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Videos de Conceptos Relacionados

Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Pleiotropy01:33

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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,...
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Changes in the Appendicular Skeleton with Age01:09

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The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
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Incomplete Dominance01:43

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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.
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General Transcription Factors01:30

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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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Human Genetics01:28

Human Genetics

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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...
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Video Experimental Relacionado

Updated: Oct 7, 2025

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
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Los genes del desarrollo de las extremidades subyacen a la variación en los patrones de huellas dactilares humanas

Jinxi Li1, James D Glover2, Haiguo Zhang3

  • 1State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.

Cell
|January 7, 2022
PubMed
Resumen

Los factores genéticos influyen en los patrones de huellas dactilares. Los investigadores encontraron ubicaciones genéticas específicas (loci) vinculadas a tipos y correlaciones de huellas dactilares, destacando el papel de los genes de desarrollo de extremidades en la formación de estos rasgos humanos únicos.

Palabras clave:
EVI1 (en inglés)Modelo de huellas dactilaresgenéticaEstudio de asociación de todo el genomadesarrollo de las extremidadesMetaanálisis transétnico

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Área de la Ciencia:

  • La genética
  • Biología del desarrollo
  • La variación humana

Sus antecedentes:

  • La variación de huellas dactilares se ha reconocido durante mucho tiempo, pero se entiende mal a nivel mecanicista.
  • Las investigaciones anteriores carecían de conocimientos genéticos completos sobre los determinantes de los patrones de huellas dactilares.

Objetivo del estudio:

  • Identificar los loci genéticos asociados con los tipos y patrones de huellas dactilares.
  • Investigar el papel de genes específicos, como el EVI1, en la variación dermatoglífica.
  • Para explorar la correlación genética entre los patrones de huellas dactilares y las proporciones de las manos.

Principales métodos:

  • Se realizaron estudios de asociación de todo el genoma (GWAS) en cohortes de chinos Han.
  • Se realizó un metanálisis transétnico para identificar loci asociados adicionales.
  • El análisis de la expresión génica y los modelos de ratón se utilizaron para investigar la función de los genes candidatos.

Principales resultados:

  • Se identificaron 18 loci asociados con el tipo de huellas dactilares en cohortes chinas Han.
  • Una variante cercana al gen EVI1 se relacionó con la actividad reguladora alterada y el patrón de dermatoglifos en ratones.
  • El metaanálisis transétnico identificó 43 loci asociados con huellas dactilares, enriquecidos para las vías de desarrollo de las extremidades.
  • Se encontraron correlaciones genéticas entre los patrones de huellas dactilares y las proporciones de las manos.

Conclusiones:

  • Los genes del desarrollo de las extremidades juegan un papel crucial en la determinación de los patrones de huellas dactilares.
  • El estudio proporciona una base genética para las correlaciones observadas en los patrones de huellas dactilares.
  • El EVI1 está implicado en el patrón del dermatoglifo, con una dinámica de expresión que sugiere un papel en la formación de las extremidades y los dígitos.