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Estudio de todo el genoma de empalme de pre-ARNm humano alternativo con microarrays de unión de exones
Jason M Johnson1, John Castle, Philip Garrett-Engele
1Rosetta Inpharmatics LLC, Merck & Co., Inc., 12040 115th Avenue N.E., Kirkland, WA 98034, USA. jason_johnson@merck.com
Science (New York, N.Y.)
|December 20, 2003
Resumen
El empalme alternativo, un proceso clave en la expresión génica, está muy extendido en los seres humanos. Este estudio revela que al menos el 74% de los genes humanos se someten a un empalme alternativo, lo que afecta el desarrollo y las enfermedades.
Área de la Ciencia:
- La genómica es la genómica.
- Biología Molecular Biología Molecular
- La bioinformática es la bioinformática.
Sus antecedentes:
- El empalme del ARN pre-mensajero alternativo (pre-ARNm) es crucial para el desarrollo, la fisiología y las enfermedades.
- Se sabe que más de la mitad de los genes humanos están empalmados alternativamente, lo que resalta su importancia.
- Comprender la regulación y las funciones biológicas del empalme alternativo a través de los tejidos y las etapas de desarrollo requiere enfoques sistemáticos.
Objetivo del estudio:
- Monitorear sistemáticamente los eventos de empalme alternativo en un gran número de genes humanos.
- Para determinar la distribución en tejidos y líneas celulares de eventos alternativos de empalme.
- Identificar eventos de empalme alternativos conocidos y nuevos y cuantificar su prevalencia.
Principales métodos:
- Utilizó la tecnología de microarrays para analizar el empalme en cada unión exón-exón.
- Examinó más de 10.000 genes humanos de múltiples exones.
- Analizó muestras de 52 diversos tejidos humanos y líneas celulares.
Principales resultados:
- Generó datos de todo el genoma que proporcionan evidencia experimental para miles de eventos de empalme alternativos.
- Documentó la distribución de tejidos y líneas celulares para estos eventos de empalme.
- Se confirmó que al menos el 74% de los genes multi-exón humanos están empalmados alternativamente, superando las estimaciones anteriores.
Conclusiones:
- El empalme alternativo es una característica generalizada del genoma humano.
- El enfoque de microarray desarrollado proporciona una poderosa herramienta para estudiar el empalme alternativo de manera integral.
- Estos hallazgos ofrecen una base para futuras investigaciones sobre los aspectos funcionales y regulatorios del empalme alternativo en la salud y la enfermedad.
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Overview
02:01pre-mRNA Processing
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...
02:01Pre-mRNA Processing
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...
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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.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps the cell...
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps the cell...
01:20Mismatch Repair
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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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