Table 3.
Overlapping gene groups in human Chr 22 (Sanger annotation)
| Gene locus | No. of exons, strand | Description | Relations |
|---|---|---|---|
| (1) AP000546.2 | 7,− | Similar to Wp:CE19906 and C2 genomic clone Em:AC002038 | Ψg AP000546.1 and gene (2) are in the same boundary intron of gene (1); the Ψg AP000545.1 is immediately 3′ to gene (1) |
| (2) AP000547.1 | 3,+ | Similar to Tr:O96017 protein kinase | |
| (1) AC008101.3 | 7,+ | Human cDNA for KAIA2502 protein | Ψg AC008101.2 is in an internal intron of (2) |
| (2) AC008101.5 | 3,− | Matches ESTs | |
| (1) CLTCL1 | 33,− | Clathrin-heavy polypeptide-like 1 | CLTCL1 may play a role in hypertonia in VCFS; DVL1L1 is deleted in DGS and is partly responsible for catch-22 syndrome; two Ψgs (AC000081.1; AC000094.2) are in two internal introns of (1); gene (2) is intronless |
| (2) DVL1L1 | 1,− | Human homologue sequences to the 3′ end of D. dishevelled segment-polarity gene are deleted in the DGS | |
| (1) TR | 18,− | Thioredoxin reductase beta | Gene (2) is involved in 22q11 deletion syndrome (inc. VCFS/DGS); Ψg AC000078.2 is in an intron of TR |
| (2) COMT | 6,+ | Catechol-O-methyltransferase | |
| (1) AC006547.4 | 14,+ | Matches ENCORE sequence | The first and last exons of the genes overlap by 3 bp |
| (2) AC006547.2 | 12,− | Similar to Tr:P70222 mouse HTF9C | |
| (1) AC007731.1 | 5,+ | Matches ESTs—novel LCR gene | Gene (1) is in an intron of USP18 |
| (2) USP18 | 9,− | Ubiquitin-specific protease 18 | |
| (1) SERPIND1 | 4,+ | Heparin cofactor II (HCF2) | SERPIND1/HCF2 is related to thrombophilia |
| (2) PIK4CA | 55,− | Phosphatidylinositol 4-kinase α-subunit | |
| (1) GNAZ | 3,+ | G protein α-subunit | GNAZ is in an intron of RTDR1 RTDR1 and the gene RAB36 are often deleted in pediatric rhabdoid tumors |
| (2) RTDR1 | 7,− | Rhabdoid tumor deletion region protein 1 | |
| (1) AP000344.6 | 9,+ | Matches Incyte ESTs (imperfect match) | |
| (2) AP000344.2 | 6,− | Matching EST cluster | |
| (1) AP000346.5 | 1,+ | Similar to Tr:O70122 mouse sodium-glucose cotransporter | Gene (1) is in intron of gene (2) |
| (2) AP000346.6 | 7,− | Homo sapiens mRNA | |
| (1) AP000348.3 | 6,+ | Matches EST cluster | |
| (2) AP000348.4 | 4,− | Similar to Sw:Q03667 and Sw:Q09254 | |
| (1) SMARCB1 | 9,+ | SWI/SNF related matrix-associated actin-dependent regulator of chromatin subfamily b, member 1 | The end two exons of the two genes overlap SMARCB1 is a tumor suppressor gene that is inactivated in certain malignant rhabdoid tumors |
| (2) AP000350.1 | 7,− | Similar to H. sapiens CGI-101 protein mRNA (AF151859). | |
| (1) bK221G9.4 | 14,+ | Matches EST cluster | Ψg bK221G9.1 and (2) are in and intron of (1) |
| (2) bK243E7.3 | 3,− | Matches EST sequences | |
| (1) DJ268D13.2 | 1,+ | Similar to Sw:P25112 H. sapiens 40S ribosomal protein S28 | Gene (1) is in an intron of gene (2) SEZ6L is a membrane protein located in a region that is often deleted in small cell lung cancers and in advanced non-small cell cancers |
| (2) SEZ6L | 15,+ | Seizure related gene 6 (mouse)-like | |
| (1) bK1048E9.5 | 7,+ | Matches EST cluster | An Alu sequence overlaps the 3′ terminal exon of gene (2) |
| (2) bK445C9.6 | 15,− | Similar to mouse tuftelin-interacting protein 10 mRNA AF097181 | |
| (1) HMG1L10 | 1,+ | High mobility group protein 1-like 10 | Gene (1) is intronless |
| (2) TPST2 | 7,− | Tyrosylprotein sulfotransferase 2 | |
| (1) dJ353E16.2 | 4,+ | Matches ESTs | |
| (2) cB42E1.1 | 23,− | Novel protein | |
| (1) CHEK2 | 15,− | Protein kinase Chk2 | Checkpoint protein Chk2 is involved in Li-Fraumeni syndrome (familial cancer and diverse tumor types) and somatic osteosarcoma |
| (2) dJ366L4.2 | 6,+ | Matches ESTs | |
| (1) RFPL1S | 1,− | RET finger protein-like 1 antisense | Gene (1) is intronless |
| (2) RFPL1 | 2,+ | ret finger protein-like 1 | |
| (1) LIF | 3,− | Leukemia inhibitory factor | LIF has the capacity to induce terminal differentiation in leukemic cells Gene (2) is intronless |
| (2) AC004264.3 | 1,+ | H. sapiens clone IMAGE:3355596 | |
| (1) AC004997.11 | 1,− | Human mRNA for KIAA1656 protein | Gene (1) is intronless |
| (2) AC004997.9 | 11,+ | Matches ESTs | |
| (3) SF3A1 | 16,− | Pre-mRNA splicing factor SF3a subunit | |
| (1) AC004542.4 | 2,+ | Matches ESTs | ZNF278 (MAZR) is a transcriptional repressor that undergoes fusion with the Ewing sarcoma gene EWS in small round cell tumors Gene (3) is intronless |
| (2) dJ430N8.1 | 27,− | KIAA0852 | |
| (3) AC005003.5 | 1,+ | H. sapiens clone MGC:15705 | |
| (4) ZNF278 | 4,− | Zinc finger protein 278 | |
| (1) dJ858B16.1 | 32,+ | Human mRNA for KIAA0542 protein | Three Ψgs (bA247I13.5; bA247I13.6; bA247I13.3) are within three different internal introns of gene (1) |
| (2) PISD | 8,− | Phosphatidylserine decarboxylase | |
| (1) cN44A4.2 | 3,− | H. sapiens novel gene | The Ψg bK440B3,1 is in an intron of gene (2) YWHAH is the ɛ isoform of 14-3-3 signal transduction protein and could be associated with neuropsychiatric disorders |
| (2) YWHAH | 2,+ | Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein ɛ | |
| (1) RFPL3 | 2,+ | ret finger protein-like 3 | Two Ψgs (dJ90G24.5 and dJ149A16.5) are immediately 5′ to RFPL3 |
| (2) RFPL3S | 4,− | ret finger protein-like 3 antisense | |
| (1) SYN3 | 14,− | Synapsin-III | TIMP3 is related to Sorsby Fundus dystrophy; a Ψg (dJ309122.3) overlaps with the 3′ terminal exon of TIMP3; two Ψgs (bK415G2.2, dJ302D9.1) are immediately 5′ to SYN3 |
| (2) TIMP3 | 5,+ | Tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy pseudoinflammatory) | |
| (1) UQCRFSL1 | 1,+ | Ubiquinol-cytochrome c reductase Rieske iron-sulfur polypeptide-like 1 | Gene (1) is intronless |
| (2) dJ370M22.3 | 4,− | Similar to human epsin 2a mRNA | |
| (1) MKL1 | 15,− | Megacaryocytic acute leukemia protein | Gene (2) and the Ψg bK229A8.1 are in the same intron of (1); Ψg dJ1042K10.6 is in another intron MLK1 is associated with acute leukemia by translocation t(1;22)(p13,q13) with RBM15 |
| (2) dJ591N18.1 | 2,+ | Cytochrome c oxidase subunit VIb | |
| (1) dJ408N23.2 | 1,− | Similar to mouse Mrj, encodes a DnaJ-related cochaperone that is essential for murine placental development | An Alu sequence overlaps the 3′ terminal exon of gene (2); gene (1) is intronless |
| (2) dJ1057D18.1 | 10,+ | Similar to yeast hypothetical peptidase | |
| (1) dJ756G23.3 | 17,+ | Similar to Tr:Q24191 Drosophila transcriptional repressor protein | |
| (2) dJ756G23.1 | 6,− | Similar to mouse chondroadherin | |
| (1) ACO2 | 18,+ | Aconitase 2, mitochondrial | Aconitase 2 is a tricarboxylic acid (TCA) cycle gene |
| (2) dJ347H13.5 | 7,− | Novel protein similar to yeast DNA-directed RNA pol III 25-kDa subunit | |
| (1) dJ345P10.4 | 32,− | Human mRNA for KIAA1672 protein | Gene (2) and two Ψgs (dJ345P10.1 and dJ388M5.1) are in introns of gene (1) |
| (2) HMG17L1 | 2,+ | High-mobility group (nonhistone chromosomal) protein 17 like | |
| (1) U51561.2 | 1,− | H. sapiens cDNA FLJ32756 fis | Gene (1) is intronless |
| (2) C22orf4 | 13,+ | Similar to Tr:Q92680 | |
| (1) CHKL | 11,− | Choline kinase-like | |
| (2) U62317.15 | 2,+ | Matches ESTs |
Genes associated with diseases in OGGs of Chr 22 are CLTCL1, DVL1L1, COMT, SERPIND1, RTDR1, SMARCB1, SEZ6L, CHEK2, LIF, ZNF278 (MAZR), YWHAH, TIMP3, and MKL1.
*
Partial gene.