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. 2014 Mar 20;10(3):e1004208. doi: 10.1371/journal.pgen.1004208

Table 2. Summary information of the genotyping in CEU individuals, gene effect, and evolutionary history for the 17 validated polymorphic inversions in the human genome.

Inversion Chr. N1 Inv freq. Observed heterozygosity Valid families Genes affected iPCR results2 Ancestral orientation3
Breakpoints Inverted region Chimp Gorilla
HsInv0114 chr9 92 0.64 0.50 12/12 no no Inv Inv* Inv
HsInv0124 chr11 92 0.39 0.43 12/12 BC040735 IFITM1 Std Std Std
HsInv0209 chr11 90 0.02 0.04 12/12 KRTAP5-10, KRTAP5-11 no Std Std Std
HsInv0241 chr2 92 0.16 0.28 12/12 AQP12A, AQP12B no Std Std/Inv Std
HsInv0278 chr5 92 0.10 0.20 12/12 TRNA_Val, TRNA_Leu no Inv Inv* Inv
HsInv0286 chr7 72 0.47 0.50 3/3 no no Std Std Std
HsInv0340 chr13 90 0.01 0.02 11/11 no OR7E156P, LOC647264 Std/Inv Inv* Inv
HsInv0341 chr13 92 0.03 0.07 12/12 no no Std/Inv Std Std
HsInv0344 chr14 92 0.59 0.48 12/12 SNX6 no Std/Inv ND Unknown
HsInv0347 chr14 92 0.10 0.15 12/12 no no Std Std/Inv Std
HsInv0389 chrX 69/46 0.17 0.17 14/14 no FLNA, EMD Inv Inv* Inv
HsInv0393 chrX 66/44 0.36 0.55 13/13 ARMCX6 no Std/Inv Inv Inv
HsInv0396 chrX 69/46 0.16 0.22 14/14 PABPC1L2A, PABPC1L2B no Std/Inv Std Std
HsInv0397 chrX 68/46 0.18 0.35 13/13 no no Std/Inv Inv* Inv
HsInv0403 chrX 69/46 0.26 0.30 14/14 no no Std/Inv Std/Inv Unknown
HsInv0832 chrY 25 0 0 7/7 no no Inv Std Unknown
HsInv1051 chr17 86 0 0 9/9 CCDC144B 7 genes4 ND ND Std
1

N, number of chromosomes from unrelated individuals.

For inversions located on chr. X, the first number refers to the chromosomes used to calculate the frequency of the inversion and the second number to the chromosomes in females used to calculate the heterozygosity.

2

iPCR results derive from the analysis of four chimpanzees and two gorillas and those not coinciding with the current orientation of the species genome (panTro4 or gorGor3) are marked with an asterisk.

For HsInv0389, iPCR data from chimpanzees is consistent with the experimental analysis of Cáceres et al. [59]. ND, not determined.

3

Estimation of the ancestral orientation is based mainly on the iPCR results for chimpanzee and gorilla.

Those cases in which the phylogenetic trees are informative and support the results from the iPCR are shown in boldface. For HsInv1051, the ancestral state is based on the chimpanzee genome and the disruption of the CCDC144B gene in the inverted orientation.

4

Genes completely included within the inversion are TBC1D28, ZNF286B, FOXO3B, TRIM16L, FBXW10, FAM18B1, and DKFZp434O1826.