Related Experiment Video
Updated: Feb 15, 2026
06:11
Author Spotlight: Exploring the Long-Term Health Impacts of Intracytoplasmic Sperm Injection on Offspring
Published on: May 17, 2024
1.2K
DNAH14 deficiency disrupts sperm annulus positioning and compromises offspring postnatal development
Xiang Wang1, Gan Shen1, Jinhui Li2
1Department of Obstetrics/Gynecology, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, West China Second University Hospital, Sichuan University, Chengdu, China.
Human Reproduction (Oxford, England)
|February 13, 2026
Summary
DNAH14 deficiency disrupts sperm structure and motility, leading to male infertility in humans and mice. This gene is crucial for sperm flagellar integrity and annulus positioning.
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Biology
Background:
- Pathogenic variants in axonemal dynein heavy chain (DNAH) genes are linked to male infertility and primary ciliary dyskinesia.
- DNAH14's role in male fertility was previously undefined.
Purpose of the Study:
- To investigate the role of DNAH14 deficiency in sperm flagellar integrity and male infertility.
- To establish genotype-phenotype associations for DNAH14 variants.
Main Methods:
- Genetic analysis of infertile men using whole-exome sequencing.
- Generation and analysis of a CRISPR-Cas9 Dnah14 knockout (KO) mouse model.
- Sperm morphology, motility, and flagellar structure analysis (SEM, TEM, immunofluorescence, CASA).
Main Results:
- Biallelic DNAH14 variants identified in two infertile men with asthenoteratozoospermia.
- DNAH14 deficiency caused disrupted sperm annulus positioning, mitochondrial disorganization, and reduced motility in humans and mice.
- Dnah14 KO mice showed subfertility with sperm defects, but non-reproductive tissues were unaffected.
Conclusions:
- DNAH14 is essential for sperm flagellar architecture, annulus positioning, and male fertility.
- DNAH14 deficiency leads to impaired sperm function and male infertility.
- DNAH14 may influence offspring development via sperm epigenetic mechanisms.
Related Concept Videos
01:15Sperm Transport
3.7K
The journey of sperm from its origin to the point of ejaculation begins within the seminiferous tubules of the testis. Here, Sertoli cells produce fluid that propels non-motile sperm through a series of conduits, starting with the straight tubules leading to the rete testis. This interconnected network of tubules acts as the initial pathway for sperm, guiding them into the efferent ductules and then into the epididymis for maturation.
The maturation phase occurs in the epididymis, where sperm...
The maturation phase occurs in the epididymis, where sperm...
3.7K
02:33Seed Structure and Early Development of the Sporophyte
31.3K
Seed structures are composed of a protective seed coat surrounding a plant embryo, and a food store for the developing embryo. The embryo contains the precursor tissues for leaves, stem, and roots. The endosperm and cotyledons—seed leaves—act as the food reserves for the growing embryo.
31.3K
02:32Position-effect Variegation
7.1K
In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
7.1K
01:22Sperm Structure and Semen Composition
11.6K
During ejaculation, males release around 2-5 milliliters of semen, which is a complex mixture of mature sperm and various fluids produced by accessory glands. The mature sperm cells measure approximately 60 micrometers in length and consist of a head, neck, midpiece, and tail. The head is flattened and tapered, measuring about 4 to 5 micrometers in length. It contains a nucleus with condensed chromosomes and an acrosome, a cap-like structure filled with enzymes essential for penetrating the...
11.6K
01:31Position and Displacement
27.2K
The position of an object defines its location relative to a convenient frame of reference at any particular time. A frame of reference is an arbitrary set of axes from which the position and motion of an object are described. Earth is often used as a frame of reference, and we often describe the position of an object as it relates to stationary objects on Earth. For example, a rocket launch could be described in terms of the position of the rocket with respect to Earth as a whole. On the other...
27.2K
01:03Serial Position Effect
567
The serial position effect is a cognitive phenomenon where individuals are more likely to recall the first and last items in a list compared to those in the middle. This effect is divided into the primacy effect and the recency effect. The primacy effect is observed when the initial items in a list are remembered better. This occurs because these items are rehearsed more frequently or receive more elaborative processing, allowing them to be encoded into long-term memory more effectively. For...
567