
IQCHはカルモジュリンと結合し、RNA結合タンパク質の発現を調節することで、精子形成に重要な役割を果たす。


coremsg

IQ motif-containing proteins can be recognized by calmodulin (CaM) and are essential for many biological processes. However, the role of IQ motif-containing proteins in spermatogenesis is largely unknown. In this study, we identified a loss-of-function mutation in the novel gene IQ motif-containing H ( IQCH ) in a Chinese family with male infertility characterized by a cracked flagellar axoneme and abnormal mitochondrial structure. To verify the function of IQCH, Iqch -knockout mice were generated via CRISPR-Cas9 technology, which reproduced human phenotypes. Mechanistically, IQCH can bind to CaM and subsequently regulate the expression of RNA-binding proteins (especially HNRPAB), which are indispensable for spermatogenesis. Overall, this study revealed the function of IQCH, expanded the role of IQ motif-containing proteins in reproductive processes, and provided important guidance for genetic counseling and genetic diagnosis of male infertility.

### Competing Interest Statement

The authors have declared no competing interest.

IQCH regulates spermatogenesis by interacting with CaM to promote the expression of RNA-binding proteins

男性不妊症の原因遺伝子iqch-の機能解明-カルモジュリンとの相互作用によるrna結合タンパク質の発現調節が精子形成に重要


男性不妊症の原因遺伝子IQCH の機能解明 - カルモジュリンとの相互作用によるRNA結合タンパク質の発現調節が精子形成に重要
