Table 2.
Twenty-nine splice events identified in 30 related rhesus macaques by PacBio sequencing of KIR transcripts.
| Splice event | Deletion/Inclusion | Size (bp) | Position | Observed in KIR genes | Result |
|---|---|---|---|---|---|
| Exon skipping (“cassette” exon) | Deletion | 300p | Exon 4 | 3DL05, 3DL20, 3DS05 | Missing D1 domain |
| Deletion | 294 | Exon 5 | 3DL01/02/05/07/10, 3DL10A/3DL02 | Missing D2 domain | |
| Deletion | 51 | Exon 6 | 2DL04 | Missing stem region | |
| Deletion | 53 | Exon 8 | 2DL04 | Missing first region cytoplasmic tail | |
| Deletion | 594 | Exons 4 + 5 | 3DL07, 3DL20 | Missing D1 and D2 domain; possible KIR1D receptor | |
| Deletion | 446 | Exons 5, 6 and 7 | 3DL01/05/07/10, 3DL10A/3DL02 | Missin D2 domain, stem region, and transmembrane region | |
| Deletion | 155 | Exons 6 and 7 | 2DL04 | Missing stem and transmembrane region; possible soluble receptor | |
| Alternative 3′ ss | Deletion | 36 | Start exon 4 | 3DL01/02/05/07/08/10, 3DL20, 3DS01/02/03/05/w08, 3DL02/3DL08A | In-frame; Missing 12 AA in the beginning of the D1 domain |
| Deletion | 216 | Start exon 4 | 3DL02/08, 3DS05/w08, 3DL02/3DL08A | In-frame; Missing 72 AA in the beginning of the D1 domain | |
| Deletion | 267 | Start exon 4 | 3DL05, 3DS05 | In-frame; Missing 89 AA in the beginning of the D1 domain | |
| Deletion | 27 | Start exon 5 | 2DL04 | In-frame; Missing 9 AA in the beginning of the D2 domain | |
| Deletion | 115 | Start exon 5 | 3DL07/08/10, 3DL20, 3DS03, 3DL02/3DL08A, 3DL10A/3DL02 | Out-frame; Stopcodon introduced | |
| Deletion | 150 | Start exon 5 | 3DL02/w03/10 | In-frame; Missing 50 AA in the beginning of the D2 domain | |
| Deletion | 176 | Start exon 5 | 3DL07, 3DL10A/3DL02 | Out-frame; Stopcodon introduced | |
| Inclusion | 109 | Following exon 7 | 2DL04 | Out-frame; Stopcodon introduced | |
| Inclusion | 147 | Following exon 7 | 2DL04 | Stopcodon introduced | |
| Inclusion | 245/246 | Following exon 7 | 2DL04, 3DL07 | Stopcodon introduced | |
| Alternative 5′ ss | Deletion | 198 | End exon 3 | 3DL02, 3DS05, 3DL02/3DL08A | In-frame; Missing 66 AA in the end of the D0 domain |
| Inclusion | 109 | Following exon 3 | 2DL04 | Stopcodon introduced | |
| Alternative 3′ and 5′ ss | Deletion | 81 | Within exon 4 | 3DS02 | In-frame; Missing 27 AA in center of the D1 domain |
| Deletion | 107 | Within exon 4 | 3DS02 | Out-frame; Stopcodon introduced | |
| Deletion | 141 | Within exon 4 | 3DL08, 3DSw08, 3DL02/3DL08A | In-frame; Missing 47 AA in center of the D1 domain | |
| Deletion | 414 | Parts exons 3 and 4 | 3DS05 | In frame; Missing parts D0 and D1 domains | |
| Deletion | 324 | Parts exons 4 and 5 | 3DL20 | In frame; Missing parts D1 and D2 domains | |
| Exkon skipping + Alt. 3′ ss | Deletion | 415 | Exon 4 and start exon 5 | 3DL20 | Out-frame; Missing the D1 domain and stopcodon introduced |
| Cryptic exon | Inclusion | 88 | Following exon 5 | 3DL01 | Out-frame; Stopcodon introduced |
| Inclusion | 147 | Following exon 5 | 2DL04 | Stopcodon introduced | |
| Inclusion | 47 | Following exon 6 | 3DL07 | Out-frame; Stopcodon introduced | |
| Intron retention | Inclusion | 98/99 | Following exon 8 | 2DL04 | “98 bp” alleles: out-frame; Stopcodon introduced “99 bp” alleles: in-frame; 33 additional AA′s subsequent to exon 8 |
The events are listed per alternative splicing mechanism. The size of deletions or inclusions are indicated in base pairs (bp). The result of the alternative splice event is predicted. The background color of each splice event corresponds to the background color of the different lineages illustrated in Figure 2B.