Exon-intron organization of the human dystrophin gene.

Abstract:

:Analysis of the exon-intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we have succeeded in defining the size of the gene and its organization. Our results, compared with data on the distribution of deletion breakpoints by intron, elucidate the topography of the intragenic deletion-prone regions. Within the central high-frequency deletion region, the small, 6.6-kb, intron 49 shows a much higher density of deletion breakpoints than intron 44, which was previously believed to coincide with the most mutable zone of the gene. On the other hand, in the proximal part of the gene, deletion breakpoints do not preferentially occur in a few introns, but are spread over a large DNA segment containing introns 2 to 42.

journal_name

Genomics

journal_title

Genomics

authors

Nobile C,Marchi J,Nigro V,Roberts RG,Danieli GA

doi

10.1006/geno.1997.4911

subject

Has Abstract

pub_date

1997-10-15 00:00:00

pages

421-4

issue

2

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(97)94911-9

journal_volume

45

pub_type

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