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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Función de decodificación de cilios: definición de genes especializados requeridos para la biogénesis de cilios

Tomer Avidor-Reiss1, Andreia M Maer, Edmund Koundakjian

  • 1Howard Hughes Medical Institute and Division of Biological Sciences and Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093, USA.

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Resumen

Los investigadores identificaron ~ 200 genes cruciales para la función de los cilios, incluidas las nuevas proteínas del segmento externo (OSEG), esenciales para la ciliogénesis y el transporte especializado en eucariotas. Este descubrimiento ayuda a la comprensión de la evolución y función de los cilios.

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Área de la Ciencia:

  • Biología celular Biología celular.
  • Biología evolutiva Biología evolutiva.
  • La genómica es la genómica.

Sus antecedentes:

  • El flagelo eucariota (cilium) es un orgánulo vital para la motilidad y las funciones sensoriales en muchos eucariotas, pero es prescindible en otros.
  • Comprender la base genética de la formación y función de los cilios es clave para descifrar sus diversas funciones.

Objetivo del estudio:

  • Identificar genes esenciales para la formación y función de los cilios utilizando genómica comparativa.
  • Para caracterizar las nuevas familias de proteínas involucradas en la ciliogénesis.

Principales métodos:

  • Análisis genómico comparativo de organismos con y sin cilios.
  • Caracterización funcional de nuevos genes en el organismo modelo Drosophila.

Principales resultados:

  • Identificó aproximadamente 200 genes conservados ausentes en los eucariotas no ciliados pero presentes en los ciliados, incluyendo más del 80% de las proteínas ciliares ancestrales conocidas.
  • Caracterizó una nueva familia de proteínas del segmento externo (OSEG) esenciales para la ciliogénesis en Drosophila.
  • Se demostró que los OSEG forman una vía de transporte especializada única para el compartimento ciliar.

Conclusiones:

  • La genómica comparativa es efectiva para identificar conjuntos de genes ciliares centrales.
  • Los OSEG representan una nueva clase de proteínas críticas para el transporte y la formación ciliar.
  • Este trabajo proporciona información sobre la evolución y la biología especializada de los cilios.