AluS indels assayed in primates by PCR and BLAST
Case no. | Fam. | Positiona | TSD (bp) | H | C | G | O | Gi | B | R | Location/nearest genes |
|---|---|---|---|---|---|---|---|---|---|---|---|
| C1 | Sx | 20:11512274 | 13 | Y | N | N | N | N | N | N | ∼354 kb 5′ of BTBD3 (BTB/POZ domain containing-3) |
| C2 | Sg | 15:83819720 | 16 | Y | N | N | N | N | N | N | In intron of AKAP13 (A-kinase anchor protein) |
| C3 | Sg | 7:104197804 | 19 | Y | N | N | N | I | N | N | ∼17 kb 5′ of MLL5 (Myeloid/lymphoid leukemia 5) |
| C4 | Sg | 20:18254452 | 15 | Y | N | N | N | N | N | N | ∼9.7 kb 5′ of ZNF133 (Kruppel Zn-finger protein) |
| 14 | Sg | 3:127318836 | 17 | Y | N | Y | Y | ? | ? | Y | ∼63 kb 3′ of KLF15 (Kruppel-like factor 15) |
| 33 | Sx | 12:48585272 | 16 | Y | N | Y | Y | Y | Y | Y | ∼1.3 kb 5′ of FAIM2 (Fas apoptotic inhibitory molecule 2) |
| 42 | Sq | 16:69279114 | 16 | Y | N | Y | Y | Y | Y | Y | ∼5.2 kb 3′ of CYB5-M (cytochrome b5) |
| 43 | Sx | 16:74232245 | 17 | Y | Y/Nb | Y | Y | Y | ? | Y | In intron of LOC348174 (secretory protein) |
| 52 | Sq | 22:45658137 | 15 | Y | N | Y | ? | Y | ? | Y | In intron of C22orf4 (putative GTPase activator) |
Cases beginning with “C” are controls, and others refer to cases in the Supplemental information. TSD indicates target site duplication. H indicates human; C, chimpanzee; G, gorilla; O, orangutan; Gi, gibbon; B, baboon (all assayed by PCR), R indicates discontiguous MegaBLAST results from the Rhesus monkey trace archive. Y indicates Alu is present; N, Alu is absent (as determined by PCR or discontiguous MegaBLAST); I, independent Alu insertion in the same region in gibbon; and ?, primers did not amplify or product is of unexpected size.
a Chromosome and position in July 2003 Human Genome Browser (http://genome.ucsc.edu).
b Alu #43 is “polymorphic” in all chimpanzees tested. Region is triplicated in human with all 3 having the Alu in human and one region lacking the Alu in chimpanzee.