Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

Teratogenicity

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

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.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026

Same author

Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center.

Frontiers in immunology·2026

Same author

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.

Lupus science & medicine·2026

Same author

Building genomic medicine in Saudi Arabia.

Nature genetics·2026

Same author

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review.

Frontiers in immunology·2026

Same author

Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in <i>ZAP70</i> deficiency: a single-center experience.

Frontiers in immunology·2025

Same journal

Somatic mobility of transposons is explosive and shaped by distinct integration biases in Arabidopsis thaliana.

Genome biology·2026

Same journal

UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.

Genome biology·2026

Same journal

A one-week automated genome-wide optical pooled screen using OttoSeq.

Genome biology·2026

Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026

Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026

Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Mar 30, 2026

Assessing Teratogenic Changes in a Zebrafish Model of Fetal Alcohol Exposure

Assessing Teratogenic Changes in a Zebrafish Model of Fetal Alcohol Exposure

Published on: March 20, 2012

TLE6 mutation causes the earliest known human embryonic lethality.

Anas M Alazami¹, Salma M Awad², Serdar Coskun³

¹Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

|November 6, 2015

Summary

This summary is machine-generated.

A mutation in the TLE6 gene causes the earliest known human embryonic lethality, leading to female infertility. This maternal effect gene defect prevents early embryonic development after fertilization.

More Related Videos

Dissection of 6.5 dpc Mouse Embryos

Dissection of 6.5 dpc Mouse Embryos

Published on: February 25, 2007

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Mar 30, 2026

Assessing Teratogenic Changes in a Zebrafish Model of Fetal Alcohol Exposure

Assessing Teratogenic Changes in a Zebrafish Model of Fetal Alcohol Exposure

Published on: March 20, 2012

Dissection of 6.5 dpc Mouse Embryos

Dissection of 6.5 dpc Mouse Embryos

Published on: February 25, 2007

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

Genetics
Developmental Biology
Reproductive Medicine

Background:

Embryonic lethality is a known outcome of gene mutations in model organisms.
Identifying human embryonic lethal genes, particularly those affecting preimplantation development, remains a significant challenge.

Purpose of the Study:

To identify novel human embryonic lethal genes using a consanguineous population.
To investigate the genetic basis of female-limited infertility linked to early embryonic arrest.

Main Methods:

Autozygosity mapping was employed to identify homozygous regions in affected families.
Whole exome sequencing was utilized to pinpoint causative mutations.
Functional analysis investigated the impact of the mutation on TLE6 protein activity.

Main Results:

A novel homozygous mutation in the TLE6 gene was identified in two families with female infertility.
The TLE6 mutation disrupts phosphorylation and binding within the subcortical maternal complex.
Homozygous mutation carriers exhibit a failure of early embryonic cleavage, resulting in sterility.

Conclusions:

This study reports the first human defect in a subcortical maternal complex gene, TLE6.
The identified TLE6 mutation causes gender-specific, early preimplantation embryonic lethality in humans.
This finding expands our understanding of the genetic regulation of early human development.