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

The Journal of Clinical Investigation
N NaritaM Matsuo


We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD). When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers with DMD, it was found to be approximately 600 bp larger than expected. Both the normal and the abnormally large products were amplified from the DNA of their mother. However, the maternal grandparents did not have the abnormal allele, and the mutation must therefore have occurred in the mother. Analysis of nucleotide sequence of the amplified product from a patient disclosed that the insertion was present zero to two bases upstream from the 3' end of exon 44 and that two to four bases of the exon sequence were deleted from the insertion site. The insertion sequence was found to be composed of 606-608 bp and to be almost identical to the inverse complement of 3' portion of the L1 retrotransposon consensus sequence. The dystrophin gene transcript from peripheral lymphocytes of one of the patients was analyzed by using reverse transcription/semi-nested PCR. The size of the amplified product encompassing exon 42 to 46 was smaller than ex...Continue Reading


Dec 30, 1991·Science·B A DombroskiH H Kazazian
Dec 30, 1991·Science·S L MathiasA Gabriel
Aug 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·D H FitchJ L Slightom
Jul 31, 1990·Biochemical and Biophysical Research Communications·M MatsuoH Nakamura
Jan 1, 1986·Annual Review of Genetics·M R Green
Dec 9, 1988·Nucleic Acids Research·J S ChamberlainC T Caskey
Jan 1, 1986·Cold Spring Harbor Symposia on Quantitative Biology·J Skowronski, M F Singer


Jan 1, 1995·Virus Genes·C Leib-Mösch, W Seifarth
Jan 1, 1996·Journal of Mammary Gland Biology and Neoplasia·B B Asch
Nov 1, 1995·Somatic Cell and Molecular Genetics·M R LittlejohnD M Woodcock
Nov 12, 2010·Histochemistry and Cell Biology·Ferya Banaz-YaşarSüleyman Ergün
Mar 1, 1995·Journal of the Neurological Sciences·M UchinoM Ando
Jan 29, 2000·Brain Research. Molecular Brain Research·T KojimaK Mikoshiba
Oct 7, 1998·Epilepsy Research·H XieN C de Lanerolle
Mar 1, 2003·Neuromuscular Disorders : NMD·Sylvie BessePascale Guicheney
Jul 17, 1999·Neuromuscular Disorders : NMD·Alessandra FerliniF Muntoni
May 1, 1997·Nature Genetics·D M SassamanH H Kazazian
Jun 1, 1994·Nature Genetics·M H Edgell
Jul 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·B A DombroskiH H Kazazian
Feb 28, 1998·The EMBO Journal·T P NaasH H Kazazian
Apr 19, 2007·Nucleic Acids Research·Masanobu KinomotoKenzo Tokunaga
May 26, 2011·Nucleic Acids Research·Kamal Rawal, Ram Ramaswamy
Jan 1, 1997·Annual Review of Biochemistry·N L Craig
Aug 1, 2006·Journal of Biomedicine & Biotechnology·Todd Graham, Stephane Boissinot
May 1, 1993·The Journal of Clinical Investigation·H H Kazazian, A F Scott
Oct 30, 2007·BMC Genomics·Tomasz ZemojtelMartin Vingron
Sep 4, 2010·Mobile DNA·Kathryn A O'Donnell, Kathleen H Burns
Oct 30, 2004·Genetics·E Andrew BennettScott E Devine
May 19, 2006·International Journal of Environmental Research and Public Health·Shubha P KaleAstrid M Roy-Engel
Nov 19, 2013·Mutation Research. Genetic Toxicology and Environmental Mutagenesis·Laleh HabibiSeyed Mohammad Akrami
May 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Shuji KuboNoriyuki Kasahara
Aug 2, 2011·Annual Review of Genomics and Human Genetics·Christine R BeckJohn V Moran
Aug 5, 1998·Current Opinion in Genetics & Development·H H Kazazian
Oct 4, 2013·Journal of Virology·R Brad JonesMario A Ostrowski
Jan 22, 2013·Gene·Kristel Kaer, Mart Speek
Jun 15, 2007·FEBS Letters·Anton BuzdinMarc-Henri Lebrun
Mar 3, 2007·Trends in Genetics : TIG·Ryan E MillsScott E Devine
Nov 19, 2011·Human Mutation·Szilvia SolyomH H Kazazian
Jul 1, 2006·Biochemical and Biophysical Research Communications·Zuzana MusovaZdenek Sedlacek
Jul 30, 2015·DNA and Cell Biology·Laleh HabibiKhadijeh Bonyadi
Nov 9, 2001·Annual Review of Genetics·E M Ostertag, H H Kazazian
Nov 3, 2012·Neuromuscular Disorders : NMD·Alessandra FerliniFrancesca Gualandi
Nov 29, 1996·Cell·John V MoranH H Kazazian
Oct 10, 2002·Genome Biology·Suzanne T SzakJef D Boeke
May 10, 2016·Mobile DNA·Dustin C Hancks, H H Kazazian
May 17, 2013·Genes & Genetic Systems·Yi-Deun JungHeui-Soo Kim
Mar 21, 1997·The Journal of Biological Chemistry·D M WoodcockW D Warren
Aug 18, 2010·Laboratory Investigation; a Journal of Technical Methods and Pathology·Bruce F SmithDongsheng Duan
Mar 20, 2001·Nature Reviews. Genetics·E T Prak, H H Kazazian
May 20, 1998·Nature Genetics·H H Kazazian, John V Moran
Jul 15, 2005·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Jeffrey S Han, Jef D Boeke
Aug 12, 2005·Cytogenetic and Genome Research·M Dewannieux, T Heidmann
May 15, 2002·Nature Genetics·Tammy A MorrishJohn V Moran
Aug 11, 1998·Nature Genetics·U SchwahnW Berger
Feb 24, 2001·Genome Génome / Conseil National De Recherches Canada·A Haoudi, J M Mason
May 6, 2019·Molecular Ecology Resources·Lukas Weilguny, Robert Kofler
Jan 25, 2020·Annual Review of Pathology·Kathleen H Burns
Feb 14, 1998·The Journal of Biological Chemistry·Z YangR Lawn
Apr 26, 2003·The Journal of Biological Chemistry·Kim P Lu, Kenneth S Ramos
Sep 21, 2020·Annals of Clinical and Translational Neurology·Zhiying XieYun Yuan
Mar 29, 2016·Journal of Genetics·A Vieira-da-SilvaR Chaves
May 27, 2017·Molecular Genetics & Genomic Medicine·Kandai NozuIgor Vorechovsky
Jul 20, 2018·Open Biology·Gabriela O BodeaGeoffrey J Faulkner
Sep 14, 2019·Nature Reviews. Genetics·Lindsay M Payer, Kathleen H Burns
Jan 15, 2018·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Savannah J Klein, Rachel J O'Neill

Related Concepts

DNA, Double-Stranded
DNA Transposons
Muscular Dystrophy
Genealogical Tree
RNA, Messenger, Splicing
Homologous Sequences, Nucleic Acid
Nested Polymerase Chain Reaction

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.