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

Pleiotropy01:33

Pleiotropy

43.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.6K
Multiple Allele Traits01:49

Multiple Allele Traits

38.4K
The Concept of Multiple Allelism
38.4K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

37.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.8K
Lethal Alleles02:41

Lethal Alleles

18.5K
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...
18.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

25.4K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.4K
Incomplete Dominance01:43

Incomplete Dominance

30.7K
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.
30.7K

You might also read

Related Articles

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

Sort by
Same author

A phase I study of panobinostat and ruxolitinib in patients with primary myelofibrosis (PMF) and post--polycythemia vera/essential thrombocythemia myelofibrosis (post--PV/ET MF).

Leukemia research·2019
Same author

Role of minimal residual disease in the management of acute myeloid leukemia-a case-based discussion.

Annals of hematology·2018
Same author

In vivo differentiation and genomic evolution in adult male germ cell tumors.

Genes, chromosomes & cancer·2007
Same author

Expression of ID genes in differentiated elements of human male germ cell tumors.

Diagnostic molecular pathology : the American journal of surgical pathology, part B·2002
Same author

Deregulation of FCGR2B expression by 1q21 rearrangements in follicular lymphomas.

Oncogene·2001
Same author

Comparative genomic hybridization and amplotyping by arbitrarily primed PCR in stage A B-CLL.

Cancer genetics and cytogenetics·2001

Related Experiment Video

Updated: Feb 28, 2026

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

14.4K

Fanconi anemia: a pleotropic mutation with multiple cellular and developmental abnormalities.

R S Chaganti1, J Houldsworth

  • 1Laboratory of Cancer Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021.

Annales De Genetique
|January 1, 1991
PubMed
Summary

Fanconi anemia (FA) is a genetic disorder causing aplastic anemia and developmental issues. Research aims to isolate the FA gene, potentially involved in hematopoietic cell development.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

Related Experiment Videos

Last Updated: Feb 28, 2026

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

14.4K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Fanconi anemia (FA) is an inherited disorder presenting in childhood.
  • Characterized by aplastic anemia, developmental abnormalities, and increased cancer risk.
  • FA cells exhibit hypersensitivity to DNA crosslinking agents, indicating DNA repair defects.

Purpose of the Study:

  • To understand the biochemical basis of Fanconi anemia.
  • To identify and molecularly characterize the gene responsible for FA.
  • To explore the role of the FA gene in hematopoietic cell development.

Main Methods:

  • Cytogenetic and biochemical analyses of FA cells.
  • Studies on DNA repair proficiency after exposure to crosslinking agents.
  • DNA transfection techniques for gene isolation.

Main Results:

  • Descriptive studies have identified cytogenetic and biochemical abnormalities in FA.
  • FA cells show impaired DNA repair and hypersensitivity to DNA damaging agents.
  • DNA transfection offers a promising approach for FA gene identification.

Conclusions:

  • Further research is needed to fully elucidate the biochemical basis of FA.
  • The FA gene is likely involved in regulating hematopoietic and other cell types.
  • Molecular characterization of the FA gene will advance understanding and treatment of the disorder.