (1994). Brief, high-temperature heat denaturation (pressure cooking): A simple and effective method of antigen retrieval for routinely processed tissues. J Pathol 173:371-379.
31. Pasternak C, Wong S, and Elson EL (1995). Mechanical function of dystrophin in muscle cells. J Cell Biol 128:355-361.
32. Porter GA (1993). The membrane skeleton of costameres. Baltimore, Maryland: University of Maryland School of Medicine. Thesis.
33. Porter GA, Dmytrenko GM, Winkelmann JC, and Bloch RJ (1992). Dystrophin colocalizes with β-spectrin in distinct subsarcolemmal domains in mammalian skeletal muscle. J Cell Biol 117:997-1005.
34. Pumplin DW (1995). The membrane skeleton of acetylcholine receptor domains in rat myotubes contains antiparallel homodimers of β-spectrin in filaments quantitatively resembling those of erythrocytes. J Cell Sci 108:3145-3154.
35. Riederer BM, Zagon IS, and Goodman SR (1986). Brain spectrin (240/235) and brain spectrin (240/235E): Two distinct spectrin subtypes with different locations within mammalian neural cells. J Cell Biol 102:2088-2096.
36. Sambrook J, Fritsch EF, and Maniatis T (1989). Molecular cloning: A laboratory manual. New York: Cold Spring Harbor Laboratory Press.
37. Squarzoni S, Sabatelli P, Maltarello MC, Cataldi A, Di Primio R, and Maraldi NM (1992). Localization of dystrophin COOH-terminal domain by the fracture-label technique. J Cell Biol 118:1401-1409.
38. Tinsley JM, Blake DJ, Pearce M, Knight AE, Kendrick JJ, and Davies KE (1993). Dystrophin and related proteins. Curr Opin Genet Dev 3:484-490.
39. Touhara K, Inglese J, Pitcher JA, Shaw G, and Lefkowitz RJ (1994). Binding of G protein beta gamma-subunits to pleckstrin homology domains. J Biol Chem 269:10217-10220.
40. Towbin M, Staehelin T, and Gordon J (1979). Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedures and some applications. Proc Natl Acad Sci USA 76:4350-4354.
41. Tsung PK and Palek J (1980). Red cell membrane protein phosphorylation in hemolytic anemias and muscular dystrophies. Muscle Nerve 3:55-69.
42. Vybiral T, Winkelmann JC, Roberts R, Joe EH, Casey DL, Williams JK, and Epstein HF (1992). Human cardiac and skeletal muscle spectrins: Differential expression and localization. Cell Motil Cytoskeleton 21:293-304.
43. Wang DS and Shaw G (1995). The association of the C-terminal region of beta I sigma II spectrin to brain membranes is mediated by a PH domain, does not require membrane proteins, and coincides with a inositol-1,4,5 triphosphate binding site. Biochem Biophys Res Commun 217:608-615.
44. Wang DS, Shaw R, Winkelmann JC, and Shaw G (1994). Binding of PH domains of beta-adrenergic receptor kinase and beta-spectrin to WD40/beta-transducin repeat containing regions of the beta-subunit of trimeric G-proteins. Biochem Biophys Res Commun 203:29-35.
45. Winkelmann JC, Chang JG, Tse WT, Scarpa AL, Marchesi VT, and Forget BG (1990a). Full-length sequence of the cDNA for human erythroid beta-spectrin. J Biol Chem 265:11827-11832.
46. Winkelmann JC, Costa FF, Linzie BL, and Forget BG (1990b). Beta-spectrin in human skeletal muscle: Tissue-specific differential processing of 3′ beta spectrin pre-mRNA generates a beta-spectrin isoform with a unique carboxyl terminus. J Biol Chem 265:20449-20454.
47. Winkelmann JC and Forget BG (1993). Erythroid and nonerythroid spectrins. Blood 81:3173-3185.
48. Wolff JA, Ludtke JJ, Acsadi G, Williams P, and Jani A (1992). Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle. Hum Mol Genet 1:363-369.
49. Wolff JA, Malone RT, Williams P, Chong W, Acsadi G, Jani A, and Feigner PL (1990). Direct gene transfer into mouse muscle in vivo. Science 247:1465-1468.
50. Younes M, Harris AS, and Morrow JS (1989). Fodrin as a differentiation marker: Redistributions in colonic neoplasia. Am J Pathol 135:1197-1212.