CXCR4

Type

Gene (protein-coding, chemokine receptor)

Description

CXCR4 (C-X-C Motif Chemokine Receptor 4) encodes a G-protein coupled receptor that binds the chemokine CXCL12 (SDF-1). It regulates hematopoietic stem cell homing and retention in the bone marrow. In the WHIM-09 case (McDermott et al., 2015), a chromothriptic event deleted a mutant CXCR4 allele in a single hematopoietic stem cell, which then repopulated the bone marrow and restored normal immune function — a spontaneous cure of WHIM syndrome. This is the canonical example of a beneficial hopeful monster in somatic evolution.

External identifiers

• HGNC: 2561
• NCBI Gene: 7852
• UniProt: P61073

Wiki sources

• mcdermott2015-chromothriptic-cure-whim — Chromothriptic cure of WHIM syndrome via CXCR4 deletion