Published online before print
April 14, 2003, 10.1101/gr.574403
Vol 13, Issue 5, 856-867, May 2003
LETTER
Predicting Human Minisatellite Polymorphism
France Denoeud1,4,
Gilles Vergnaud1,2 and
Gary Benson3
1Laboratoire GPMS, Institut de Génétique et
Microbiologie, Université Paris-Sud, 91405 Orsay cedex, France,2
Centre d'Etudes du Bouchet, 91710 Vert le Petit, France,
and 3Department of Biomathematical Sciences, Mount Sinai
School of Medicine, New York, New York 10029, USA
We seek to define sequence-based predictive criteria to identify
polymorphic and hypermutable minisatellites in the human genome.
Polymorphism of a representative pool of minisatellites, selected from
human chromosomes 21 and 22, was experimentally measured by PCR typing
in a population of unrelated individuals. Two predictive approaches
were tested. One uses simple repeat characteristics (e.g., unit length,
copy number, nucleotide bias) and a more complex measure, termed
HistoryR, based on the presence of variant motifs in the tandem array.
We find that HistoryR and percentage of GC are strongly correlated with
polymorphism and, as predictive criteria, reduce by half the number of
repeats to type while enriching the proportion with heterozygosity
0.5, from a background level of 43% to 59%. The second approach
uses length differences between minisatellites in the two releases of
the human genome sequence (from the public consortium and Celera). As a
predictor, this similarly enriches the number of polymorphic
minisatellites, but fails to identify an unexpectedly large number of
these. Finally, typing of the highly polymorphic minisatellites in
large families identified one new hypermutable minisatellite, located
in a predicted coding sequence. This may represent the first coding
human hypermutable minisatellite.
[Supplemental material is
available online at www.genome.org.]
4 Corresponding author.
E-MAIL France.Denoeud{at}igmors.u-psud.fr; FAX 33-1-69-15-66-78.
Article and publication are at
http://www.genome.org/cgi/doi/10.1101/gr.574403. Article published online before print in April 2003.

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