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Dosage Compensation02:50

Dosage Compensation

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In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will...
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Translesion DNA Polymerases02:10

Translesion DNA Polymerases

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Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...
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Conservative Site-specific Recombination and Phase Variation02:53

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
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X-Inactivation

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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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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: Sep 9, 2025

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

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Inactivación alélica autosómica: replicación variable y sensibilidad a la dosis

Michael B Heskett, Athanasios E Vouzas, Brian Johnstone

    bioRxiv : the preprint server for biology
    |September 2, 2025
    PubMed
    Resumen
    Este resumen es generado por máquina.

    Los nuevos loci autosómicos, llamados Centros de Inactivación / Estabilidad (I / SC), muestran una expresión génica estable y específica del alelo y el tiempo de replicación, creando un mosaicismo celular que afecta a las enfermedades humanas.

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    Área de la Ciencia:

    • La genética
    • La epigenética
    • La regulación genómica

    Sus antecedentes:

    • Los genes autosómicos exhiben expresión monoalélica y replicación asíncrona, similar a los genes impresos y los regulados por la exclusión alélica.
    • Los centros de inactivación / estabilidad (I / SC) son loci autosómicos con regulación epigenética de la expresión alélica y el tiempo de replicación.
    • Estas diferencias epigenéticas pueden ser tan significativas como las entre los cromosomas X activos e inactivos.

    Objetivo del estudio:

    • Caracterizar cientos de loci autosómicos que exhiben una regulación epigenética específica del alelo del tiempo de replicación y la expresión génica.
    • Definir estos lugares como centros de inactivación y estabilidad (I/SC).
    • Investigar las características e implicaciones de las I/SC.

    Principales métodos:

    • Caracterización de cientos de loci autosómicos.
    • Análisis de la regulación epigenética específica del alelo del tiempo de replicación y la expresión génica.
    • Análisis comparativo con genomas de ratón para identificar la síntenia conservada.

    Principales resultados:

    • Se han identificado y definido cientos de I/SC, de aproximadamente 1 megabase de tamaño, que contienen genes codificadores y no codificadores de proteínas.
    • Se observaron patrones de expresión génica estocásticos pero mitóticamente estables específicos del alelo, independientemente del padre de origen u otros alelos.
    • Se encontraron variaciones de tiempo de replicación específicas del alelo, independientes del otro alelo, y I / SCs conservados en genomas de ratón.

    Conclusiones:

    • Las I / SC demuestran una regulación restringida por alelos, lo que lleva a un mosaicismo celular extenso a través de mecanismos epigenéticos estables.
    • Este mosaicismo afecta a numerosos genes sensibles a la dosis implicados en enfermedades como el Parkinson, la epilepsia, la sordera y las discapacidades intelectuales.