Video Experimental Relacionado
Updated: Apr 13, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.5K
La variabilidad en la expresión génica subyace a la penetración incompleta
Arjun Raj1, Scott A Rifkin, Erik Andersen
1Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
Nature
|February 19, 2010
Resumen
La aleatoriedad en la expresión génica durante el desarrollo puede causar una variación fenotípica significativa, incluso en organismos genéticamente idénticos. Las mutaciones pueden revelar esta variabilidad oculta, impactando la determinación del destino celular.
Área de la Ciencia:
- Biología del desarrollo Biología del desarrollo.
- Genética La genética.
- Biología molecular La biología molecular.
Sus antecedentes:
- La variación fenotípica surge de factores genéticos y ambientales.
- La expresión génica estocástica durante el desarrollo también puede generar diversidad.
- El nematodo Caenorhabditis elegans proporciona un modelo para el estudio de las redes de genes del desarrollo.
Objetivo del estudio:
- Para investigar las consecuencias de la variabilidad de la expresión génica en organismos multicelulares.
- Examinar el papel de la estocasticidad en la especificación intestinal en C. elegans.
- Comprender cómo las mutaciones afectan la expresión génica y los resultados fenotípicos.
Principales métodos:
- Se estudió la especificación intestinal en Caenorhabditis elegans.
- Analizó la variabilidad de la expresión génica en embriones mutantes.
- Niveles de transcripción cuantificados de genes clave en una red de desarrollo.
Principales resultados:
- Las mutaciones en la red de especificación intestinal llevaron a una expresión altamente variable de un gen redundante.
- Esta variabilidad cruzó un umbral, lo que resultó en un patrón de expresión ON/OFF para un gen regulador maestro.
- La variabilidad de la expresión génica estocástica, normalmente amortiguada, fue expuesta por mutaciones, causando variación fenotípica.
Conclusiones:
- Las mutaciones en las redes de desarrollo pueden revelar la variabilidad estocástica amortiguada.
- Esta variabilidad en la expresión génica puede conducir a diferencias fenotípicas significativas.
- La aleatoriedad en la expresión génica juega un papel crucial en la generación de diversidad en los organismos multicelulares.
Videos de Conceptos Relacionados
01:33Pleiotropy
44.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.2K
02:30Genomic Imprinting and Inheritance
39.0K
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...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
39.0K
01:43Incomplete Dominance
32.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.8K
01:09Epistasis Analysis
6.3K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
6.3K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
113
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
113
01:25Genetic Variation
1.6K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
1.6K