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Related Concept Videos

The Supercomplexes in the Crista Membrane01:41

The Supercomplexes in the Crista Membrane

The mitochondrial cristae membrane is the primary site for the oxidative phosphorylation (OXPHOS) process of energy conversion mediated through respiratory complexes I to V. These complexes have been widely studied for decades, and it has been proven that they form supramolecular structures called respiratory supercomplexes (SC). These higher-order complexes may be crucial in maintaining the biochemical structure and improving the physiological activity of the individual complexes while...
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Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order to...
Pleiotropy01:33

Pleiotropy

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,...
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.
Nondisjunction01:21

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 sister...
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.

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Related Experiment Video

Updated: Jun 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

More complexity to the Bloom's syndrome complex.

Yilun Liu1, Stephen C West

  • 1Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

Genes & Development
|October 17, 2008
PubMed
Summary
This summary is machine-generated.

Researchers discovered RMI2, a new protein component of the BLM helicase complex. This discovery is crucial for understanding Bloom syndrome and DNA repair mechanisms.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Last Updated: Jun 28, 2026

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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

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Bloom syndrome is a genetic disorder caused by mutations in the BLM gene.
  • The BLM gene product, BLM helicase, is essential for DNA repair and genomic stability.
  • BLM helicase functions as part of a multi-protein complex.

Purpose of the Study:

  • To identify novel components of the BLM helicase complex.
  • To elucidate the role of newly discovered proteins in DNA repair and genomic stability.

Main Methods:

  • Proteomic analysis to identify interacting partners of BLM helicase.
  • Biochemical assays to characterize the function of identified proteins.
  • Genetic studies to assess the impact of mutations in novel genes.

Main Results:

  • A fourth component of the BLM helicase complex, named RMI2, was discovered.
  • RMI2 belongs to a novel family of OB-fold-containing proteins.
  • RMI2 plays a role in the stabilization of the BLM helicase complex and checkpoint response.

Conclusions:

  • The discovery of RMI2 expands our understanding of the BLM helicase complex.
  • RMI2 is a critical factor for maintaining genomic integrity.
  • RMI2 represents a potential therapeutic target for Bloom syndrome and related disorders.