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Related Concept Videos

Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

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DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
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The DNA Replication Fork01:02

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An organism’s genome needs to be duplicated in an efficient and error-free manner for its growth and survival. The replication fork is a Y-shaped active region where two strands of DNA are separated and replicated continuously. The coupling of DNA unzipping and complementary strand synthesis is a characteristic feature of a replication fork.   Organisms with small circular DNA, such as E. coli, often have a single origin of replication; therefore, they have only two replication...
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Overview
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The Replisome03:01

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DNA replication is carried out by a large complex of proteins that act in a coordinated matter to achieve high-fidelity DNA replication. Together this complex is known as the DNA replication machinery or the replisome.
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The cell cycle is a series of events leading to DNA duplication followed by the division of cell content to form two daughter cells. The cell cycle progresses in four stages—the cell increases in size (gap 1 or G1-phase), duplicates its DNA (synthesis or S-phase), prepares to divide (gap 2 or G2-phase), and divides (mitosis or M-phase).
Two states at the origin of replication
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Chromosome Replication02:31

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Before a cell can divide, it must accurately replicate all of its chromosomes, including the DNA and its associated histone and non-histone proteins.  This process begins at numerous origins of replication during the S phase of the cell cycle in each of a cell’s chromosomes simultaneously. Certain nucleotides can act as origins of replication, but these sequences are not well defined - especially in complex, multi-cellular, eukaryotic species. The length of DNA that spans an origin...
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Updated: Oct 3, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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DNA Replication proteins in primary microcephaly syndromes.

Melanie Tingler1, Melanie Philipp1, Martin D Burkhalter1

  • 1Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany.

Biology of the Cell
|February 19, 2022
PubMed
Summary
This summary is machine-generated.

Primary microcephaly, a brain development disorder, is linked to DNA replication factors. These factors also impact centrosome and cilium function, crucial for cell structure and signaling.

Keywords:
DNA replicationcentrosomesciliamicrocephalyneurogenesis

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Area of Science:

  • Developmental Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Primary microcephaly is a neurodevelopmental disorder characterized by reduced head circumference and brain size, leading to cognitive and motor deficits.
  • Research has identified genes involved in DNA replication as potential contributors to microcephaly.
  • Emerging evidence suggests a dual role for some DNA replication factors in genome duplication and centrosome/cilium function.

Purpose of the Study:

  • To review DNA replication factors associated with microcephaly syndromes.
  • To elucidate the impact of these factors on centrosome and cilium function.
  • To consolidate current understanding of the molecular mechanisms underlying microcephaly.

Main Methods:

  • Literature review and synthesis of existing research on microcephaly, DNA replication, centrosomes, and cilia.
  • Analysis of genetic studies linking DNA replication factors to microcephaly.
  • Examination of experimental data on the functional roles of these factors in cell biology.

Main Results:

  • Several DNA replication factors have been implicated in various microcephaly syndromes.
  • A significant subset of these factors are essential for proper centrosome assembly and cilium formation/function.
  • Dysregulation of these dual-function proteins disrupts both genome stability and cellular architecture during brain development.

Conclusions:

  • The study highlights the critical interplay between DNA replication, centrosome, and cilium function in preventing microcephaly.
  • Understanding these molecular links provides insights into the pathogenesis of microcephaly and potential therapeutic targets.
  • Future research should focus on dissecting the precise mechanisms by which replication factors influence neurodevelopmental processes.