Literature DB >> 8401537

Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts.

R G Roberts1, D R Bentley, M Bobrow.   

Abstract

Ectopic (or "illegitimate") transcripts have recently become popular as a means of facilitating the study of transcripts normally considered to have a pattern of expression restricted to one or a few tissues. It has been generally assumed that the structure of an ectopic transcript faithfully represents that of its tissue-specific counterpart. We describe here the inclusion of a novel exon in 50% of ectopic dystrophin transcripts from human peripheral blood lymphocytes. The novel sequence resembles a conserved region in the 3' untranslated region of members of the carcinoembryonic antigen gene family and lies within the first intron of the human dystrophin gene. This constitutes a significant departure from the expected in vivo splicing behaviour in an ectopic transcript and suggests that there may be exceptions to the assumption that ectopic transcripts are processed in a similar way to their tissue-specific counterparts.

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Year:  1993        PMID: 8401537     DOI: 10.1002/humu.1380020409

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  12 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.  Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.

Authors:  Atsushi Nishida; Maki Minegishi; Atsuko Takeuchi; Hiroyuki Awano; Emma Tabe Eko Niba; Masafumi Matsuo
Journal:  Hum Genet       Date:  2015-07-08       Impact factor: 4.132

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

Authors:  Van Khanh Tran; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2005-08-30       Impact factor: 3.172

Review 4.  Normal and altered pre-mRNA processing in the DMD gene.

Authors:  Sylvie Tuffery-Giraud; Julie Miro; Michel Koenig; Mireille Claustres
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132

5.  Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Authors:  Yan Wang; Yao Yang; Jing Liu; Xiao-Chun Chen; Xin Liu; Chun-Zhi Wang; Xi-Yu He
Journal:  Mol Genet Genomics       Date:  2014-04-27       Impact factor: 3.291

6.  Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain.

Authors:  E Holder; M Maeda; R D Bies
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

7.  Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Authors:  Anne-Laure Bougé; Eva Murauer; Emmanuelle Beyne; Julie Miro; Jessica Varilh; Magali Taulan; Michel Koenig; Mireille Claustres; Sylvie Tuffery-Giraud
Journal:  Sci Rep       Date:  2017-01-03       Impact factor: 4.379

8.  DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.

Authors:  Emma Tabe Eko Niba; Ryo Yamanaka; Abdul Qawee Mahyoob Rani; Hiroyuki Awano; Masaaki Matsumoto; Hisahide Nishio; Masafumi Matsuo
Journal:  Cancer Cell Int       Date:  2017-05-23       Impact factor: 5.722

9.  Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Authors:  Emmanuelle Massouridès; Jérôme Polentes; Philippe-Emmanuel Mangeot; Virginie Mournetas; Juliette Nectoux; Nathalie Deburgrave; Patrick Nusbaum; France Leturcq; Linda Popplewell; George Dickson; Nicolas Wein; Kevin M Flanigan; Marc Peschanski; Jamel Chelly; Christian Pinset
Journal:  Skelet Muscle       Date:  2015-11-14       Impact factor: 4.912

10.  Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Authors:  Nina Borràs; Gerard Orriols; Javier Batlle; Almudena Pérez-Rodríguez; Teresa Fidalgo; Patricia Martinho; María Fernanda López-Fernández; Ángela Rodríguez-Trillo; Esther Lourés; Rafael Parra; Carme Altisent; Ana Rosa Cid; Santiago Bonanad; Noelia Cabrera; Andrés Moret; María Eva Mingot-Castellano; Nira Navarro; Rocío Pérez-Montes; Sally Marcellin; Ana Moreto; Sonia Herrero; Inmaculada Soto; Núria Fernández-Mosteirín; Víctor Jiménez-Yuste; Nieves Alonso; Aurora de Andrés-Jacob; Emilia Fontanes; Rosa Campos; María José Paloma; Nuria Bermejo; Ruben Berrueco; José Mateo; Karmele Arribalzaga; Pascual Marco; Ángeles Palomo; Nerea Castro Quismondo; Belén Iñigo; María Del Mar Nieto; Rosa Vidal; María Paz Martínez; Reyes Aguinaco; Jesús María Tenorio; María Ferreiro; Javier García-Frade; Ana María Rodríguez-Huerta; Jorge Cuesta; Ramón Rodríguez-González; Faustino García-Candel; Manuela Dobón; Carlos Aguilar; Francisco Vidal; Irene Corrales
Journal:  Haematologica       Date:  2018-10-25       Impact factor: 9.941

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