TY - JOUR
T1 - Distribution of recombination crossovers and the origin of haplotype blocks
T2 - The interplay of population history, recombination, and mutation
AU - Wang, Ning
AU - Akey, Joshua M.
AU - Zhang, Kun
AU - Chakraborty, Ranajit
AU - Jin, Li
N1 - Funding Information:
This work was supported by National Institutes of Health grants to R.C. and L.J. K.Z. was also supported by the Hite Foundation.
PY - 2002/11/1
Y1 - 2002/11/1
N2 - Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no recombination within each block but allows for recombination between blocks, and we use it to study the combined effects of demographic history and various population genetic parameters on haplotype block characteristics. Through extensive coalescent simulations and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of population demographic history, recombination, and mutation dictate haplotype block characteristics and (2) haplotype blocks can arise in the absence of recombination hot spots. Finally, we provide practical guidelines for designing and interpreting studies investigating haplotype block structure.
AB - Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no recombination within each block but allows for recombination between blocks, and we use it to study the combined effects of demographic history and various population genetic parameters on haplotype block characteristics. Through extensive coalescent simulations and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of population demographic history, recombination, and mutation dictate haplotype block characteristics and (2) haplotype blocks can arise in the absence of recombination hot spots. Finally, we provide practical guidelines for designing and interpreting studies investigating haplotype block structure.
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U2 - 10.1086/344398
DO - 10.1086/344398
M3 - Article
C2 - 12384857
AN - SCOPUS:0036844238
SN - 0002-9297
VL - 71
SP - 1227
EP - 1234
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -