Atxn1l-KO Mouse

Atxn1l, also known as ataxin 1-like, is a protein-coding gene. It interacts with CIC to form a transcription repressor complex, which is involved in regulating the expression of downstream genes, such as those in the PEA3 family (ETV1/4/5) [1]. It is also part of the ATXN1L-CIC-ETS transcription factor axis that mediates resistance to MAPK pathway inhibitors in cancer cells [2].

In some cancers, novel ATXN1L-NUTM2A fusions have been identified in aggressive infant sarcomas. These fusions may disrupt the interaction between ATXN1L and CIC, leading to overexpression of downstream PEA3 family genes. This finding may expand the scope of "CIC-rearranged" sarcomas [1]. In addition, ATXN1L deletion, which reduces CIC protein, can modulate sensitivity to the MEK1/2 inhibitor trametinib in cancer cells [2]. In coronary microembolization-induced myocardial injury, miR-142-3p can attenuate injury via the ATXN1L/HDAC3/NOL3 axis. ATXN1L promotes deacetylation of H3 through HDAC3 and thus inhibits NOL3 expression, affecting cardiomyocyte apoptosis and pyroptosis [3].

In conclusion, Atxn1l plays a crucial role in multiple biological processes, especially in the regulation of gene expression through its interaction with CIC. Its dysregulation is associated with certain cancers and myocardial injury. Studies on Atxn1l, including gene-knockout models in relevant research, help to understand the underlying molecular mechanisms of these diseases, providing potential directions for diagnosis and treatment.