Literature DB >> 8281151

A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene.

D Lederfein1, D Yaffe, U Nudel.   

Abstract

The 70.8 kDa protein product of the distal part of the giant Duchenne muscular dystrophy (DMD) gene, Dp71, is expressed in many cell types and tissues. Anchored PCR, primer extension and functional analysis of transfected constructs were used to determine the 5' end of the mRNA and characterize the promoter of this major DMD gene product. The 5' untranslated region (5'UTR) of Dp71 is transcribed from a single exon; the promoter does not contain a TATA box, and has a very high GC content and several potential Sp1 binding sites. It is located more than 2000 kb 3' to the muscle and brain type dystrophin promoters and only 150 kb from the 3' end of the gene, suggesting that in most DMD patients the expression of Dp71 is unaffected.

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Year:  1993        PMID: 8281151     DOI: 10.1093/hmg/2.11.1883

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  19 in total

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

Authors:  Zhujun Zhang; Yasuaki Habara; Atsushi Nishiyama; Yoshinobu Oyazato; Mariko Yagi; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2007-06-20       Impact factor: 3.172

2.  Dystrophin Dp71 is critical for stability of the DAPs in the nucleus of PC12 cells.

Authors:  Marcela Villarreal-Silva; Rocío Suárez-Sánchez; Rafael Rodríguez-Muñoz; Dominique Mornet; Bulmaro Cisneros
Journal:  Neurochem Res       Date:  2009-09-27       Impact factor: 3.996

3.  Stability of the human dystrophin transcript in muscle.

Authors:  C N Tennyson; Q Shi; R G Worton
Journal:  Nucleic Acids Res       Date:  1996-08-01       Impact factor: 16.971

4.  A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs.

Authors:  H J Klamut; L O Bosnoyan-Collins; R G Worton; P N Ray
Journal:  Nucleic Acids Res       Date:  1997-04-15       Impact factor: 16.971

5.  HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.

Authors:  Atsushi Nishida; Sato Yasuno; Atsuko Takeuchi; Hiroyuki Awano; Tomoko Lee; Emma Tabe Eko Niba; Takahiro Fujimoto; Kyoko Itoh; Yasuhiro Takeshima; Hisahide Nishio; Masafumi Matsuo
Journal:  Histochem Cell Biol       Date:  2016-04-25       Impact factor: 4.304

Review 6.  The dystrophin superfamily: variability and complexity.

Authors:  E Fabbrizio; F Pons; A Robert; G Hugon; A Bonet-Kerrache; D Mornet
Journal:  J Muscle Res Cell Motil       Date:  1994-12       Impact factor: 2.698

7.  The cysteine-rich and C-terminal domains of dystrophin are not required for normal costameric localization in the mouse.

Authors:  M K Maconochie; A H Simpkins; E Damien; G Coulton; A J Greenfield; S D Brown
Journal:  Transgenic Res       Date:  1996-03       Impact factor: 2.788

8.  Molecular and functional analysis of the utrophin promoter.

Authors:  C L Dennis; J M Tinsley; A E Deconinck; K E Davies
Journal:  Nucleic Acids Res       Date:  1996-05-01       Impact factor: 16.971

9.  Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.

Authors:  H Nishio; Y Takeshima; N Narita; H Yanagawa; Y Suzuki; Y Ishikawa; Y Ishikawa; R Minami; H Nakamura; M Matsuo
Journal:  J Clin Invest       Date:  1994-09       Impact factor: 14.808

10.  Constitutively activated dystrophic muscle fibroblasts show a paradoxical response to TGF-beta and CTGF/CCN2.

Authors:  Valeria Mezzano; Daniel Cabrera; Cecilia Vial; Enrique Brandan
Journal:  J Cell Commun Signal       Date:  2008-04-15       Impact factor: 5.782

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