RNA-binding proteins in human genetic disease.

Area of Science:

• Molecular Biology
• Genetics
• Biochemistry

Background:

• RNA-binding proteins (RBPs) are crucial regulators of gene expression, impacting cellular homeostasis through extensive regulatory networks.
• Recent discoveries have identified thousands of RBPs, revealing disordered regions involved in organelle formation and links between metabolism and RNA regulation.

Purpose of the Study:

• To provide an overview of RBPs implicated in human genetic disorders, including Mendelian and somatic conditions.
• To discuss emerging research on the molecular mechanisms of RBP function in disease.
• To highlight therapeutic interventions targeting RBPs in malignancies.

Main Methods:

• System-wide identification of RBPs.
• Analysis of RBP structure and function.
• Review of literature on RBPs in genetic disorders and cancer.

Main Results:

• RBPs play a significant role in both inherited (Mendelian) and acquired (somatic) human genetic disorders.
• Structurally disordered regions in RBPs are prevalent and involved in forming membraneless organelles.
• Connections between intermediary metabolism and RNA regulation by RBPs are increasingly recognized.

Conclusions:

• Dysfunctional RBPs are implicated in numerous diseases, particularly malignancies.
• Insights into RBP molecular mechanisms are driving the development of novel therapeutic strategies.
• Targeting RBPs offers promising avenues for treating genetic disorders and cancers.