On November 14, 2019, Prof. Cao Yunxia and her research team from the Center of Reproductive Medicine, the First Affiliated Hospital of AHMU, published their latest findings online with the prestigious The American Journal of Human Genetics (IF:9.9). The article entitled “Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice” reported TTC29, a gene responsible for the reduced motility and morphology of the sperm, and the biologic implication of its mutation. With this latest article, the research team from Center of Reproductive Medicine has had four successful publications with this journal.
Via the whole-exome sequencing and high-efficiency genomic data analysis, the researchers identified bi-allelic truncating mutations of the TTC29 gene in three cases from a cohort of 80 subjects. Among the three cases, two were from a closely-related family while the other was not. It was found that patients with TTC29 deficiency harbored multiple morphological abnormalities of the flagella and abnormal flagellar ultrastructure. Moreover, the researchers used CRISPR-Cas9 technology to generate a Ttc29-mutated mouse model, through which murine spermatic phenotype and male fertility was studied. Their experimental observations in mice further proved that bi-allelic mutations in TTC29, as an important genetic pathogeny, can induce decreased motility and abnormal morphology in sperms.
As regard to author contribution, Prof. Zhang Feng from Fudan University co-authored this article with Prof. Cao.; First authors include Dr. Liu Chunyu, Liu Wangjie, Wang Lingbo from Obstetrics and Gynecology Hospital of Fudan University, Dr. He Xiaojin from The First Affiliated Hospital of AHMU, and Dr. Yang Shenmin from Suzhou Municipal Hospital. This research also received technical help from Dr. Li Jinsong’s team at Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, and from Center of Cryo-Electron Microscopy of Zhejiang University.
The article now can be accessed at https://www.sciencedirect.com/science/article/abs/pii/S0002929719303982?via%3Dihub