Dnah11-KO Mouse

DNAH11, or dynein axonemal heavy chain 11, encodes a protein for cilia and is responsible for the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and are crucial for ciliary motility. This gene is involved in the assembly of respiratory cilia and sperm flagella, and thus plays an important role in related biological processes [2,4,5].

Compound heterozygous variants in DNAH11 were found to cause heterotaxy and congenital heart disease in a Chinese family, broadening the variant spectrum of this gene [1]. In infertile men, seven novel variants in DNAH11 were identified in asthenoteratozoospermia subjects, leading to absence of DNAH11 proteins and sperm flagella ultrastructure defects [2]. Also, DNAH11 variants were significantly associated with congenital heart disease and heterotaxy syndrome, with compound heterozygous variants potentially being a common genetic cause [3]. Moreover, a novel homozygous nonsense variant in DNAH11 was reported in a boy with primary ciliary dyskinesia and situs inversus [5].

In conclusion, DNAH11 is essential for ciliary function, with its variants being associated with multiple diseases such as heterotaxy, congenital heart disease, male infertility, and primary ciliary dyskinesia. Research on DNAH11 provides insights into the genetic basis of these conditions, potentially guiding genetic counseling and offering new perspectives for understanding the mechanisms underlying these diseases.