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In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Screening Sperm for the Rapid Isolation of Germline Edits in Zebrafish

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Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice.

Yao-Qiang Du^1,2, Chong-Yi Shu³, Min Zheng³

¹Laboratory Medicine Center, Department of Transfusion Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310014, China.

Current Medical Science

|March 27, 2023

Summary

A novel variant in the PICK1 gene causes male infertility by disrupting sperm development and mitochondrial function. This PICK1 gene defect leads to azoospermia or asthenospermia in both mice and humans.

Keywords:

PICK1 azoospermia knockout mice mitochondrial dysfunction truncating variant

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Last Updated: Aug 5, 2025

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Published on: February 10, 2023

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Published on: July 14, 2016

Area of Science:

Reproductive biology
Genetics
Cell biology

Background:

The protein interacting with C kinase 1 (PICK1) is essential for vesicle trafficking.
PICK1 deficiency in sperm disrupts Golgi-to-acrosome vesicle transport, impairing acrosome formation and causing male infertility.

Purpose of the Study:

To investigate the role of a novel homozygous variant (c.364delA) in the PICK1 gene in male infertility.
To establish and analyze a PICK1 knockout mouse model to understand its impact on sperm function.

Main Methods:

Sequencing of the PICK1 gene in an azoospermia patient identified a novel homozygous variant (c.364delA).
A PICK1 knockout mouse model was generated using CRISPRc technology for functional analysis.

Main Results:

PICK1 knockout mice exhibited sperm abnormalities, including acrosome and nucleus defects, and impaired mitochondrial sheath formation.
Significantly reduced sperm counts and motility were observed in PICK1 knockout mice compared to wild-type.
Mitochondrial dysfunction was confirmed in the sperm of knockout mice, correlating with infertility.

Conclusions:

The novel c.364delA variant in the PICK1 gene is associated with clinical male infertility.
Pathogenic variants in PICK1 can lead to azoospermia or asthenospermia by impairing mitochondrial function.
These findings highlight PICK1's crucial role in human and murine male fertility.