Your browser doesn't support javascript.
loading
A genome-wide genetic screen uncovers determinants of human pigmentation.
Bajpai, Vivek K; Swigut, Tomek; Mohammed, Jaaved; Naqvi, Sahin; Arreola, Martin; Tycko, Josh; Kim, Tayne C; Pritchard, Jonathan K; Bassik, Michael C; Wysocka, Joanna.
Afiliación
  • Bajpai VK; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Swigut T; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Mohammed J; School of Chemical, Biological, and Materials Engineering, The University of Oklahoma, Norman, OK 73019, USA.
  • Naqvi S; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Arreola M; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Tycko J; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Kim TC; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Pritchard JK; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Bassik MC; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Wysocka J; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Science ; 381(6658): eade6289, 2023 08 11.
Article en En | MEDLINE | ID: mdl-37561850
ABSTRACT
Skin color, one of the most diverse human traits, is determined by the quantity, type, and distribution of melanin. In this study, we leveraged the light-scattering properties of melanin to conduct a genome-wide screen for regulators of melanogenesis. We identified 169 functionally diverse genes that converge on melanosome biogenesis, endosomal transport, and gene regulation, of which 135 represented previously unknown associations with pigmentation. In agreement with their melanin-promoting function, the majority of screen hits were up-regulated in melanocytes from darkly pigmented individuals. We further unraveled functions of KLF6 as a transcription factor that regulates melanosome maturation and pigmentation in vivo, and of the endosomal trafficking protein COMMD3 in modulating melanosomal pH. Our study reveals a plethora of melanin-promoting genes, with broad implications for human variation, cell biology, and medicine.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pigmentación de la Piel / Melanosomas / Proteínas Adaptadoras Transductoras de Señales / Factor 6 Similar a Kruppel / Melaninas / Melanocitos Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Science Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pigmentación de la Piel / Melanosomas / Proteínas Adaptadoras Transductoras de Señales / Factor 6 Similar a Kruppel / Melaninas / Melanocitos Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Science Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos