Related Experiment Video

Updated: Nov 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.0K

Deficiency of TBL1XR1 causes asthenozoospermia

Qiao Zhou1, Miaofei Xu2, Xin Wang3,4

  • 1The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.

Andrologia
|February 2, 2021
PubMed

Insights

Transducin (β)-like 1 X-linked receptor 1 (TBL1XR1) deficiency impairs sperm motility and histone-to-protamine transition in mice. Reduced TBL1XR1 expression correlates with asthenozoospermia in humans, suggesting its role in male fertility.

Area of Science:

  • Reproductive Biology
  • Molecular Genetics
  • Cell Biology

Background:

  • Transducin (β)-like 1 X-linked receptor 1 (TBL1XR1) is an evolutionarily conserved protein.
  • TBL1XR1's specific function in spermatozoa remains largely uncharacterized.

Purpose of the Study:

  • To investigate the role and mechanism of TBL1XR1 in human spermatozoa and mouse models.
  • To explore the potential link between TBL1XR1 and male fertility disorders like asthenozoospermia.

Main Methods:

  • Quantitative reverse transcription PCR (qRT-PCR) for gene expression analysis.
  • Small interfering RNA (siRNA) in a mouse model to assess TBL1XR1 deficiency.
  • Chromatin immunoprecipitation (ChIP) assays to identify downstream genes.

Main Results:

  • TBL1XR1 deficiency in mice led to reduced sperm motility and disrupted histone-to-protamine transition.
  • Human patients with asthenozoospermia showed decreased TBL1XR1 expression in spermatozoa.
  • ChIP analysis revealed downstream genes regulated by TBL1XR1 are involved in sperm motility.

Conclusions:

  • TBL1XR1 plays a significant role in regulating sperm motility.
  • TBL1XR1 may influence male fertility through its downstream gene regulation.
  • These findings offer new molecular insights into male reproductive health and TBL1XR1 function.
Keywords:
TBL1XR1asthenozoospermiainfertilitymotility

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.6K
Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

8.5K

Related Concept Videos

Infertility in Males01:23

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
413
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
105.6K
Spermatogenesis01:41

Spermatogenesis

Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
107.5K
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
7.4K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
57.0K
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
80.0K