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Identification and characterization of a novel human dysferlin transcript: dysferlin_v1

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Abstract

Mutations in the dysferlin (DYSF) gene are associated with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. In this study, we report the identification and characterization of a novel dysferlin transcript that we named DYSF_v1 (GenBank accession: DQ267935). This transcript differs from the currently known dysferlin transcript (GenBank accession: AF075575) in the sequence of the entire first exon which spans 232 bases. This unique first exon is derived from intron 1 of DYSF, and has an immediate upstream 5′ untranslated region containing CpG islands and sequences consistent with transcription factor binding sites. Exon 1 of DYSF_v1 shares 85% sequence homology and has similar genomic organization with the first exon of mouse dysferlin. Northern blot analysis showed that the DYSF_v1 transcript spans 7.5 kb and is expressed in human skeletal muscle, heart, placenta, brain, spleen, kidney, intestine, and lung tissues. DYSF_v1 retains phylogenic conservancy and shows similar expression pattern as the currently known human dysferlin.

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Acknowledgements

We wish to thank Dr Mac MF Ho for useful advice. We also thank Dr Katsutoshi Yuasa and Lim Chui Chin for their assistance in Northern blot analysis. This work was supported by grant funding NMRC/0607/2001 from the National Medical Research Council, Singapore.

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Authors and Affiliations

  1. Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore

    Zacharias Aloysius Dwi Pramono, Chin Lai Tan & Woon Chee Yee

  2. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore

    Poh San Lai

  3. Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan

    Shin’ichi Takeda

  4. Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore

    Woon Chee Yee

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  1. Zacharias Aloysius Dwi Pramono
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  2. Poh San Lai
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  3. Chin Lai Tan
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Correspondence to Zacharias Aloysius Dwi Pramono.

Additional information

GenBank accession number of dysferlin_v1 is DQ267935

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Pramono, Z.A.D., Lai, P.S., Tan, C.L. et al. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. Hum Genet 120, 410–419 (2006). https://doi.org/10.1007/s00439-006-0230-1

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  • DOI: https://doi.org/10.1007/s00439-006-0230-1

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