A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency.

Journal of Assisted Reproduction and Genetics
Fengsong WangFuxi Zhu

Abstract

To identify the pathogenic PLCZ1 mutation involved in male infertility and fertilization failure. All coding regions of PLCZ1 were sequenced by Sanger sequencing. The expression and localization of PLCZ1 in sperm was determined by Western blotting and immunofluorescence. To promote the fertilization rate, the infertile man with PLCZ1 mutation was treated with intracytoplasmic sperm injection (ICSI) accompanied by assisted oocyte activation (AOA) in the following cycle. We identified a novel homozygous PLCZ1 nonsense mutation, c.588C>A (p.Cys196Ter) in an infertile man from a consanguineous family. No PLCZ1 protein was detected by Western blotting and immunofluorescence in ejaculated sperm from the patient. The treatment of ICSI + AOA avoided fertilization failure but did not result in pregnancy in the following cycle. Our study confirmed the essential role of PLCZ1 in fertilization and male fertility, which indicated the potential prognostic value of testing for PLCZ1 mutations in primary infertile men with sperm-derived fertilization failure.

References

Jul 1, 1993·Human Reproduction·A C Van SteirteghemP Devroey
Apr 4, 2006·Seminars in Cell & Developmental Biology·Tom DucibellaJean-Pierre Ozil
Nov 22, 2007·Developmental Biology·Manabu KurokawaRafael A Fissore
Mar 3, 2009·Asian Journal of Andrology·Ye BiJia-Hao Sha
Apr 28, 2009·Fertility and Sterility·Mohammad Hossein Nasr-EsfahaniMarziyeh Tavalaee
Jun 25, 2010·Human Reproduction Update·J KashirK Coward
Apr 24, 2014·Journal of Assisted Reproduction and Genetics·Hoi Chang LeeTeru Jellerette-Nolan
Jun 28, 2014·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mahmoud AarabiRichard Oko
May 20, 2015·Journal of Assisted Reproduction and Genetics·Mercè DurbanRita Vassena
Nov 6, 2015·Genome Biology·Anas M AlazamiFowzan S Alkuraya
Sep 20, 2016·American Journal of Human Genetics·Fuxi ZhuYunxia Cao
Oct 16, 2016·Journal of Assisted Reproduction and Genetics·Konstantinos A EconomouDimitris Loutradis
Apr 3, 2018·American Journal of Human Genetics·Qing SangLei Wang
Jul 24, 2018·American Journal of Human Genetics·Fuxi ZhuWei Li
Mar 4, 2019·Journal of Assisted Reproduction and Genetics·Xiaoyu YangJiayin Liu
Jul 28, 2019·Human Reproduction·Marc Torra-MassanaRita Vassena
Aug 21, 2019·Journal of Assisted Reproduction and Genetics·Xiaopei ZhouXianqin Zhang

❮ Previous
Next ❯

Citations

Dec 5, 2020·Journal of Clinical Medicine·Arantxa Cardona BarberánBjörn Heindryckx
Jun 16, 2021·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Miaomiao JiaXia Xue

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.