JRKL

JRKL Full Name

jerky homolog-like (mouse)

JRKL Introduction

JRKL (jerky homolog-like) is a poorly characterized human gene on chromosome 11q21 that encodes a protein with limited homology to the Drosophila DNA-binding factor jerky. The gene is expressed predominantly in the brain, with high levels in the cerebellum, cerebral cortex, and hippocampus, and lower levels in non-neural tissues. Although its molecular function remains incompletely understood, JRKL contains a putative helix–turn–helix domain and has been implicated in neuronal development and in the response to DNA damage.

Figure 1. The structure of JRKL.

Putative Roles in Neuronal Transcription and DNA-Damage Responses
JRKL is most highly expressed in post-mitotic neurons, where it is thought to act as a sequence-specific DNA-binding factor that modulates transcription of genes involved in synaptic plasticity and cytoskeletal organization. Its predicted helix–turn–helix motif resembles that of the centromere-binding protein CENP-B, suggesting possible chromatin-associated activity. Loss-of-function screens in cell lines have reported modest JRKL-dependent changes in the efficiency of DNA double-strand-break repair, raising the possibility that JRKL contributes to neuronal genome maintenance in post-mitotic cells, which are otherwise highly vulnerable to genotoxic stress.

Neurodevelopmental Associations
Although the literature on JRKL is limited, large-scale exome sequencing studies have occasionally flagged rare JRKL variants in patients with neurodevelopmental phenotypes, including speech delay and mild intellectual disability. The functional significance of these variants remains to be established, but the restricted expression of JRKL to the central nervous system is consistent with a potential role in higher-order cognitive function. Continued case–control sequencing and the development of JRKL-deficient model systems will be required to clarify the gene's contribution to human disease.

Alternate Names for JRKL

JRKL; jerky homolog-like (mouse); erky (mouse) homolog like; jerky protein homolog-like; HHMJG; human homolog of mouse jerky gene protein; MGC129608;

• 1.Pangon L, Ng I, Giry-Laterriere M, et al. JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer. Oncogene, 2016, 35(22): 2834-2841.