Register for an account


Enter your name and email address below.

Your email address is used to log in and will not be shared or sold. Read our privacy policy.


Website access code

Enter your access code into the form field below.

If you are a Zinio, Nook, Kindle, Apple, or Google Play subscriber, you can enter your website access code to gain subscriber access. Your website access code is located in the upper right corner of the Table of Contents page of your digital edition.


Non-coding, but fitness implicating?

Gene ExpressionBy Razib KhanJuly 18, 2007 3:19 AM


Sign up for our email newsletter for the latest science news

Widely distributed noncoding purifying selection in the human genome (PNAS):

It is widely assumed that human noncoding sequences comprise a substantial reservoir for functional variants impacting gene regulation and other chromosomal processes. Evolutionarily conserved noncoding sequences (CNSs) in the human genome have attracted considerable attention for their potential to simplify the search for functional elements and phenotypically important human alleles. A major outstanding question is whether functionally significant human noncoding variation is concentrated in CNSs or distributed more broadly across the genome. Here, we combine wholegenome sequence data from four nonhuman species (chimp, dog, mouse, and rat) with recently available comprehensive human polymorphism data to analyze selection at single-nucleotide resolution. We show that a substantial fraction of active purifying selection in human noncoding sequences occurs outside of CNSs and is diffusely distributed across the genome. This finding suggests the existence of a large complement of human noncoding variants that may impact gene expression and phenotypic traits, the majority of which will escape detection with current approaches to genome analysis.

Purifying selection basically works against mutations which result in functional changes which might be deleterious; so it operates as a constraining force upon genetic diversification. Related: This post from RPM, The Frailty of Nearly Neutral Hypotheses, is highly recommended.

    3 Free Articles Left

    Want it all? Get unlimited access when you subscribe.


    Already a subscriber? Register or Log In

    Want unlimited access?

    Subscribe today and save 50%


    Already a subscriber? Register or Log In