Genomic coordinate (human 13:48,303,751 RB1).
Cytoband (human 13q14.2 RB1).
Here I 🎁 present: “RB1 Pleiotropy on 13q14.2″, Victor McKusick, Mendelian Inheritance in Man, 1966. (RB1)
The ABOVE infographic illustrates RB1 Pleiotropy on chromosome 13q14.2, demonstrating how abnormalities or mutations in a single gene can produce multiple, seemingly unrelated phenotypic traits or clinical pathologies.
Key Elements’ of the Diagram
Central Driver (RB1 at 13q14.2): The RB1 gene is a well-known tumor suppressor gene located on the long (q) arm of chromosome 13 at position 14.2. It encodes a protein that acts as a gatekeeper, regulating cell division and preventing tumors.
Pleiotropic Effects (The Mountain Graph): The continuous mathematical surface maps out how a lone genetic locus branches out to influence several distinct forms of malignancy.
Associated Cancers Shown.
When the tumor-suppressing function of the RB1 gene is lost, it predisposes individuals to or drives the development of various independent malignancies, including:
Small-Cell Lung Carcinoma
Breast Cancer
Bladder Cancer
Glioblastoma
Osteosarcoma.
