Genomic coordinate 8:94,371,960
Here I present: “Colon Cancer”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RAD54) 結腸癌。icd10=C18.7
INTRODUCTION.
Enzyme Commission number EC 5.6.2.3 is RAD54, a member of the Snf2/Swi2 superfamily is part of a complex involved in the recombinational repair of DNA damage.
RAD54 is a dsDNA-dependent ATPase of the Snf2/Swi2 family of SF2 helicases, although RAD54 lacks classical helicase activity and cannot carry out the strand displacement reactions typical for DNA helicases. RAD54 is a potent and processive motor protein that translocates on dsDNA.
RAD54 protein is a member of the Swi2/Snf2 family of dsDNA-dependent ATPases and processively translocates along the dsDNA lattice at up to 300 bp/sec.
Homologous recombination (HR) helps maintain genome integrity, and HR defects give rise to disease, especially cancer.
There is evidence that colon cancer can be caused by mutation in the RAD54 type-B (RAD54B) gene on cytogenetic location 8q22.1 and genomic coordinates 8:94,371,960-94,475,115. The screenshot of the RAD54B gene 103,156 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides RAD54 in the 8q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:93,754,844 | TMEM67 | Transmembrane protein 67 (meckelin) |
| 8:93,916,923 | PDP1 | Pyruvate dehydrogenase phosphatase 1 |
| 8:94,127,162 | CDH17 | Cadherin-17, liver-intestine |
| 8:94,249,253 | GEM | GTP-binding protein overexpressed in skeletal muscle |
| 8:94,371,960 | RAD54B | RAD54 homolog B |
| 8:94,427,716 | FSBP | Fibrinogen silencer-binding protein |
| 8:94,487,689 | VIRMA | VIR-like M6A methyltransferase-associated protein |
| 8:94,641,174 | ESRP1 | Epithelial splicing regulatory protein 1 |
| 8:94,719,900 | DPY19L4 | DPY19-like 4 |
| 8:94,823,287 | INTS8 | Integrator complex subunit 8 |
