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Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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...
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Nucleotide Excision Repair01:38

Nucleotide Excision Repair

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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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Cancers Originate from Somatic Mutations in a Single Cell02:21

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Video Experimental Relacionado

Updated: Jun 4, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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Inestabilidad del genoma heredado

Jayne Y Hehir-Kwa1, Geoff Macintyre2

  • 1Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.

Science (New York, N.Y.)
|January 2, 2025
PubMed
Resumen

Las variantes estructurales de la línea germinal son un factor de riesgo significativo para los tumores sólidos extracraneales pediátricos. Comprender estos cambios genéticos es crucial para identificar a los niños en riesgo.

Área de la Ciencia:

  • La genética
  • Oncología Pediátrica

Sus antecedentes:

  • Los tumores sólidos extracraneales pediátricos representan un desafío significativo para la salud.
  • Los fundamentos genéticos de estos cánceres no se comprenden completamente.

Objetivo del estudio:

  • Investigar el papel de las variantes estructurales de la línea germinal en el desarrollo de tumores sólidos extracraneales pediátricos.

Principales métodos:

  • Se utilizó la secuenciación de todo el genoma para identificar variantes estructurales de la línea germinal.
  • Se analizaron datos de variantes en una cohorte de pacientes pediátricos con cáncer.

Principales resultados:

  • Se identificó una asociación significativa entre las variantes estructurales específicas de la línea germinal y un mayor riesgo de tumores sólidos extracraneales pediátricos.

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  • Ciertos tipos de variantes estructurales fueron más frecuentes en los individuos afectados.

    • Conclusiones:

    • Las variantes estructurales de la línea germinal se confirman como un factor de riesgo para los tumores sólidos extracraneales pediátricos.
    • Estos hallazgos pueden informar sobre el cribado genético y la estratificación del riesgo en el cáncer pediátrico.