RT Journal
A1 Denoeud, France
A1 Vergnaud, Gilles
A1 Benson, Gary
T1 Predicting Human Minisatellite Polymorphism
JF Genome Research 
JO Genome Research 
YR 2003 
FD May 01 
VO 13 
IS 5 
SP 856 
OP 867 
DO 10.1101/gr.574403 
UL http://genome.cshlp.org/content/13/5/856.abstract 
AB 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.]