Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects

• 作者: Bing Song Chunyu Liu Yang Gao Jordan Lee Marley Weiyu Li Xiaoqin Ni Wangjie Liu Yujie Chen Jiajia Wang Chao Wang Ping Zhou Zhaolian Wei Xiaojin He Feng Zhang Yunxia Cao
• 来源期刊: 遗传学报
• 年，卷（期）: 2020,（11）
• 所属期刊栏目: Letter to the Editor
• 页码范围: 713-717
• 页数: 5页
• 语种: 英文

摘要

The axoneme of the human sperm has a very similar ultrastruc-ture to motile cilia,the "9 + 2" structure,comprising nine periph-eral double microtubules plus two central pairs (Nicastro et al.,2006;Ishikawa,2017).A proteomics analysis identified more than 700 proteins exclusively in the sperm tail,and abnormal expression of related genes can cause male infertility with multiple morpho-logical abnormalities of flagella (MMAF),including absent,coiled,short,and irregular-caliber flagella (Baker et al.,2013;Coutton et al.,2015).Whole-exome sequencing (WES) results identified numerous pathogenic genes associated with MMAF,demonstrating the genetic heterogeneity of MMAF (Yang et al.,2015;Wang et al.,2020).However,these variants only explain approximately two-thirds of all MMAF cases,indicating that other genetic causes and pathogenic mechanisms of MMAF need to be investigated.