Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene: new definition of the alleles and evolutionary implications |
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Authors: | Buresi C; Desmarais E; Vigneron S; Lamarti H; Smaoui N; Cambien F; Roizes G |
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Institution: | INSERM U 249, Montpellier, France. |
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Abstract: | The internal structure of different alleles of the minisatellite present at
the 3' end of the apolipoprotein B (ApoB) gene has been analysed by
different approaches including sequencing. The repeat unit arrangements of
the minisatellite on 570 chromosomes belonging to European and African
populations were thus determined. It was possible to group the alleles
using this structural criterion much more clearly than by the number of
repeat units which can in some cases be misleading in case-control genetic
epidemiological studies using such DNA sequences as markers. We were thus
able to define five types (a to e) of alleles and their subtypes and to
recognize clearly those which are, respectively, specific of the African
and Caucasian populations. A phylogeny of the different alleles found in
all human populations could also be deduced by this approach. The different
putative mutational events leading from one type, or subtype, to the other
were simply determined as point mutations, expansion/contraction and
conversion events. Sequencing of one chimpanzee's allele suggested that the
ApoB minisatellite was present before divergence between great apes and
humans. It was determined also that a particular ApoB gene haplotype was in
linkage disequilibrium with the minisatellite (a) type of alleles. This and
the observation that the potential scaffold attachment regions (SAR) and
topoisomerase II binding sites present in this minisatellite have a
different distribution between the Caucasian and the African specific
alleles suggest that the minisatellite could be involved in the
epidemiology of coronary diseases.
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