Compositional mapping of the human dystrophin-encoding gene

T Bettecken, B Aissani, CR Müller, G Bernardi - Gene, 1992 - Elsevier
T Bettecken, B Aissani, CR Müller, G Bernardi
Gene, 1992Elsevier
The genomes of warm-blooded vertebrates are mosaics of long DNA segments (> 300 kb,
on the average), the isochores, homogeneous in GC levels, which belong to a small number
of compositional families. In the present work, the human dystrophin-encoding gene,
spanning more than 2.3 Mb in Giemsa band Xp21 (on the short arm of the X chromosome),
was analyzed in its isochore organization by hybridizing cDNA probes, corresponding to
eight contiguous segments of the coding sequence, on compositional fractions from human …
Abstract
The genomes of warm-blooded vertebrates are mosaics of long DNA segments (> 300 kb, on the average), the isochores, homogeneous in GC levels, which belong to a small number of compositional families. In the present work, the human dystrophin-encoding gene, spanning more than 2.3 Mb in Giemsa band Xp21 (on the short arm of the X chromosome), was analyzed in its isochore organization by hybridizing cDNA probes, corresponding to eight contiguous segments of the coding sequence, on compositional fractions from human DNA. Five DNA regions of uniform (± 0.5%) GC content, separated by compositional discontinuities of about 2% GC, were found, so providing the first high-resolution compositional map obtained for a human genome locus and the first direct estimate of isochore size (360 kb to more than 770 kb, in the locus under consideration). One of the isochores contains 71% and another one 21% of deletion breakpoints found in patients suffering from Duchenne's and Becker's muscular dystrophies.
Elsevier
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