Chromoanasynthesis
Franck Pellestor1,2, Jean Baptiste Gaillard3, Benjamin Ganne3,4
1Unit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier Cedex 5, France. f-pellestor@chu-montpellier.fr.
Methods in Molecular Biology (Clifton, N.J.)
|August 30, 2025
Summary
Chromoanasynthesis, a distinct chromosomal rearrangement process, arises from faulty DNA replication. It involves mechanisms like FoSTeS and MMBIR, leading to complex rearrangements seen in congenital diseases and cancers.
Area of Science:
- Genetics
- Molecular Biology
- Cell Biology
Background:
- Chromoanasynthesis is a specific type of chromoanagenesis involving complex chromosomal rearrangements.
- Its formation is associated with defective DNA replication caused by replicative stress.
Purpose of the Study:
- To elucidate the mechanisms underlying chromoanasynthesis.
- To understand its role in congenital diseases and cancer.
Main Methods:
- Investigated replication-based mechanisms such as Fork Stalling and Template Switching (FoSTeS) and Microhomology-Mediated Break-Induced Replication (MMBIR).
- Analyzed the formation of microhomology-dependent templates and switching events during DNA synthesis.
- Observed the resulting chromosomal rearrangements, including duplications and triplications.
Main Results:
- Identified FoSTeS and MMBIR as key mechanisms driving chromoanasynthesis.
- Demonstrated that these mechanisms lead to clusters of complex chromosome rearrangements, characterized by duplications and triplications.
- Chromoanasynthesis occurs in germline and early embryonic development via micronuclei or chromatid bridges.
Conclusions:
- Chromoanasynthesis is a distinct phenomenon resulting from replication stress and specific DNA repair pathways.
- It plays a role in the pathogenesis of congenital diseases and has been observed in cancers.
Related Concept Videos
01:51Lampbrush Chromosomes
8.0K
In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
8.0K
01:26Synthesis of α-Substituted Carbonyl Compounds: The Stork Enamine Reaction
3.5K
α-Substituted ketones or aldehydes can be synthesized from enamines by the Stork enamine reaction, named after its pioneer Gilbert Stork. Enamines are useful synthetic intermediates where the lone pair on nitrogen is in conjugation with the C=C bond. They resemble enolate ions, as the resonance forms of both species have a nucleophilic α carbon.
3.5K
01:26Photochemical Electrocyclic Reactions: Stereochemistry
1.9K
The absorption of UV–visible light by conjugated systems causes the promotion of an electron from the ground state to the excited state. Consequently, photochemical electrocyclic reactions proceed via the excited-state HOMO rather than the ground-state HOMO. Since the ground- and excited-state HOMOs have different symmetries, the stereochemical outcome of electrocyclic reactions depends on the mode of activation; i.e., thermal or photochemical.
Selection Rules: Photochemical Activation
Selection Rules: Photochemical Activation
1.9K
01:10Chromatography: Introduction
4.6K
Chromatography is a technique used to separate compounds based on differences of partitioning between two phases, the stationary phase and the mobile phase.
The phase in which the compounds linger or on which the compounds adsorb is called the stationary phase, whereas the mobile phase is the solvent that carries the solutes to be analyzed. In traditional column chromatography, the mixture flows through the stationary phase, and the compounds partition between the stationary and mobile phases...
The phase in which the compounds linger or on which the compounds adsorb is called the stationary phase, whereas the mobile phase is the solvent that carries the solutes to be analyzed. In traditional column chromatography, the mixture flows through the stationary phase, and the compounds partition between the stationary and mobile phases...
4.6K
01:15α-Bromination of Carboxylic Acids: Hell–Volhard–Zelinski Reaction
3.2K
The method to achieve α-brominated carboxylic acids using a mixture of phosphorus tribromide and bromine is known as the Hell–Volhard–Zelinski reaction. The reaction is catalyzed by phosphorus tribromide, which can be used directly or produced in situ from red phosphorus and bromine. The mechanism comprises PBr3 catalyzed conversion of acid to acid bromide and hydrogen bromide. The acid bromide enolizes to its enol form in the presence of HBr. The nucleophilic enol attacks the...
3.2K
01:11Aryldiazonium Salts to Azo Dyes: Diazo Coupling
3.1K
The reaction of weakly electrophilic aryldiazonium (also called arenediazonium) salts with highly activated aromatic compounds leads to the formation of products with an —N=N— link, called an azo linkage. This reaction, presented in Figure 1, is known as diazo coupling and occurs without the loss of the nitrogen atoms of the aryldiazonium salt. Highly activated aromatic compounds such as phenols or arylamines favor the diazo coupling reaction. The coupling generally occurs at the...
3.1K