SNPs as Windows on Evolution

Single nucleotide polymorphisms--variants in DNA sequences better known as SNPs and pronounced snips--provide a shortcut to comparing genes and genomes within and among species. The need to study SNPs has spawned a number of companies aimed at matching SNP patterns to disease risks. A few other organizations, however, are taking a broader view: mining SNPs for clues to human diversity and evolution. Association studies that correlate SNP patterns to disease risks are straightforward. Clues to

Ricki Lewis
Jan 6, 2002
Single nucleotide polymorphisms--variants in DNA sequences better known as SNPs and pronounced snips--provide a shortcut to comparing genes and genomes within and among species. The need to study SNPs has spawned a number of companies aimed at matching SNP patterns to disease risks. A few other organizations, however, are taking a broader view: mining SNPs for clues to human diversity and evolution.

Association studies that correlate SNP patterns to disease risks are straightforward. Clues to the past can be subtler, but they are found at all levels of evolution--from the great branching points of speciation, to ones among the primates, to those within modern human populations. And a general consensus has emerged: Humans haven't changed much since coming out of Africa long ago.

"This is a tremendously exciting time to study human variation, because we finally have enough tools and infrastructure to correlate genotype to phenotype. The human genome...