Work

IQ motif family genes in male infertility: pathogenesis, mechanisms, and clinical perspectives

Year: 2026

Type: article

Abstract: This review examines the critical role of IQ motif family genes in male infertility. Characterized by conserved calmodulin-binding IQ domains, these genes, including IQUB, IQCN, and IQCH, exhibit reproductive tissue-specific expression and regulate fundamental processes in spermatogenesis and sperm function, such as Ca 2 ⁺ signaling, cytoskeletal dynamics, and RNA splicing. Specific loss-of-function mutations are strongly linked to distinct clinical phenotypes: IQUB variants to asthenozoospermia, IQCN mutations to total fertilization failure, and IQCH deficiency to azoospermia. The article discusses emerging diagnostic applications, including genetic screening via whole-exome sequencing and the evaluation of sperm protein biomarkers like IQCD. Furthermore, it outlines mechanism-informed therapeutic strategies, from clinically applied artificial oocyte activation for IQCN defects to preclinical explorations of gene correction. The synthesis underscores how research on this gene family is advancing the field toward precision medicine in male infertility.

Source: Frontiers in Reproductive Health

DOI: 10.3389/frph.2025.1719934

Authors: Peng Zhang, Sai Lu, Hui Qian, Jiu Yin, Haiying Peng, Hemei Li

Institutions: Central Hospital of Wuhan, Huazhong University of Science and Technology, Hubei University of Medicine

Language: English

Topic: Sperm and Testicular Function

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,077