Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

Segregation analysis of CEPH and other pedigrees RESULTS yielded six patern al crossover breakpoints in the similar to 85 kb interval between the minis atellite loci D16S309 (MS205) and D16S83 (EKMDA2) in 16p13.3. Three crossov ers were mapped to within the same small (<3 kb) interval, which does not c o-localize with any tandem repeat array or expressed sequence. Haplotyping of loci harbouring single nucleotide polymorphism (SNP) markers in this int erval confirmed the exchange of flanking markers in the three recombinant i ndividuals. Sequence analysis revealed the presence of recombination-associ ated motifs and binding sites for the protein translin. Haplotyping of 108 individuals from three European populations at four loci harbouring SNPs sh owed substantial linkage equilibrium across this interval. Hence molecular and population genetic data are consistent with the presence of an intense male-specific recombination hotspot at this locus.