TY - JOUR

T1 - Fixation biases affecting human SNPs.

AU - Webster, Matthew T.

AU - Smith, Nick G. C.

PY - 2004

Y1 - 2004

N2 - Under neutrality all classes of mutation have an equal probability of becoming fixed in a population. In this article, we describe our analysis of the frequency distributions of >5000 human SNPs and provide evidence of biases in the process of fixation of certain classes of point mutation that are most likely to be attributable to biased gene conversion. The results indicate an increased fixation probability of mutations that result in the incorporation of a GC base pair. Furthermore, in transcribed regions this process exhibits strand asymmetry, and is biased towards preserving a G base on the coding strand. Biased gene conversion has the potential to explain both the existence of isochores and the compositional asymmetry in mammalian transcribed regions.

AB - Under neutrality all classes of mutation have an equal probability of becoming fixed in a population. In this article, we describe our analysis of the frequency distributions of >5000 human SNPs and provide evidence of biases in the process of fixation of certain classes of point mutation that are most likely to be attributable to biased gene conversion. The results indicate an increased fixation probability of mutations that result in the incorporation of a GC base pair. Furthermore, in transcribed regions this process exhibits strand asymmetry, and is biased towards preserving a G base on the coding strand. Biased gene conversion has the potential to explain both the existence of isochores and the compositional asymmetry in mammalian transcribed regions.

U2 - 10.1016/j.tig.2004.01.005

DO - 10.1016/j.tig.2004.01.005

M3 - Journal article

VL - 20

SP - 122

EP - 126

JO - Trends in Genetics

JF - Trends in Genetics

SN - 1362-4555

IS - 3

ER -