Supplemental Data Positive Selection on MMP3 Regulation Has Shaped Heart Disease Risk

作者: Matthew V Rockman , Matthew W Hahn , Nicole Soranzo , Dagan A Loisel , David B Goldstein

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摘要: The primate haplotype phylogeny (Figure 2A) is the maximum likeli- model is 1.256 10 9. The data are consistent with a molecular clock, and the molecular clock assumption has no impact on the hood (ML) tree based on the best-fit model (estimated equilibrium nucleotide frequencies, estimated transition: transversion ratio, HKY mutation rate estimate. Note that this estimate of is based on the promoter only, while the 11 kb haplotypes include the coding region implementation); phylogenetic analyses were performed with PAUP*[S1]. The data set consists of an 1803 bp alignment, generated in and introns as well. Because several of the mutations on the haplotypes are indels, it makes sense to calculate a mutation rate that Clustal X [S2], excluding the gapped sites in the TnCn region. Humans are represented by the five most common haplotypes in the Seat- incorporates indel rate; literature estimates, such as 0.99 10 9 [S12], are for base-pair substitutions only. However, different estitleSNPs database. mates of do not qualitatively alter our result. Allele age [S13] was estimated as time distance/rate. With an average distance 0.355 Substitution Rate Analysis between 5T-bearing haplotypes and the inferred ancestral 5T haplo-

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