Repetición LINE-L1: Estructura, organización, genes y su asociación con la poliposis adenomatosa familiar
Year: 2024
Type: article
Abstract: Background: Familial adenomatous polyposis (FAP) is part of the gastrointestinal polyposis syndromes, with an incidence of approximately 1/8300 live births annually. Although most polyps tend to be benign and asymptomatic, this condition is clinically significant due to its association with the progression to colorectal cancer. However, the literature on this pathology, the genes, or their regulatory mechanisms involved is scarce. Objective: To explore the main genes associated with FAP, with an emphasis on LINE/L1 repetitive regions due to their regulatory role. Materials and Methods: Bioinformatics programs and genomic databases such as MalaCards and NCBI were used to obtain related genes, and platforms like Genome Browser, OMIM, and proprietary algorithms were used to define their characteristics in context of the disease based on these elements. Results: Ninety-two coding genes were found, of which 54% contain LINE-L1 repeats. Among these, PACRG and SYNE1 contain the highest number of repeats, with PACRG having the most, with a total of 297 repeats. Additionally, the genes DVL2, PCRG, and CDKN2A-DT were noted for their high deleterious variability. Conclusions: Genes containing LINE-L1 repeats such as SYNE1, PACRG, SERPINE1, PTGS1, DVL2, SAPCD2, and some others identified, although not currently described in the literature as associated with this disease, may correspond to predisposition factors for releated to Adenomatous Polyposis due to their high relation to cancerous processes.
Source: Salutem Scientia Spiritus
Institution: Pontificia Universidad Javeriana
Language: Spanish
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7215622576