A high-resolution recombination map of the human genome

• Published in: Nature genetics Vol. 31; no. 3; pp. 241 - 247
• Main Authors: Kong, Augustine, Stefansson, Kari, Gudbjartsson, Daniel F, Sainz, Jesus, Jonsdottir, Gudrun M, Gudjonsson, Sigurjon A, Richardsson, Bjorgvin, Sigurdardottir, Sigrun, Barnard, John, Hallbeck, Bjorn, Masson, Gisli, Shlien, Adam, Palsson, Stefan T, Frigge, Michael L, Thorgeirsson, Thorgeir E, Gulcher, Jeffrey R
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.07.2002
• Subjects: Base Sequence; Biological and medical sciences; Chromosome Banding; Chromosome Mapping; Chromosomes; Classical genetics, quantitative genetics, hybrids; Environmental factors; Fundamental and applied biological sciences. Psychology; Genes. Genome; Genetic recombination; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genotype; Human; Human genome; Humans; Meiosis; Microsatellite Repeats - genetics; Molecular and cellular biology; Molecular genetics; Pedigree; Physiological aspects; Polymorphism, Single Nucleotide; Recombination, Genetic - genetics; Regression Analysis; Iceland; Genetic mapping; Human; High resolution; Recombination; Maps; Microsatellite DNA; Genetics; Marker; Sequence; Genome
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng917

Determination of recombination rates across the human genome has been constrained by the limited resolution and accuracy of existing genetic maps and the draft genome sequence. We have genotyped 5,136 microsatellite markers for 146 families, with a total of 1,257 meiotic events, to build a high-resolution genetic map meant to: (i) improve the genetic order of polymorphic markers; (ii) improve the precision of estimates of genetic distances; (iii) correct portions of the sequence assembly and SNP map of the human genome; and (iv) build a map of recombination rates. Recombination rates are significantly correlated with both cytogenetic structures (staining intensity of G bands) and sequence (GC content, CpG motifs and poly(A)/poly(T) stretches). Maternal and paternal chromosomes show many differences in locations of recombination maxima. We detected systematic differences in recombination rates between mothers and between gametes from the same mother, suggesting that there is some underlying component determined by both genetic and environmental factors that affects maternal recombination rates.