DNA repair.
Publisher:
Elsevier,
Frequency: Monthly
Country: Netherlands
Language: English
Start Year:2002 -
ISSN:
1568-7864 (Print)
1568-7856 (Electronic)
1568-7856 (Linking)
1568-7856 (Electronic)
1568-7856 (Linking)
Impact Factor
3.8
2022
| NLM ID: | 101139138 |
| (OCoLC): | 48953587 |
| LCCN: | 2002233074 |
| Classification: | W1 DN125F |
A novel DDB2 mutation causes defective recognition of UV-induced DNA damages and prevalent equine squamous cell carcinoma. Squamous cell carcinoma (SCC) occurs frequently in the human Xeroderma Pigmentosum (XP) syndrome and is characterized by deficient UV-damage repair. SCC is the most common equine ocular cancer and the only associated genetic risk factor is a UV-damage repair protein. Specifically, a missense mutation in horse DDB2 (T338M) was strongly associated with both limbal SCC and third eyelid SCC in three breeds of horses (Halflinger, Belgian, and Rocky Mountain Horses) and was hypothesized to impair binding to UV-damaged DNA. Here, we investigate DDB2-T338M mutant's capacity to recognize UV lesions in ...