期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 12, 页码 785-790出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.111
关键词
Duchenne muscular dystrophy; dystrophin; exon-skipping; non-coding gene; retrotransposon
资金
- Japan Society for the Promotion of Science
- Health and Labour Sciences Research Grant for Research on Psychiatric and Neurological Diseases and Mental Health
- Ministry of Health, Labour and Welfare
Non-autonomous retrotransposon-mediated mobilizations of the Alu family are known pathogenic mechanisms of human disease. Here, we report a pathogenic, contemporary, non-autonomous retrotransmobilization of part of a novel non-coding gene into the dystrophin gene. In a Japanese Duchenne muscular dystrophy patient, a 330-bp-long de novo insertion was identified in exon 67 of dystrophin. The insertion induced exon 67-skipping in the dystrophin mRNA, creating a premature stop codon. The sequence of the insertion had certain characteristics of retrotransposons: an antisense polyadenylation signal accompanied by a poly(T) sequence and a target site duplication. The insertion site matched the consensus recognition sequence for the L1 endonuclease, indicating a retrotransposon-mediated event, although the inserted sequence did not match any known retrotransposons. The origin of the inserted sequence was mapped to a gene-poor region of chromosome 11. The inserted fragment was expressed in multiple human tissue RNAs, indicating that it is a novel transcript. The full length of the transcript was cloned and showed no meaningful protein coding ability. Journal of Human Genetics (2010) 55, 785-790; doi:10.1038/jhg.2010.111; published online 9 September 2010
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