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

Conserved Binding Sites01:49

Conserved Binding Sites

4.2K
Many proteins’ biological role depends on their interactions with their ligands, small molecules that bind to specific locations on the protein known as ligand-binding sites. Ligand-binding sites are often conserved among homologous proteins as these sites are critical for protein function.
Binding sites are often located in large pockets, and if their location on a protein’s surface is unknown, it can be predicted using various approaches. The energetic method computationally...
4.2K
Gene Families01:57

Gene Families

8.7K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.7K
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

4.3K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.3K
Diversity of Antigen Receptors01:28

Diversity of Antigen Receptors

501
Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
501

You might also read

Related Articles

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

Sort by
Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Genome medicine·2026
Same author

Healthy short stature.

Archives of endocrinology and metabolism·2026
Same author

Expanding the ABCA2-associated neurodevelopmental phenotype.

HGG advances·2026
Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026
Same author

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Frontiers in genetics·2026

Related Experiment Video

Updated: Jun 3, 2025

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells
10:26

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells

Published on: January 20, 2019

12.1K

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Ivana Lessel1, Anja Baresic2, Ivan K Chinn3

  • 1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.

American Journal of Human Genetics
|January 11, 2025
PubMed
Summary

Genetic variants in BCL11B, a key developmental gene, cause distinct neurodevelopmental disorders. The severity and type of BCL11B variants correlate with specific clinical subtypes and impact DNA binding, influencing disease outcomes.

Keywords:
BCL11BC2H2-type zinc finger proteingenotype-phenotype correlationrecognition codetype 2 innate lymphoid cells

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.4K

Related Experiment Videos

Last Updated: Jun 3, 2025

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells
10:26

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells

Published on: January 20, 2019

12.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.4K

Area of Science:

  • Genetics and Molecular Biology
  • Developmental Biology
  • Neuroscience

Background:

  • BCL11B is a transcription factor crucial for immune and nervous system development.
  • Germline variants in BCL11B are linked to developmental syndromes, but mechanisms are unclear.
  • Understanding genotype-phenotype correlations is vital for BCL11B-related disorders.

Purpose of the Study:

  • To correlate BCL11B genotypes with clinical phenotypes.
  • To elucidate the pathophysiologic mechanisms of BCL11B variants.
  • To define clinical subtypes of BCL11B-related disorders.

Main Methods:

  • Genotype-phenotype correlation in 92 individuals with BCL11B variants.
  • Immune phenotyping and chromatin immunoprecipitation DNA-sequencing.
  • Dual-luciferase reporter assays and molecular modeling.

Main Results:

  • Three distinct clinical subtypes of BCL11B-related disorders were identified.
  • Gene-disruptive and zinc-binding variants associate with milder neurodevelopmental delay and immune anomalies.
  • Variants affecting DNA-binding helices or specificity residues lead to variable, severe phenotypes due to impaired transcriptional activity.

Conclusions:

  • Phenotypic severity in BCL11B disorders depends on variant type and impact on DNA binding affinity and specificity.
  • Integrative analyses reveal distinct pathophysiologic mechanisms for different BCL11B variants.
  • This study refines classification and understanding of BCL11B-related developmental syndromes.