A transposon-like element in the deletion-prone region of the dystrophin gene.
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.
Pizzuti
A
A
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Pieretti
M
M
Fenwick
R G
RG
Gibbs
R A
RA
Caskey
C T
CT
D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
D004251:DNA Transposable Elements; D016189:Dystrophin; D004247:DNA