DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella

Clinical Genetics
Yang LiZhongxian Lu

Abstract

Multiple morphological abnormalities of flagella (MMAF) is one kind of severe teratozoospermia. Gene mutations reported in previous works only revealed the pathogenesis of approximately half of the MMAF cases, and more genetic defects in MMAF need to be explored. In the present study, we performed a genetic analysis on Han Chinese men with MMAF using whole-exome sequencing. After filtering out the cases with known gene mutations, we identified five novel mutation sites in the DNAH2 gene in three cases from three families. These mutations were validated through Sanger sequencing and absent in all control individuals. In silico analysis revealed that these DNAH2 variations are deleterious. The spermatozoa with DNAH2 mutations showed severely disarranged axonemal structures with mitochondrial sheath defection. The DNAH2 protein level was significantly decreased and inner dynein arms were absent in the spermatozoa of patients. ICSI treatment was performed for two MMAF patients with DNAH2 mutations and the associated couples successfully achieved pregnancy, indicating good nuclear quality of the sperm from the DNAH2 mutant patients. Together, these data suggest that the DNAH2 mutation can cause severe sperm flagella defects that dam...Continue Reading

References

Mar 28, 2008·Histochemistry and Cell Biology·Peter Satir, Søren T Christensen
Jun 26, 2013·American Journal of Respiratory and Critical Care Medicine·Michael R KnowlesMargaret W Leigh
Apr 19, 2015·Human Reproduction Update·Charles CouttonPierre F Ray
Aug 13, 2015·Scientific Reports·Xiaopeng HuZhongxian Lu
Apr 12, 2016·Biopolymers·Helgo Schmidt, Andrew P Carter
Nov 3, 2016·Cold Spring Harbor Perspectives in Biology·Stephen M King
Apr 3, 2018·American Journal of Human Genetics·Frederick N DongCharles Coutton
Jul 31, 2018·Journal of Molecular Cell Biology·Yirong ZhangXueliang Zhu

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Citations

Jun 20, 2020·Journal of Human Genetics·Yanwei ShaShaobin Lin
Nov 30, 2019·Cellular and Molecular Life Sciences : CMLS·Anu SironenHannah M Mitchison
Jan 18, 2020·Human Genetics·Aminata TouréCharles Coutton
Oct 27, 2020·Frontiers in Endocrinology·Robert John Aitken, Mark A Baker
Nov 17, 2020·Best Practice & Research. Clinical Endocrinology & Metabolism·Chaofeng TuYue-Qiu Tan
Mar 12, 2021·Acta Biochimica Et Biophysica Sinica·Mingxiang WengHuiliang Zhou
Jun 15, 2021·Frontiers in Cell and Developmental Biology·Bingbing WuHongbin Liu
Aug 18, 2021·Molecular Genetics & Genomic Medicine·Sarah DuerinckxMarc Abramowicz
Jan 25, 2022·Cellular and Molecular Life Sciences : CMLS·Xiaoli WangShuiqiao Yuan

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