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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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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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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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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.
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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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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.
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Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
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Un análisis genético de todo el genoma descubre los determinantes de la pigmentación humana

Vivek K Bajpai1,2,3, Tomek Swigut1, Jaaved Mohammed1,2

  • 1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.

Science (New York, N.Y.)
|August 10, 2023
PubMed
Resumen

Este estudio identificó 169 genes que regulan la melanogénesis, el proceso de producción de melanina. Se descubrieron muchos genes nuevos, ofreciendo información sobre la variación del color de la piel humana y las afecciones médicas relacionadas.

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Área de la Ciencia:

  • La genética
  • Biología celular
  • La variación humana

Sus antecedentes:

  • La diversidad de color de la piel es un rasgo humano clave determinado por la melanina.
  • La melanogénesis implica una regulación compleja de la producción de melanina en los melanocitos.

Objetivo del estudio:

  • Identificar nuevos reguladores de la melanogénesis utilizando una pantalla de todo el genoma.
  • Para entender la base genética de la variación de la pigmentación de la piel humana.

Principales métodos:

  • Pantalla de todo el genoma aprovechando las propiedades de difusión de luz de la melanina.
  • Caracterización funcional de genes identificados en la melanogénesis.
  • Análisis de la expresión génica en melanocitos de individuos con pigmentación variable.

Principales resultados:

  • Identificó 169 genes funcionalmente diversos involucrados en la biogénesis del melanosoma, el transporte endosómico y la regulación génica.
  • 135 de estos genes representan nuevas asociaciones con la pigmentación.
  • La mayoría de los genes identificados estaban regulados en los melanocitos de individuos de piel más oscura.
  • Papel desentrañado para KLF6 en la maduración del melanosoma y COMMD3 en la regulación del pH melanosomal.

Conclusiones:

  • El estudio revela numerosos genes nuevos que promueven la producción de melanina.
  • Los hallazgos tienen amplias implicaciones para comprender la variación humana, la biología celular y las aplicaciones médicas relacionadas con la pigmentación.