HOX genes: molecular genetics and effect of mutation

Rezka, Hassan M.; Sakr, Hader I.; Ismaile, Abeer O.; Almowallad, Alaa A.; Almaqboule, Taif M.; Alqawlaq, Abdulelah K.; Albassame, Joud A.; Bukharie, Abdulaziz A.; Almoshawar, Hadi H.

doi:10.21608/epj.2025.402029

HOX genes: molecular genetics and effect of mutation

Authors

¹ Department of Anatomy & Embryology, Mansoura University, Mansoura,

² Department of Medical Physiology, Kasr Al-Aini Faculty of Medicine, Cairo University, Cairo, Egypt

³ General surgery Department, General Medicine Practice Program, Batterjee Medical College, Jeddah, Saudi Arabia

10.21608/epj.2025.402029

Abstract

In vertebrates, the axial skeleton, limbs, stomach, urogenital tract, and external
genitalia all develop partly controlled by the homeobox-containing HOX gene
families, which are deeply conserved throughout animal evolution. Much
knowledge has been learned about the functions of HOX genes in many
physiological and pathologic processes since their original discovery. There are
39 HOX genes in mammals, separated into the HOX A, B, C, and D clusters. Thirtynine
homeobox genes in mammals are clustered into four clusters: HOX A–D, with
a correlation between mutations of HOXB13, most often G84E, with breast,
colorectal, and early-onset prostate cancer in humans. Here, we discuss the
current knowledge of homeobox signaling in genitourinary development and
cancer and the role of homeobox protein cofactors in both development and cancer

Keywords