Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.2K
Human Genetics01:28

Human Genetics

936
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
936
Genetic Variation01:25

Genetic Variation

944
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,...
944
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.8K
Pleiotropy01:33

Pleiotropy

41.8K
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,...
41.8K
Heritability01:06

Heritability

387
Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
387

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
Same author

SECmeres outperform extracellular vesicles as potential blood RNA biomarkers for Alzheimer's disease.

Nature communications·2026
Same author

Bibliometric analysis of exercise and cancer prognosis research: trends, thematic evolution, and global collaborations (2015-2024).

Frontiers in oncology·2026
Same author

Decoding Choroid Plexus Pathology in Alzheimer's Disease: A Longitudinal Radiomics Approach for Prodromal Identification and Risk Stratification.

CNS neuroscience & therapeutics·2026
Same author

Immune Evasion in Ovarian Cancer Peritoneal Metastasis: Mechanisms and Biomarker-Guided Therapeutic Matching.

Journal of cellular physiology·2026
Same author

Cardiovascular-Kidney-Metabolic Syndrome: Conceptualising an Approach to Health Economic Modelling.

Diabetes, obesity & metabolism·2026
Same author

IL-6/STAT3 signaling drives mitochondrial oxidative phosphorylation dysfunction and AP-1 activation in fibroblasts during sepsis-induced lung injury.

Free radical biology & medicine·2026

Video Experimental Relacionado

Updated: Nov 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.1K

Variación genética común que influye en la microestructura de la materia blanca humana

Bingxin Zhao1, Tengfei Li2,3, Yue Yang4

  • 1Department of Statistics, Purdue University, West Lafayette, IN 47907, USA.

Science (New York, N.Y.)
|June 18, 2021
PubMed
Resumen

Los investigadores identificaron variantes genéticas que afectan la microestructura de la materia blanca en más de 43.000 personas. Estos hallazgos vinculan el cableado cerebral con enfermedades y rasgos, destacando las funciones de las células gliales.

Más Videos Relacionados

3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse
15:26

3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse

Published on: May 19, 2015

14.3K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.1K

Videos de Experimentos Relacionados

Last Updated: Nov 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.1K
3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse
15:26

3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse

Published on: May 19, 2015

14.3K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.1K

Área de la Ciencia:

  • La neurociencia
  • La genética
  • Imágenes neurológicas

Sus antecedentes:

  • Las regiones cerebrales se comunican a través de tractos de materia blanca, compuestos de axones mielinados.
  • Comprender la base genética de la microestructura de la materia blanca es crucial para la salud del cerebro.

Objetivo del estudio:

  • Identificar las variantes genéticas comunes que influyen en la microestructura de la materia blanca.
  • Explorar los vínculos genéticos entre la estructura de la materia blanca y los rasgos/enfermedades complejas.

Principales métodos:

  • Se utilizaron imágenes de resonancia magnética de difusión (IRMd) en 43.802 individuos.
  • Se realizó un análisis de asociación de todo el genoma (GWAS) y un análisis de los principales componentes funcionales específicos del tracto.
  • Se calcularon correlaciones genéticas entre la microestructura de la materia blanca y 57 rasgos/enfermedades complejas.

Principales resultados:

  • Se identificaron 109 loci genéticos asociados que influyen en la microestructura de la materia blanca.
  • Se detectaron específicamente 30 loci mediante el análisis específico del tracto.
  • Se observó colocalización con enfermedades cerebrales como glioma y accidente cerebrovascular.
  • Las correlaciones genéticas vincularon la microestructura de la materia blanca con 57 rasgos y enfermedades complejas.
  • Las variantes asociadas afectaron a los elementos reguladores en las células gliales, especialmente en los oligodendrocitos.

Conclusiones:

  • Este estudio proporciona una visión significativa de la arquitectura genética de la materia blanca.
  • Revela conexiones genéticas entre la microestructura de la materia blanca y varios resultados clínicos.
  • Los hallazgos subrayan el papel de las células gliales en la genética de la materia blanca.