|Title||A transposon-like element in the deletion-prone region of the dystrophin gene.|
|Publication Type||Journal Article|
|Year of Publication||1992|
|Authors||Pizzuti, A, Pieretti, M, Fenwick, RG, Gibbs, RA, Caskey, CT|
|Date Published||1992 Jul|
|Keywords||Base 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|
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.
|Grant List||P30-HG00210 / HG / NHGRI NIH HHS / United States|