Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Górecki, D. C.
Right arrow Articles by Barnard, P. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Górecki, D. C.
Right arrow Articles by Barnard, P. J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1992 Oxford University Press

RESEARCH-ARTICLE

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

Dariusz C. Górecki+, Anthony P. Monaco1, Jonathan M. J. Derry§, Ann P. Walker1, Eric A. Barnard and Pene J. Barnard*

MRC Molecular Neurobiology Unit, University of Cambridge Medical School Hills Road, Cambridge CB2 2QH 1Imperial Cancer Research Fund Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU, UK

*To whom correspondence should be addressed at present address: Molecular Neurobiology Unit, Royal Free Hospital School of Medicine, Rowland Hill Street, London NW3 2PF, UK

Received July 7, 1992; Revised August 24, 1992; Accepted August 24, 1992

Cognitive impairment occurs in one-third of patients with Duchenne muscular dystrophy, a lethal X-linked, recessive disease caused by mutations in the dystrophin gene which is expressed in both brain and muscle, the two transcripts having alternative first exons. Previous reports have indicated that the ‘brain-type’ dystrophin transcript predominates in brain. Using in situ hybridisation with antisense oligonucleotides, expression of four distinct mRNAs in specific brain areas is demonstrated here; the 14 kb muscle-type and brain-type transcripts were found to coexist in cortical and hippocampal neurons and two new transcripts have been identified in dentate gyrus and cerebellar Purkinje neurons, respectively. The latter has a novel first exon which was isolated and sequenced from mouse and human, and which would encode a protein with a different amino-terminus from the known muscle- and brain-type isoforms. Mapping in human located this exon in a large intron between the muscle-type promoter and second exon of the dystrophin gene. This finding of four alternative transcripts regulated by different promoters in brain reveals a new complexity to dystrophin expression that may have important insights for mental retardation mechanisms.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J Child NeurolHome page
S. Kimura, M. Ikezawa, S. Ozasa, K. Ito, H. Ueno, K. Yoshioka, S. Ijiri, K. Nomura, K. Nakamura, M. Matuskura, et al.
Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy
J Child Neurol, July 1, 2007; 22(7): 901 - 906.
[Abstract] [PDF]

Home page
 J. Cell Sci.Home page
T. Yokota, Q.-L. Lu, J. E. Morgan, K. E. Davies, R. Fisher, S. Takeda, and T. A. Partridge
Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration
J. Cell Sci., July 1, 2006; 119(13): 2679 - 2687.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
J. V. Chakkalakal, J. Thompson, R. J. Parks, and B. J. Jasmin
Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies
FASEB J, June 1, 2005; 19(8): 880 - 891.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. B. de Leon, C. Montanez, P. Gomez, S. L. Morales-Lazaro, V. Tapia-Ramirez, V. Valadez-Graham, F. Recillas-Targa, D. Yaffe, U. Nudel, and B. Cisneros
Dystrophin Dp71 Expression Is Down-regulated during Myogenesis: ROLE OF Sp1 AND Sp3 ON THE Dp71 PROMOTER ACTIVITY
J. Biol. Chem., February 18, 2005; 280(7): 5290 - 5299.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
Y. De Repentigny, P. Marshall, R. G. Worton, and R. Kothary
The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice
Hum. Mol. Genet., November 15, 2004; 13(22): 2853 - 2862.
[Abstract] [Full Text] [PDF]

Home page
 Arch Gen PsychiatryHome page
C. S. Weickert, R. E. Straub, B. W. McClintock, M. Matsumoto, R. Hashimoto, T. M. Hyde, M. M. Herman, D. R. Weinberger, and J. E. Kleinman
Human Dysbindin (DTNBP1) Gene Expression in Normal Brain and in Schizophrenic Prefrontal Cortex and Midbrain
Arch Gen Psychiatry, June 1, 2004; 61(6): 544 - 555.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
U. Pozzoli, G. Elgar, R. Cagliani, L. Riva, G. P. Comi, N. Bresolin, A. Bardoni, and M. Sironi
Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature
Genome Res., May 1, 2003; 13(5): 764 - 772.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. R. Guyon, A. N. Mosley, Y. Zhou, K. F. O'Brien, X. Sheng, K. Chiang, A. J. Davidson, J. M. Volinski, L. I. Zon, and L. M. Kunkel
The dystrophin associated protein complex in zebrafish
Hum. Mol. Genet., March 15, 2003; 12(6): 601 - 615.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
D. J. Blake, A. Weir, S. E. Newey, and K. E. Davies
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle
Physiol Rev, April 1, 2002; 82(2): 291 - 329.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Bastianutto, J. A. Bestard, K. Lahnakoski, D. Broere, M. De Visser, M. Zaccolo, T. Pozzan, A. Ferlini, F. Muntoni, T. Patarnello, et al.
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy
Hum. Mol. Genet., November 1, 2001; 10(23): 2627 - 2635.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
A. FRIGERI, G. P. NICCHIA, B. NICO, F. QUONDAMATTEO, R. HERKEN, L. RONCALI, and M. SVELTO
Aquaporin-4 deficiency in skeletal muscle and brain of dystrophic mdx mice
FASEB J, January 1, 2001; 15(1): 90 - 98.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
G. Felisari, F. M. Boneschi, A. Bardoni, M. Sironi, G. P. Comi, M. Robotti, A. C. Turconi, M. Lai, G. Corrao, and N. Bresolin
Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy
Neurology, August 22, 2000; 55(4): 559 - 564.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
E. A. Burton, J. M. Tinsley, P. J. Holzfeind, N. R. Rodrigues, and K. E. Davies
A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy
PNAS, November 23, 1999; 96(24): 14025 - 14030.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
P. J. Holzfeind, H. J. Ambrose, S. E. Newey, R. A. Nawrotzki, D. J. Blake, and K. E. Davies
Tissue-selective Expression of alpha -Dystrobrevin Is Determined by Multiple Promoters
J. Biol. Chem., March 5, 1999; 274(10): 6250 - 6258.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
S. Kimura, S. Fujishita, M. Ikezawa, M. Ogawa, K. Abe, and T. Miike
Muscle Type Promoter and Its First Intron Abnormalities in Dystrophin Gene in Patients With Duchenne Muscular Dystrophy
J Child Neurol, June 1, 1998; 13(6): 290 - 292.
[PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. J. Blake, R. Nawrotzki, N. Y. Loh, D. C. Gorecki, and K. E. Davies
beta -dystrobrevin, a member of the dystrophin-related protein family
PNAS, January 6, 1998; 95(1): 241 - 246.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
R. Ortiz-Lopez, H. Li, J. Su, V. Goytia, and J. A. Towbin
Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy
Circulation, May 20, 1997; 95(10): 2434 - 2440.
[Abstract] [Full Text]

Home page
 J. Neurosci.Home page
M. L. Oster-Granite, D. L. McPhie, J. Greenan, and R. L. Neve
Age-Dependent Neuronal and Synaptic Degeneration in Mice Transgenic for the C Terminus of the Amyloid Precursor Protein
J. Neurosci., November 1, 1996; 16(21): 6732 - 6741.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. E. Adams, T. M. Dwyer, L. L. Dowler, R. A. White, and S. C. Froehner
Mouse alpha1- and beta2-Syntrophin Gene Structure, Chromosome Localization, and Homology with a Discs Large Domain
J. Biol. Chem., October 27, 1995; 270(43): 25859 - 25865.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
P. Marshall, N. Chartrand, and R. G. Worton
The Mouse Dystrophin Enhancer Is Regulated by MyoD, E-box-binding Factors, and by the Serum Response Factor
J. Biol. Chem., June 1, 2001; 276(23): 20719 - 20726.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.