DNAH10, short for dynein axonemal heavy chain 10, encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. It is crucial for ciliary and flagellar function, with its associated pathways likely involving those related to cilia-mediated processes. Genetic models, such as mouse models, are valuable for studying its functions [2].

In human and mouse models, DNAH10 deficiency has been shown to cause primary ciliary dyskinesia (PCD). A novel DNAH10 homozygous variant in a PCD patient led to sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining and electron microscopy revealed absence of related proteins and axoneme defects. Dnah10-knockin and-knockout mice recapitulated PCD phenotypes including chronic respiratory infection, male infertility, and hydrocephalus [2]. Also, bi-allelic DNAH10 variants in humans and mice cause asthenoteratozoospermia and male infertility due to sperm flagellar defects, specifically inner dynein arm deficiency [1,3].

In conclusion, DNAH10 is essential for the assembly and function of sperm flagella and motile cilia. The study of Dnah10-KO and-CKO mouse models has significantly contributed to understanding its role in diseases like PCD and male infertility, providing insights into the genetic basis and potential therapeutic strategies for these conditions.

References:

1. Li, Kuokuo, Wang, Guanxiong, Lv, Mingrong, He, Xiaojin, Cao, Yunxia. 2021. Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility. In Journal of assisted reproduction and genetics, 39, 251-259. doi:10.1007/s10815-021-02306-x. https://pubmed.ncbi.nlm.nih.gov/34657236/

2. Wang, Rongchun, Yang, Danhui, Tu, Chaofeng, Qing, Jie, Luo, Hong. 2023. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice. In Frontiers of medicine, 17, 957-971. doi:10.1007/s11684-023-0988-8. https://pubmed.ncbi.nlm.nih.gov/37314648/

3. Tu, Chaofeng, Cong, Jiangshan, Zhang, Qianjun, Cao, Yunxia, Tan, Yue-Qiu. 2021. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. In American journal of human genetics, 108, 1466-1477. doi:10.1016/j.ajhg.2021.06.010. https://pubmed.ncbi.nlm.nih.gov/34237282/