Zebrafish dystrophin and utrophin genes: Dissecting transcriptional expression during embryonic development

International Journal of Molecular Medicine

Volumn 29, Issue 3, 2012, Pages 338-348

  Lai, Daniel ^a   Lan, Chuan Ching ^a   Leong, Ivone Un San ^a   Love, Donald R ^a,b  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

Dystrophin; Quantitative real time PCR; Utrophin; Zebrafish

Indexed keywords

DYSTROPHIN; ELONGATION FACTOR 1ALPHA; NUCLEAR PROTEIN; RIBOSOMAL 13 ALPHA PROTEIN; UNCLASSIFIED DRUG; UTROPHIN;

AMINO ACID SEQUENCE; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; EMBRYO DEVELOPMENT; EXON; GENE EXPRESSION; MUSCLE DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DYSTROPHIN; EXONS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE ORDER; HUMANS; MOLECULAR SEQUENCE DATA; TRANSCRIPTION, GENETIC; UTROPHIN; ZEBRAFISH;

EID: 84856182369     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2011.865     Document Type: Article

References (49)

1. Tinsley JM, Blake DJ, Zuellig RA and Davies KE: Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci USA 91: 8307-8313, 1994. (Pubitemid 24273653)
2. Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D and Nudel U: A 71 kd protein is a major product of the Duchenne muscular dystrophy gene in brain and other non-muscle tissues. Proc Natl Acad Sci USA 89: 5346-5350, 1992.
3. Austin RC, Howard PL, D'Souza VN, Klamut HJ and Ray PN: Cloning and characterization of alternatively spliced isoforms of Dp71. Hum Mol Genet 4: 1475-1483, 1995.
4. Love DR, Hill DF, Dickson G, Spurr NK, Byth BC, Marsden RF, Walsh FS, Edwards YH and Davies KE: An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339: 55-58, 1989. (Pubitemid 19115891)
5. Tinsley JM, Blake DJ, Roche A, Fairbrother U, Riss J, Byth BC, Knight AE, Kendrick-Jones J, Suthers GK, Love DR, et al: Primary structure of dystrophin-related protein. Nature 360: 591-593, 1992. (Pubitemid 23000709)
6. Nudel U, Zuk D, Einat P, Zeelon E, Levy Z, Neuman S and Yaffe D: Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 337: 76-78, 1989. (Pubitemid 19022552)
7. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM and Kunkel LM: Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323: 646-650, 1986. (Pubitemid 16008561)
8. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener CA and Kunkel LM: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517, 1987. (Pubitemid 18098338)
9. Gorecki DC, Monaco AP, Derry JM, Walker AP, Barnard EA and Barnard PJ: Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1: 505-510, 1992.
10. Holder E, Maeda M and Bies RD: Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum Genet 97: 232-239, 1996. (Pubitemid 26034792)
11. D'Souza VN, Nguyen TM, Morris GE, Karges W, Pillers DA and Ray PN: A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 4: 837-842, 1995.
12. Lidov HGW, Selig S and Kunkel LM: Dp140: a novel 140 kDA CNS transcript from the dystrophin locus. Hum Mol Genet 4: 329-335, 1995
13. Byers TJ, Lidov HGW and Kunkel LM: An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 4: 77-81, 1993. (Pubitemid 23165918)
14. Burton EA, Tinsley JM, Holzfeind PJ, Rodrigues NR and Davies KE: A second promoter provides an alternative target for therapeutic upregulation of utrophin in Duchenne muscular dystrophy. Proc Natl Acad Sci USA 96: 14025-14030, 1999.
15. Zuellig RA, Bornhauser BC, Knuesel I, Heller F, Fritschy JM and Schaub MC: Identification and characterisation of transcript and protein of a new short N-terminal utrophin isoform. J Cell Biochem 77: 418-431, 2000. (Pubitemid 30230596)
16. Blake DJ, Schofield JN, Zuellig RA, Górecki DC, Phelps SR, Barnard EA, Edwards YH and Davies KE: G-utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain. Proc Natl Acad Sci USA 9: 3697-3701, 1995.
17. Wilson J, Putt W, Jimenez C and Edwards YH: Up71 and up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin. Hum Mol Genet 8: 1271-1278, 1999. (Pubitemid 29328996)
18. Jimenez-Mallebrera C, Davies K, Putt W and Edwards YH: A study of short utrophin isoforms in mice deficient for full-length utrophin. Mamm Genome 14: 47-60, 2003. (Pubitemid 36132585)
19. Matsumura K, Ervasti JM, Ohlendieck K, Kahl SD and Campbell KP: Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature 360: 588-591, 1992. (Pubitemid 23000708)
20. Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ, et al: The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature 334: 154-156, 1988.
21. Carpenter JL, Hoffman EP, Romanul FC, Kunkel LM, Rosales RK, Ma NS, Dasbach JJ, Rae JF, Moore FM, McAfee MB, et al: Feline muscular dystrophy with dystrophin deficiency. Am J Pathol 135: 909-919, 1989. (Pubitemid 20009501)
22. Hoffman EP, Brown RH Jr and Kunkel LM: Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928, 1987.
23. Pozzoli U, Elgar G, Cagliani R, Riva L, Comi GP, Bresolin N, Bardoni A and Sironi M: Comparative analysis of vertebrate dystrophin loci Indicate intron gigantism as a common feature. Genome Res 13: 764-772, 2003. (Pubitemid 36621736)
24. Bolaños-Jiménez F, Bordais A, Behra M, Strähle U, Mornet D, Sahel J and Rendón A: Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish. Gene 274: 217-226, 2001.
25. Bolaños-Jiménez F, Bordais A, Behra M, Strähle U, Sahel J and Rendón A: Dystrophin and Dp71, two products of the DMD gene, show a different pattern of expression during embryonic development in zebrafish. Mech Dev 102: 239-241, 2001.
26. Chambers SP, Dodd A, Overall R, Sirey T, Lam LT, Morris GE and Love DR: Dystrophin in adult zebrafish muscle. Biochem Biophys Res Commun 286: 478-483, 2001. (Pubitemid 32912971)
27. Kramarcy NR and Sealock R: Dystrophin as a focal adhesion protein. Collocalization with talin and the Mr 48,000 sarcolemmal protein in cultured Xenopus muscle. FEBS Lett 274: 171-174, 1990. (Pubitemid 20378148)
28. Wang J, Pansky A, Venuti JM, Yaffe D and Nudel U: A sea urchin gene encoding dystrophin-related proteins. Hum Mol Genet 7: 581-588, 1998. (Pubitemid 28152256)
29. Neuman S, Kaban A, Volk T, Yaffe D and Nudel U: The dystrophin/utrophin homologues in Drosophila and sea urchin. Gene 263: 17-29, 2001. (Pubitemid 32167050)
30. Vater R, Young C, Anderson LV, Lindsay S, Blake DJ, Davies KE, Zuellig R and Slater CR: Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction. Mol Cell Neurosci 10: 229-242, 1998.
31. Urasawa N, Wada MR, Machida N, Yuasa K, Shimatsu Y, Wakao Y, Yuasa S, Sano T, Nonaka I, Nakamura A, et al: Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71. Circulation 117: 2437-2448, 2008. (Pubitemid 351670450)
32. Manzur AY, Kinali M and Muntoni F: Update on the management of Duchenne muscular dystrophy. Arch Dis Child 93: 986-990, 2008.
33. Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG and Barnard PJ: The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244: 1578-1580, 1989. (Pubitemid 19189735)
34. Bassett DI and Currie PD: The zebrafish as a model for muscular dystrophy and congenital myopathy. Hum Mol Genet 12: 265-270, 2003.
35. Bassett DI, Bryson-Richardson RJ, Daggett DF, Gautier P, Keenan DG and Currie PD: Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo. Development 130: 5851-5860, 2003. (Pubitemid 37540857)
36. Dodd A, Chambers SP and Love DR: Short interfering RNA-mediated gene targeting in the zebrafish. FEBS Lett 561: 89-93, 2004. (Pubitemid 38317301)
37. Dodd A, Curtis PM, Williams LC and Love DR: Zebrafish: bridging the gap between development and disease. Hum Mol Genet 9: 2443-2449, 2000.
38. Guyon JR, Mosley AN, Zhou Y, O'Brien KF, Sheng X, Chiang K, Davidson AJ, Volinski JM, Zon LI and Kunkel LM: The dystrophin associated protein complex in zebrafish. Hum Mol Genet 12: 601-615, 2003. (Pubitemid 36378105)
39. Lan CC, Tang R, Un San Leong I and Love DR: Quantitative real-time RT-PCR (qRT-PCR) of zebrafish transcripts: optimization of RNA extraction, quality control considerations, and data analysis. Cold Spring Harb Protoc 2009: pdb.prot5314, 2009.
40. Tang R, Dodd A, Lai D, McNabb WC and Love DR: Validation of zebrafish (Danio rerio) reference genes for quantitative real-time RT-PCR normalization. Acta Biochim Biophys Sin (Shanghai) 39: 384-390, 2007. (Pubitemid 46792125)
41. Ramakers C, Ruijter JM, Deprez RH and Moorman AF: Assumption-free analysis of quantitative real-time PCR data. Neurosci Lett 339: 62-66, 2003. (Pubitemid 36263221)
42. Ruijter JM, Ramakers C, Hoogaars WM, Karlen Y, Bakker O, Van den Hoff MJ and Moorman AF: Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data. Nucleic Acids Res 37: e45, 2009.
43. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A and Speleman F: Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3: Research0034, 2002.
44. Guyon JR, Goswami J, Jun SJ, Thorne M, Howell M, Pusack T, Kawahara G, Steffen LS, Galdzicki M and Kunkel LM: Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet 18: 202-211, 2009.
45. Kane DA and Kimmel CB: The zebrafish midblastula transition. Development 119: 447-456, 1993. (Pubitemid 23293187)
46. Torelli S and Muntoni F: Alternative splicing of dystrophin exon 4 in normal human muscle. Hum Genet 97: 521-523, 1995. (Pubitemid 26081061)
47. Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R and Bresolin N: The dystrophin gene is alternatively spliced throughout its coding sequence. FEBS Lett 517: 163-166, 2002. (Pubitemid 34327651)
48. Lidov HG and Kunkel LM: Dp140: alternatively spliced isoforms in brain and kidney. Genomics 45: 132-139, 1997. (Pubitemid 27449392)
49. Ceccarini M, Rizzo G, Rosa G, Chelucci C, Macioce P and Petrucci TC: A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development. Brain Res Dev Brain Res 103: 77-82, 1997. (Pubitemid 27465712)