title: A high-resolution recombination map of the human genome.
abstract: 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.
authors.affiliation: deCODE genetics, Sturlugotu 8, IS-101 Reykjavik, Iceland. kong@decode.is
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.forename: Jesus
authors.initials: J
authors.lastname: Sainz
authors.forename: Gudrun M
authors.initials: GM
authors.lastname: Jonsdottir
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Bjorgvin
authors.initials: B
authors.lastname: Richardsson
authors.forename: Sigrun
authors.initials: S
authors.lastname: Sigurdardottir
authors.forename: John
authors.initials: J
authors.lastname: Barnard
authors.forename: Bjorn
authors.initials: B
authors.lastname: Hallbeck
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: Adam
authors.initials: A
authors.lastname: Shlien
authors.forename: Stefan T
authors.initials: ST
authors.lastname: Palsson
authors.forename: Michael L
authors.initials: ML
authors.lastname: Frigge
authors.forename: Thorgeir E
authors.initials: TE
authors.lastname: Thorgeirsson
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Gulcher
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D008540:Meiosis; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic / Q000235:genetics*; D012044:Regression Analysis