Dnase1l1-KO Mouse

Dnase1l1, an X-linked DNase I-like gene, is part of the human DNase gene repertoire. The DNase1 family has expanded in vertebrates, and Dnase1l1 acquired a GPI-anchor for plasma membrane attachment in bony fishes. It is likely involved in the degradation of DNA debris, which is crucial for maintaining normal cellular functions in complex multicellular organisms [2].

Some studies related to Dnase1l1 focused on its deletion polymorphism in acid maltase deficiency disorders (Pompe disease). However, no abstract-available references didn't provide clear functional insights from gene-knockout models [1,3]. In uveal melanoma, alternative splicing events of Dnase1l1 were identified as part of prognostic signatures, suggesting its potential role in tumor-related biological processes [4,6]. Also, in systemic lupus erythematosus, the methylation status of Dnase1l1 was found to correlate with disease activity [5].

In summary, Dnase1l1 is an important member of the DNase gene family with potential functions in DNA debris removal. Although direct evidence from gene-knockout mouse models is lacking in the provided references, its associations with diseases like Pompe disease, uveal melanoma, and systemic lupus erythematosus highlight its significance in understanding disease mechanisms. Research on Dnase1l1 may offer new perspectives for disease diagnosis, prognosis, and treatment in these areas.

References:

1. Malferrari, G, Mirabella, M, D'Alessandra, Y, Servidei, S, Biunno, I. . Deletion polymorphism of DNASE1L1, an X-linked DNase I-like gene, in acid maltase deficiency disorders. In Experimental and molecular pathology, 70, 173-4. doi:. https://pubmed.ncbi.nlm.nih.gov/11263960/

2. Mori, Giulia, Delfino, Danila, Pibiri, Paola, Rivetti, Claudio, Percudani, Riccardo. 2022. Origin and significance of the human DNase repertoire. In Scientific reports, 12, 10364. doi:10.1038/s41598-022-14133-w. https://pubmed.ncbi.nlm.nih.gov/35725583/

3. Lichtenbelt, Klaske D, Sinke, Richard J, Ausems, Margreet G E M, Reuser, Arnold J J, Wokke, John J H. 2006. Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease). In Experimental and molecular pathology, 80, 308-9; author reply 310. doi:. https://pubmed.ncbi.nlm.nih.gov/16569403/

4. Xie, Xinyi, Zheng, Xinhua, Xie, Tianhua, Cai, Jiping, Yao, Yong. 2021. Identification of prognostic alternative splicing signatures in uveal melanoma. In International ophthalmology, 41, 1347-1362. doi:10.1007/s10792-021-01699-z. https://pubmed.ncbi.nlm.nih.gov/33479809/

5. Jeffries, Matlock A, Dozmorov, Mikhail, Tang, Yuhong, Wren, Jonathan D, Sawalha, Amr H. 2011. Genome-wide DNA methylation patterns in CD4+ T cells from patients with systemic lupus erythematosus. In Epigenetics, 6, 593-601. doi:. https://pubmed.ncbi.nlm.nih.gov/21436623/

6. Zhou, Wenchuan, Fei, Ping, Li, Jing. 2021. Identification of Prognostic alternative splicing signatures and their clinical significance in uveal melanoma. In Experimental eye research, 209, 108666. doi:10.1016/j.exer.2021.108666. https://pubmed.ncbi.nlm.nih.gov/34129849/