A transposon-like element in the deletion-prone region of the dystrophin gene.

TitleA transposon-like element in the deletion-prone region of the dystrophin gene.
Publication TypeJournal Article
Year of Publication1992
AuthorsPizzuti, A, Pieretti, M, Fenwick, RG, Gibbs, RA, Caskey, CT
JournalGenomics
Volume13
Issue3
Pagination594-600
Date Published1992 Jul
ISSN0888-7543
KeywordsBase Sequence, Chromosome Deletion, DNA, DNA Mutational Analysis, DNA Transposable Elements, Dystrophin, Humans, Introns, Male, Molecular Sequence Data, Muscular Dystrophies, Restriction Mapping, Sequence Homology, Nucleic Acid
Abstract

The central portion of the dystrophin gene locus is a preferential site for deletions causing progressive muscular dystrophy of the Duchenne type (DMD). The nucleotide sequence of a deletion junction fragment from a DMD patient was determined, revealing that the proximal breakpoint of the deletion in intron 43 fell within the sequence of a transposon-like element. This segment, belonging to the THE-1 family of human transposable elements, is normally present in a complete form in intron 43 of the dystrophin gene. The deletion mutation was maternally transmitted and eliminated two-thirds of the THE-1 element. Analysis of DNA from additional DMD patients revealed a second deletion with the proximal breakpoint mapping within the same THE-1 element.

Alternate JournalGenomics
PubMed ID1322353
Grant ListP30-HG00210 / HG / NHGRI NIH HHS / United States