Alternative Splicing of Dystrophin Exon 4 in Normal Human Muscle

Overview

Journal Hum Genet

Specialty Genetics

Date 1996 Apr 1

PMID 8834255

Citations 4

Authors

S Torelli

F Muntoni

Affiliations

Soon will be listed here.

Abstract

The dystrophin gene is composed of at least 86 exons and the occurrence of several alternative splicing sites, mainly occurring in its 3' region, is a well recognised phenomenon. We have found that exon 4 can also be alternatively spliced in human skeletal and cardiac muscle.

Citing Articles

Normal and altered pre-mRNA processing in the DMD gene.

Tuffery-Giraud S, Miro J, Koenig M, Claustres M Hum Genet. 2017; 136(9):1155-1172.

PMID: 28597072 DOI: 10.1007/s00439-017-1820-9.

Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.

Nishida A, Minegishi M, Takeuchi A, Awano H, Niba E, Matsuo M Hum Genet. 2015; 134(9):993-1001.

PMID: 26152642 DOI: 10.1007/s00439-015-1581-2.

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.

Zhang Z, Habara Y, Nishiyama A, Oyazato Y, Yagi M, Takeshima Y J Hum Genet. 2007; 52(7):607-617.

PMID: 17579806 DOI: 10.1007/s10038-007-0163-0.

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

Tran V, Zhang Z, Yagi M, Nishiyama A, Habara Y, Takeshima Y J Hum Genet. 2005; 50(8):425-433.

PMID: 16133659 DOI: 10.1007/s10038-005-0272-6.

References

Koenig M, Beggs A, Moyer M, Scherpf S, Heindrich K, Bettecken T . The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989; 45(4):498-506. PMC: 1683519. View

Dunckley M, Wells D, Walsh F, Dickson G . Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo. Hum Mol Genet. 1993; 2(6):717-23. DOI: 10.1093/hmg/2.6.717. View

Rafael J, Sunada Y, COLE N, Campbell K, Faulkner J, Chamberlain J . Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum Mol Genet. 1994; 3(10):1725-33. DOI: 10.1093/hmg/3.10.1725. View

Feener C, Koenig M, Kunkel L . Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989; 338(6215):509-11. DOI: 10.1038/338509a0. View

Monaco A, Bertelson C, Moser H, Kunkel L . An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988; 2(1):90-5. DOI: 10.1016/0888-7543(88)90113-9. View

Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu S . Deletions in the 5' region of dystrophin and resulting phenotypes. J Med Genet. 1994; 31(11):843-7. PMC: 1016656. DOI: 10.1136/jmg.31.11.843. View

Levine B, Moir A, Patchell V, PERRY S . Binding sites involved in the interaction of actin with the N-terminal region of dystrophin. FEBS Lett. 1992; 298(1):44-8. DOI: 10.1016/0014-5793(92)80019-d. View

Muntoni F, Melis M, Ganau A, Dubowitz V . Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1995; 56(1):151-7. PMC: 1801315. View

Bies R, Phelps S, Cortez M, Roberts R, Caskey C, Chamberlain J . Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res. 1992; 20(7):1725-31. PMC: 312263. DOI: 10.1093/nar/20.7.1725. View

10.

Gangopadhyay S, Sherratt T, Heckmatt J, Dubowitz V, Miller G, Shokeir M . Dystrophin in frameshift deletion patients with Becker muscular dystrophy. Am J Hum Genet. 1992; 51(3):562-70. PMC: 1682710. View

11.

England S, Nicholson L, Johnson M, Forrest S, Love D, Bulman D . Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 1990; 343(6254):180-2. DOI: 10.1038/343180a0. View

12.

Malhotra S, Hart K, Klamut H, Thomas N, Bodrug S, Burghes A . Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 1988; 242(4879):755-9. DOI: 10.1126/science.3055295. View

13.

Bloom T . Muscular dystrophy. Brain, as well as brawn?. Curr Biol. 1995; 5(4):338-41. DOI: 10.1016/s0960-9822(95)00066-2. View

14.

Winnard A, Klein C, Coovert D, Prior T, Papp A, Snyder P . Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet. 1993; 2(6):737-44. DOI: 10.1093/hmg/2.6.737. View

15.

Ahn A, Kunkel L . The structural and functional diversity of dystrophin. Nat Genet. 1993; 3(4):283-91. DOI: 10.1038/ng0493-283. View

16.

Chomczynski P, Sacchi N . Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 1987; 162(1):156-9. DOI: 10.1006/abio.1987.9999. View

17.

Levine B, Moir A, Patchell V, PERRY S . The interaction of actin with dystrophin. FEBS Lett. 1990; 263(1):159-62. DOI: 10.1016/0014-5793(90)80728-2. View

18.

Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D . Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell. 1990; 63(6):1239-48. DOI: 10.1016/0092-8674(90)90419-f. View