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Balanced polymorphism in bottlenecked populations: the case of the CCR5 5' cis-regulatory region in Amazonian Amerindians.

Abstract：

:The 5' cis-regulatory region of the CCR5 gene exhibits a strong signature of balancing selection in several human populations. Here we analyze the polymorphism of this region in Amerindians from Amazonia, who have a complex demographic history, including recent bottlenecks that are known to reduce genetic variability. Amerindians show high nucleotide diversity (pi = 0.27%) and significantly positive Tajima's D, and carry haplotypes associated with weak and strong gene expression. To evaluate whether these signatures of balancing selection could be explained by demography, we perform neutrality tests based on empiric and simulated data. The observed Tajima's D was higher than that of other world populations; higher than that found for 18 noncoding regions of South Amerindians, and higher than 99.6% of simulated genealogies, which assume nonequilibrium conditions. Moreover, comparing Amerindians and Asians, the Fst for CCR5 cis-regulatory region was unusually low, in relation to neutral markers. These findings indicate that, despite their complex demographic history, South Amerindians carry a detectable signature of selection on the CCR5 cis-regulatory region.

journal_name

Hum Immunol

journal_title

Human immunology

authors

Ramalho RF,Santos EJ,Guerreiro JF,Meyer D

doi

10.1016/j.humimm.2010.05.022

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

922-8

issue

9

eissn

0198-8859

issn

1879-1166

pii

S0198-8859(10)00133-3

journal_volume

71

pub_type

杂志文章

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