Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
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- Awano Hiroyuki AWANO Hiroyuki
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- Malueka Rusdy Ghazali MALUEKA Rusdy Ghazali
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- Yagi Mariko [他] YAGI Mariko
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- OKIZUKA Yo
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- TAKESHIMA Yasuhiro
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- MATSUO Masafumi
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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Author(s)
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- Awano Hiroyuki AWANO Hiroyuki
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- Malueka Rusdy Ghazali MALUEKA Rusdy Ghazali
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- Yagi Mariko [他] YAGI Mariko
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- OKIZUKA Yo
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- TAKESHIMA Yasuhiro
- Department of Pediatrics, Graduate School of Medicine, Kobe University
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- MATSUO Masafumi
- Department of Pediatrics, Graduate School of Medicine, Kobe University
Journal
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- Journal of human genetics
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Journal of human genetics 55(12), 785-790, 2010-12-01
Nature Publishing Group
References: 22
-
1
- Mammalian retroelements
-
DEININGER P. L.
Genome Res. 12, 1455-1465, 2002
Cited by (1)
-
2
- A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
-
CHEN J. M.
Hum. Genet. 117, 411-427, 2005
Cited by (1)
-
3
- Retrotransposable elements and human disease
-
CALLINAN P. A.
Genome Dyn. 1, 104-115, 2006
Cited by (1)
-
4
- LINE dancing in the human genome : transposable elements and disease
-
BELANCIO V. P.
Genome Med. 1, 97, 2009
Cited by (1)
-
5
- Biology of mammalian L1 retrotransposons
-
OSTERTAG E. M.
Annu. Rev. Genet. 35, 501-538, 2001
Cited by (1)
-
6
- LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease : mutation detection bias and multiple mechanisms of target gene disruption
-
CHEN J. M.
J. Biomed. Biotechnol. 2006, 56182, 2006
Cited by (1)
-
7
- Processed pseudogenes are more abundant in human and mouse X chromosomes than in autosomes
-
DROUIN G.
Mol. Biol. Evol. 23, 1652-1655, 2006
Cited by (1)
-
8
- Insertion of a 5'truncated L1 element into the 3'end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
-
NARITA N.
J. Clin. Invest. 91, 1862-1867, 1993
Cited by (1)
-
9
- Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intra-exonic four-nucleotide deletion in the dystrophin gene
-
TRAN V. K.
J. Med. Genet. 43, 924-930, 2006
Cited by (1)
-
10
- Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
-
MATSUO M.
J. Clin. Invest. 87, 2127-2131, 1991
Cited by (1)
-
11
- A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient
-
TRAN V. K.
Hum. Genet. 120, 737-742, 2007
Cited by (1)
-
12
- Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling
-
EJIMA Y.
Hum. Mol. Genet. 12, 1321-1328, 2003
Cited by (1)
-
13
- Retrotransposons revisited : the restraint and rehabilitation of parasites
-
GOODIER JL
Cell 135, 23-35, 2008
Cited by (3)
-
14
- Human LINE retrotransposons generate processed pseudogenes
-
ESNAULT C.
Nat. Genet. 24, 363-367, 2000
Cited by (5)
-
15
- Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
-
TABATA Ayako , SHENG Jian-Sheng , USHIKAI Miharu , SONG Yuan-Zong , GAO Hong-Zhi , LU Yao-Bang , OKUMURA Fumihiko , IIJIMA Mikio , MUTOH Kozo , KISHIDA Shosei , SAHEKI Takeyori , KOBAYASHI Keiko
Journal of Human Genetics 53(6), 534-545, 2008-06-01
Ichushi Web References (52) Cited by (5)
-
16
- A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion
-
HOLMES SE
Nat. Genet. 7, 143-148, 1994
Cited by (3)
-
17
- Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy
-
YOSHIDA K.
Hum Mol Genet 7, 1129-1132, 1998
DOI Cited by (3)
-
18
- A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene : further evidence for possible bias in retroposon integration
-
MUSOVA Z.
Biochem. Biophys. Res. Commun. 347, 145-149, 2006
Cited by (2)
-
19
- An analysis of 5'-noncoding sequence from 699 vertebrate messenger RNAs
-
KOZAK M.
Nucleic Acids Res. 15, 8125-8133, 1987
DOI Cited by (51)
-
20
- L1 elements, processed pseudogenes and retrogenes in mammalian genomes
-
DING W.
IUBMB Life 58, 677-685, 2006
Cited by (1)
-
21
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
-
TAKESHIMA Yasuhiro , YAGI Mariko , OKIZUKA Yo , AWANO Hiroyuki , ZHANG Zhujun , YAMAUCHI Yumiko , NISHIO Hisahide , MATSUO Masafumi
Journal of human genetics 55(6), 379-388, 2010-06-01
Ichushi Web References (44) Cited by (4)
-
22
- L1 retrotransposition in human neural progenitor cells
-
COUFAL N. G.
Nature 460(7259), 1127-1131, 2009
Cited by (6)