A novel H2A-A127 variant is associated with human cancer and enhances tumor-related phenotypes in Drosophila melanogaster models

1

A recurrent Alanine to Valine substitution at position 127 (H2A-A127V) was identified in Acute Myeloid Leukemia (AML) and solid tumors.
2

H2A-A127V promotes eye tumor phenotypes and intensifies tissue overgrowth in Drosophila melanogaster models.
3

The variant interacts with the Enhancer of zeste (E(z)), suggesting a role in disease progression through PRC2 complex modulation.
4

Analysis of the 1000 Genomes Project revealed H2A-A127V as an uncommon polymorphism (1.44%), potentially predisposing carriers to cancer.
5

The study emphasizes the need to consider duplicated histone genes in mutation analyses to enhance understanding of cancer development.

Frontiers In Oncology

by Zeinab AlHajj Hassan, Hassan Dakik, Patricia Arreba-Tutusaus, Felice Frey, Sarah Mantash, Amanda Mitchell, Meaghan Boileau, Sagi Abelson, Malak Kleit, Zahraa Hayek, Jana Awada, Roy El Darzi, Kolja Eppert, Margret Shirinian
July 13, 2026

1