Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

18.4K
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...
18.4K
Incomplete Dominance01:43

Incomplete Dominance

30.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.5K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

18.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.8K
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

76.7K
Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
76.7K
Mismatch Repair01:20

Mismatch Repair

6.7K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
6.7K

You might also read

Related Articles

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

Sort by
Same author

A complete diploid human genome benchmark for personalized genomics.

bioRxiv : the preprint server for biology·2025
Same author

Overcoming limitations to customize DeepVariant for domesticated animals with TrioTrain.

Genome research·2025
Same author

Examination of the lung and lymphoid tissue mRNA transcriptome response in dairy calves following experimental challenge with bovine alphaherpesvirus one (BoHV-1).

PloS one·2025
Same author

Genome-wide association analyses identify single nucleotide polymorphisms associated with in vitro embryo cleavage and blastocyst rates in Holstein bulls.

Journal of dairy science·2025
Same author

From reactive to proactive: impact of artificial intelligence on management and selection of livestock.

Animal frontiers : the review magazine of animal agriculture·2025
Same author

Biomarker-based high-throughput sperm phenotyping: Andrology in the age of precision medicine and agriculture.

Animal reproduction science·2024

Related Experiment Video

Updated: Feb 20, 2026

The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

8.4K

Candidate lethal haplotypes and causal mutations in Angus cattle.

Jesse L Hoff1, Jared E Decker1,2, Robert D Schnabel1,2

  • 1Division of Animal Sciences, University of Missouri, Columbia, MO, 65211, USA.

BMC Genomics
|October 20, 2017
PubMed
Summary
This summary is machine-generated.

High inbreeding in cattle reduces fertility. Researchers identified seven candidate lethal haplotypes in Angus cattle, enabling selective breeding strategies to improve reproductive fitness and genetic gain.

Keywords:
Autosomal recessivesImputationInbreedingLethal HaplotypesPhasing

More Related Videos

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.6K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

8.1K

Related Experiment Videos

Last Updated: Feb 20, 2026

The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

8.4K
Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.6K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

8.1K

Area of Science:

  • Animal genetics
  • Livestock breeding
  • Population genetics

Background:

  • High inbreeding rates in livestock negatively impact reproductive fitness.
  • Historical selection in beef cattle has increased fatal autosomal recessive polymorphisms and decreased genome-wide haplotypic diversity.
  • Identifying unobserved homozygous haplotypes can localize developmentally lethal recessive loci without observing phenotypes.

Purpose of the Study:

  • To identify candidate loci for developmentally lethal recessive alleles in Angus cattle.
  • To localize these loci by identifying haplotypes not observed in homozygous form despite expected frequencies.
  • To provide a method for managing genetic defects without phenotype observation.

Main Methods:

  • Haplotypes were estimated for 3961 Angus individuals using 52,545 SNP loci with findhap v2.
  • Seven loci with unobserved homozygous haplotypes were identified.
  • 109 individuals were resequenced, and whole-genome sequence imputation was performed to identify candidate lethal recessive variants.

Main Results:

  • Seven candidate loci for autosomal recessive lethal alleles were detected based on unobserved homozygous haplotypes.
  • Resequencing and imputation identified potential lethal recessive variants at these loci.
  • No variants were fully concordant with marker-based diplotypes after imputation.

Conclusions:

  • Predicted lethal haplotypes associated with SNP genotypes can be utilized in selective breeding programs.
  • Sequencing and variant identification enable efficient management strategies like gene editing.
  • These approaches can reduce inbreeding impacts on fertility and maximize genetic gains.