Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon

Solyom, Szilvia, Ewing, Adam D., Hancks, Dustin C., Takeshima, Yasuhiro, Awano, Hiroyuki, Matsuo, Masafumi and Kazazian, Haig H., Jr. (2012) Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. Human Mutation, 33 2: 369-371. doi:10.1002/humu.21663

Author Solyom, Szilvia
Ewing, Adam D.
Hancks, Dustin C.
Takeshima, Yasuhiro
Awano, Hiroyuki
Matsuo, Masafumi
Kazazian, Haig H., Jr.
Title Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2012-01
Sub-type Article (original research)
DOI 10.1002/humu.21663
Open Access Status Not Open Access
Volume 33
Issue 2
Start page 369
End page 371
Total pages 3
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
Long INterspersed Element-1 (LINE-1) retrotransposons comprise 17% of the human genome, and move by a potentially mutagenic “copy and paste” mechanism via an RNA intermediate. Recently, the retrotransposition-mediated insertion of a new transcript was described as a novel cause of genetic disease, Duchenne muscular dystrophy, in a Japanese male. The inserted sequence was presumed to derive from a single-copy, noncoding RNA transcribed from chromosome 11q22.3 that retrotransposed into the dystrophin gene. Here, we demonstrate that a nonreference full-length LINE-1 is situated in the proband and maternal genome at chromosome 11q22.3, directly upstream of the sequence, whose copy was inserted into the dystrophin gene. This LINE-1 is highly active in a cell culture assay. LINE-1 insertions are often associated with 3′ transduction of adjacent genomic sequences. Thus, the likely explanation for the mutagenic insertion is a LINE-1-mediated 3′ transduction with severe 5′ truncation. This is the first example of LINE-1-induced human disease caused by an “orphan” 3′ transduction. Hum Mutat 33:369–371, 2012.
Keyword 3'transduction
Duchenne muscular dystrophy
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Mater Research Institute-UQ (MRI-UQ)
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Citation counts: TR Web of Science Citation Count  Cited 15 times in Thomson Reuters Web of Science Article | Citations
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