The lacZ gene under the control of the 7 kb of human dystrophin muscle specific promoter is expressed in cardiac muscle but not in adult skeletal muscle in transgenic mice

Ogawa, Mamoru; Kaname, Tadasi; Kimura, Shigemi; Kawasaki, Ikuyo; Nomura, Keiko; Suzuki, Misao; Miike, Teruhisa; Yamamura, Ken Ichi

doi:10.1016/s0960-8966(00)00186-3

Cited by 6 publications

(2 citation statements)

References 30 publications

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“…Other regulatory regions have been characterized [13][14][15][16][17][18] as having a role in enhancing gene expression often in a tissue specific way.…”

Section: The Dystrophin Gene and Protein: Structure Architecture Andmentioning

confidence: 99%

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice

Ferlini

Neri

Gualandi

2013

Neuromuscular Disorders

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A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies, diseases affecting predominantly the striated muscles (skeletal and cardiac). Rare mutations also account for the allelic disorder isolated X-linked dilated cardiomyopathy. Dystrophin protein is encoded by a huge gene located on the X chromosome and the understanding of its complex genomic architecture has unraveled general key functions in gene expression regulation. Dystrophin also exists as a number of other tissue specific isoforms, some exclusively or predominantly expressed in the brain and/or in other tissues. Genotype definition of the dystrophin gene in patients with dystrophinopathies has taught us much about functionally important domains of the protein itself and has also provided insights regarding several regulatory mechanisms governing the gene expression profile. This review focuses on the current understanding of the dystrophin mutations heterogeneity, genotype-phenotype correlations, as well as interpretation of the functional significance of mutations that often require non routine genetic studies. It also explores the impact of genetic diagnosis on clinical definition and on the discovery of biomarkers and personalized therapies. Our aim is to offer an overview of the medical genetic approach on the dystrophin gene and dystrophinopathies with implications for clinical practice and therapeutic perspectives.

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“…Other regulatory regions have been characterized [13][14][15][16][17][18] as having a role in enhancing gene expression often in a tissue specific way.…”

Section: The Dystrophin Gene and Protein: Structure Architecture Andmentioning

confidence: 99%

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice

Ferlini

Neri

Gualandi

2013

Neuromuscular Disorders

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“…2 The various dystrophin isoforms expressed in skeletal muscle, cardiac muscle, smooth muscle, brain, and so on, are regulated by means of a complex mechanism involving several promoters and at least 1 enhancer. [3][4][5] Of the 8 different promoters identified to date, only 3 (the brain, 6 Brief Communication One cause of X-linked dilated cardiomyopathies is mutation of the dystrophin gene. We report the case of a young boy who suffered from dilated cardiomyopathy caused only by dystrophin-deficient cardiac muscle, but who did not present with any clinical signs of skeletal myopathy.…”

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confidence: 99%

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

et al. 2007

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One cause of X-linked dilated cardiomyopathies is mutation of the dystrophin gene. We report the case of a young boy who suffered from dilated cardiomyopathy caused only by dystrophin-deficient cardiac muscle, but who did not present with any clinical signs of skeletal myopathy. Sequence analysis of the patient's dystrophin gene revealed the presence of a novel single point mutation at the first exon-intron boundary, inactivating the 5' splice site consensus sequence of the first intron. The lack of muscle weakness observed clinically can be explained by expression of the brain and Purkinje dystrophin isoforms in skeletal muscle.

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A Novel Muscle-Specific Enhancer Identified within the Deletion Overlap Region of Two XLDC Patients Lacking Muscle Exon 1 of the Human Dystrophin Gene

et al. 2002

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The lacZ gene under the control of the 7 kb of human dystrophin muscle specific promoter is expressed in cardiac muscle but not in adult skeletal muscle in transgenic mice

Cited by 6 publications

References 30 publications

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

A Novel Muscle-Specific Enhancer Identified within the Deletion Overlap Region of Two XLDC Patients Lacking Muscle Exon 1 of the Human Dystrophin Gene

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