Table 1.

Known Human Hypermutable Minisatellites

Minisatellite name Locus or D-number Location Accession number Consensus length Nb of variant positions Percent match (%M) GC% (bias) Purine % (bias) Instability Proportion of paternal events
CEB1D2S902q37.3 (T) AF048727 3989072 (0.53)68 (0.38)6.7%97%
CEB15D1S1721p36.33 (T) AL096805 1889168 (0.33)77 (0.56)1.5%100%
CEB25D10S18010q26.3 (T) AL096806 52>208253 (0.73)67 (0.36)2.5%65%
CEB36D10S47310q26.3 (T) AL096810 42189364 (0.65)66 (0.32)1.8%50%
CEB42D8S3588q24.3 (T) AL096807 4149563 (0.11)53 (0.08)0.5%100%
CEB72D17S88817q25 (T) AL096808 21010071 (0.60)80 (0.62)1.8%65%
MS1D1S71p33–35 (I) X14856 938558 (0.93)79 (0.60)5%50%
MS32D1S81q42 (I) AF048729 2939261 (0.37)67 (0.35)0.4%50%
B6.720q13.3 (T) AF081787 3469160 (0.5)68 (0.37)5.5%64%
CSTBEPM121q22.3 (T) U46692 12196100 (0.5)100 (0.5)47%76%

[i] Minisatellites showing instability higher than 1% in the male or female germline are listed (with the exception of MS32, with a lower mutation rate, but which is a reference minisatellite in many investigations). The instability values indicated are most often average values, as measured usually in the large Centre d'Etudes du Polymorphisme Humain families (http://www.cephb.fr) with the exception of the cystatin B (CSTB) gene minisatellite. In this last case, the values given were measured in pathogenic, expanded alleles (Larson et al. 1999). Similarly, the mutation rate at CEB1 alleles has been shown to vary between <0.02% (at smaller alleles) and >20% (Buard et al. 1998). Percent match (%M) is the average similarity of motifs with the consensus motif. GC bias is the absolute value of (G% − C%)/(G% + C%). Purine bias is the absolute value of (pur% − pyr%).