A Novel Cryptic Exon in Intron 2 of the Human Dystrophin Gene Evolved from an Intron by Acquiring Consensus Sequences for Splicing at Different Stages of Anthropoid Evolution

Pramono, Zacharias Aloysius Dwi; Takeshima, Yasuhiro; Surono, Agus; Ishida, Takafumi; Matsuo, Masafumi

doi:10.1006/bbrc.1999.1962

Cited by 17 publications

(15 citation statements)

References 29 publications

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“…2). Other cryptic exons have been identified in introns 11, 2, and 3 (Ferlini and Muntoni 1998;Dwi Pramono et al 2000;Suminaga et al 2002). It is possible that additional examples of cryptic exons will be uncovered within the unusually huge introns of the dystrophin gene.…”

Section: Discussionmentioning

confidence: 99%

“…An alternative promoter identified within the largest intron, the 250-kb intron 44, regulates the expression of a tissue-specific dystrophin isoform, and this isoform has been suggested to be required for normal intellectual development Felisari et al 2000). In contrast, the second largest intron, the 170-kb-long intron 2, has been shown to contain a cryptic exon, exon 2a, in its 5¢ region, but the physiological role of exon 2a is still unknown (Dwi Pramono et al 2000). Recently, a part of the 5¢ region of intron 2 was shown to be incorporated into dystrophin mRNA due to an activating mutation in the splice donor site of an embedded weak exon (exon p2a) .…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2005

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The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), is the largest known human gene and is characterized by the huge size of its introns. Intron 2, the second largest intron, is 170-kb long and has been shown to include a 140-bp cryptic exon (exon 2a) in its 5¢ region. The rest of this intron has no known function. In this study, we find that another cryptic exon, located in the 3¢ region of intron 2, is activated in a promoter-or tissue-specific manner. An unknown 98-bp insertion precisely between exons 2 and 3 was identified in one of the dystrophin mRNAs from lymphocytes of a DMD patient with a duplication of exon 2. This 98-bp sequence, located in the 3¢ region of intron 2, was found to possess a branch point, acceptor and donor splice-site consensus sequences, and an exonic splicing enhancer sequence, and thus is a novel exon, which we named ''exon 2b.'' In lymphocytes, exon 2b incorporation was detected in the muscle-specific, promoter-driven transcript. Five of 20 normal human tissue mRNAs, including cardiac and skeletal muscle mRNAs, were confirmed to contain a fragment extending from exon 1 to exon 2b by reverse transcription PCR amplification, indicating that exon 2b is activated in a tissue-specific manner. This provides a clue to a novel cause of dystrophinopathy.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2005

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“…(A. Ahn & Kunkel, 1993;Black, 2003;Dwi Pramono et al, 2000;Muntoni et al, 2003;Nishio et al, 1994;L. Song et al, 2003;V.…”

Section: Non-coding Sequences Of Genome Sequences and The Miracle Simentioning

confidence: 99%

“…99% of the dystrophin gene sequences are present in introns. The human dystrophin gene locates at locus Xp21.2, and is mutated in patients with Duchenne and Becker muscular dystrophies (Dwi Pramono et al, 2000;Golubovsky & Manton, 2005;Koenig et al, 1987Koenig et al, , 1988Nishio et al, 1994;Roberts, 2001;V. Tran et al, 2005;Zhang et al, 2007).…”

Section: Human Gene's Exons Are Separated By Intronsmentioning

confidence: 99%

Gene Therapy of Some Genetic Diseases by Transferring Normal Human Genomic DNA into Somatic Cells and Stem Cells from Patients

Song¹

2011

Non-Viral Gene Therapy

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“…PCR amplification of the genomic region encompassing exon 3a or exon 5 was performed essentially as described previously (Matsuo et al 1991) using primer sets of 5Ј-GCCTCCTGGGTTCAAG CAAT-3Ј (INT3-F), 5Ј-GCTAAAGCCATCTTACTCTC CAAGG-3Ј(INT3-R), 5Ј-CAACTAGGCATTTGGTC TC-3Ј (g5F), and 5Ј-TTGTTTCACACGTCAAGGG-3Ј (g5R), respectively. Genomic regions encompassing exons 3 and 4 were amplified as described earlier (Dwi Pramono et al 2000).…”

Section: Molecular Analysismentioning

confidence: 99%

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

et al. 2002

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A Novel Cryptic Exon in Intron 2 of the Human Dystrophin Gene Evolved from an Intron by Acquiring Consensus Sequences for Splicing at Different Stages of Anthropoid Evolution

Cited by 17 publications

References 29 publications

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

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

Gene Therapy of Some Genetic Diseases by Transferring Normal Human Genomic DNA into Somatic Cells and Stem Cells from Patients

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

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