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african signatures of recent positive selection in human foxi1在人类foxi1非洲签名最近的积极的选择
Moreno-Estrada et al. BMC Evolutionary Biology 2010, 10:267
/1471-2148/10/267
RESEARCH ARTICLE Open Access
African signatures of recent positive selection in
human FOXI1
1,3 1 1 1 1
Andrés Moreno-Estrada , Estel Aparicio-Prat , Martin Sikora , Johannes Engelken , Anna Ramírez-Soriano ,
Francesc Calafell1,2, Elena Bosch1,2*
Abstract
Background: The human FOXI1 gene codes for a transcription factor involved in the physiology of the inner ear,
testis, and kidney. Using three interspecies comparisons, it has been suggested that this may be a gene under
human-specific selection. We sought to confirm this finding by using an extended set of orthologous sequences.
Additionally, we explored for signals of natural selection within humans by sequencing the gene in 20 Europeans,
20 East Asians and 20 Yorubas and by analysing SNP variation in a 2 Mb region centered on FOXI1 in 39
worldwide human populations from the HGDP-CEPH diversity panel.
Results: The genome sequences recently available from other primate and non-primate species showed that FOXI1
divergence patterns are compatible with neutral evolution. Sequence-based neutrality tests were not significant in
Europeans, East Asians or Yorubas. However, the Long Range Haplotype (LRH) test, as well as the iHS and XP-Rsb
statistics revealed significantly extended tracks of homozygosity around FOXI1 in Africa, suggesting a recent
episode of positive selection acting on this gene. A functionally relevant SNP, as well as several SNPs either on the
putatively selected core haplotypes or with significant iHS or XP-Rsb values, displayed allele frequencies strongly
correlated with the absolute geographical latitude of the populations sampled.
Conc
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