Muscle Type Promoter and Its First Intron Abnormalities in Dystrophin Gene in Patients With Duchenne Muscular Dystrophy

Abstract

Get full access to this article

View all access options for this article.

References

Hoffman EP , Brown Rhj , Kunkel LM : Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.

Koenig M. , Hoffman EP , Bertelson CJ , et al: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.

Gillard EF , Chamberlain JS , Murphy EG , et al: Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of Duchenne muscular dystrophy (DMD) gene . Am J Hum Genet 1989;45:368-372.

Forrest SM , Cross GS , Flint T. , et al: Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 1988;2:109-114.

Lindlof M. , Kiuru A. , Kaariainen H. , et al: Gene deletion in X-linked muscular dystrophy. Am J Hum Genet 1989;44:397-401.

Prior TW , Papp AC , Snyder PJ , et al: A missense mutation in the dystrophin gene in Duchenne muscular dystrophy patient. Nat Gen 1993; 4:357-360.

Chamberlain JS , Gibbs RA , Ranier JE , et al: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucl Acids Res 1990;16:11,141-11,156.

Beggs AH , Koenig M. , Boyce FM , et al: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-48.

Kondoh T. , Fujishita S. , Shibuya N. , et al: Different muscle-specific promoter characteristics in two sibs with Duchenne muscular dystrophy. J Med Genet 1995;32:325-328.

10.

Klamut HJ , Gangopadhyay SB , Worton RG , et al: Molecular and functional analysis of muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol 1990;10:193-205.

11.

Oudet C. , Heilig R. , Hanauer A. , et al: Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination . Am J Hum Genet 1991; 49:311-319.

12.

Boyce FM , Beggs AH , Feener C. , et al: Dystrophin is transcribed in brain from a distant upstream promoter . Proc Natl Acad Sci USA 1991; 88:1276-1280.

13.

Gorecki DC , Monaco AP , Derry Jmj , et al: Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1992;1:505-510.

14.

Muntoni F. , Antonietta M. , Ganau A. , et al: Transcription of the dystrophin gene in normal tissues and skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 1995;56:151-157.

15.

Gilgenkrantz H. , Hugnot J-P. , Lambert M. , et al: Positive and negative regulatory DNA elements including a CCarGG box are involved in the cell type-specific expression of the human muscle dystrophin gene. J Biol Chem 1992;267:10,823-10,830.

16.

Pari G. , Jardine K. , McBurnney MW : Multiple CarG boxes in the human cardiac actin gene promoter required for expression in embryonic cardiac muscle cells developing in vitro from embryonal carcinoma cells. Mol Cell Biol 1991 ;11:4796-4803.

17.

Sartorelli V. , Hong NA , Bishopric NH , et al: Myocardial activation of the human cardiac α-actin promoter helix-loop-helix proteins. Proc Natl Acad Sci USA 1992;4:4047-4051.

18.

Nakatsuji Y. , Hidaka K. , Tsujino S. , et al: A single MEF-2 site is a major positive regulatory element required for transcription of the muscle-specific subunit of the human phosphoglycerate mutase gene in skeletal and cardiac muscle cells . Mol Cell Biol 1992 ;12:4384-4390.

19.

Navankasattusas S. , Zhu H. , Garcia AV , et al: A ubiquitous factor (Hf-1a) and a distinct muscle factor (Hf-1b/MEF-2) form an E-box-independent pathway for cardiac muscle gene expression. Mol Cell Biol 1992;12:1469-1479.

20.

Gosset LA , Kelvin DJ , Sternberg EA , et al: A new myocyte-specific enhancer-binding factor that recognizes a conserved element associated with multiple muscle-specific genes. Mol Cell Biol 1989; 9:5022-5033.

21.

Buskin JN , Hauschka SD : Identification of a myocyte nuclear factor that binds to the muscle-specific enhancer of the mouse muscle creatine kinase gene. Mol Cell Biol 1989;9:2627-2640.

22.

Klamut HJ , Bosnoyan-Collins LO , Worton RG , et al: Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene. Hum Mol Genet 1996;5:1599-1606.

23.

Sternberg EA , Spizz G. , Perry WM , et al: Identification of upstream and intragenic regulatory elements that confer cell-type restricted and differentiation-specific expression on the muscle creatine kinase gene . Mol Cel Biol 1988;8:2896-2909.

24.

Kimura S. , Abe K. , Suzuki M. , et al: A 900 bp genomic region from the mouse dystrophin promoter directs LacZ reporter expression only to the right heart of transgenic mice. Dev Growth Different 1997; 39:257-265.