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Peer-reviewedCC BY-NCJournal of Clinical and Basic Research

Molecular insights into skin pigmentation: Unraveling the role of key genes and miRNAs in melanogenesis

  1. 1Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran
  2. 2Gorgan Congenital Malformations Research Center, Jorjani Clinical Sciences Research Institute, Golestan University of Medical Sciences, Gorgan, Iran
  3. 3Gorgan Congenital Malformations Research Center, Jorjani Clinical Sciences Research Institute, Golestan University of Medical Sciences, Gorgan, Iran; Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran

Abstract

Human skin pigmentation is a complex phenotype governed by an interplay of genetic, biochemical, and physiological factors. Melanogenesis involves tightly regulated enzymatic pathways that control the balance between eumelanin and pheomelanin synthesis, ultimately determining individual skin color and influencing susceptibility to pigmentation disorders and UV-related health outcomes. An extensive literature review was conducted to construct a comprehensive molecular framework of skin pigmentation. Key genes involved in melanogenesis, including TYR, along with regulatory microRNAs (miRNAs), were systematically analyzed. Relevant studies addressing environmental influences-particularly ultraviolet (UV) exposure-and pigmentation disorders were also evaluated. This review elucidates the central roles of melanogenic genes and miRNAs in regulating pigment production and melanocyte function. Multiple miRNAs were identified as critical modulators of melanogenesis-related pathways. Furthermore, the molecular mechanisms underlying pigmentation disorders, including oculocutaneous albinism, were characterized. Environmental factors, especially UV radiation, were shown to exert significant effects on melanogenic signaling and skin color variation. Skin pigmentation is regulated through a multifaceted network of genetic, epigenetic, and environmental factors. By integrating current molecular insights, this review advances understanding of melanogenesis and associated disorders, providing a robust foundation for future research and potential therapeutic strategies targeting pigmentation-related conditions.

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BibTeX
@article{vaghefi2026molecular,
  title = {{Molecular insights into skin pigmentation: Unraveling the role of key genes and miRNAs in melanogenesis}},
  author = {Fatemeh Vaghefi and Farzaneh Motallebi and Teymoor Khosravi and Zainab Mohammed Al Sudani and Mohaddeseh Mohsenipour and Arian Rahimzadeh and Morteza Oladnabi},
  journal = {Journal of Clinical and Basic Research},
  year = {2026},
  month = jun,
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Molecular insights into skin pigmentation: Unraveling the role of key genes and miRNAs in melanogenesis
AU  - Fatemeh Vaghefi
AU  - Farzaneh Motallebi
AU  - Teymoor Khosravi
AU  - Zainab Mohammed Al Sudani
AU  - Mohaddeseh Mohsenipour
AU  - Arian Rahimzadeh
AU  - Morteza Oladnabi
PY  - 2026
DA  - 2026/06/01
JO  - Journal of Clinical and Basic Research
AB  - Human skin pigmentation is a complex phenotype governed by an interplay of genetic, biochemical, and physiological factors. Melanogenesis involves tightly regulated enzymatic pathways that control the balance between eumelanin and pheomelanin synthesis, ultimately determining individual skin color and influencing susceptibility to pigmentation disorders and UV-related health outcomes. An extensive literature review was conducted to construct a comprehensive molecular framework of skin pigmentation. Key genes involved in melanogenesis, including TYR, along with regulatory microRNAs (miRNAs), were systematically analyzed. Relevant studies addressing environmental influences-particularly ultraviolet (UV) exposure-and pigmentation disorders were also evaluated. This review elucidates the central roles of melanogenic genes and miRNAs in regulating pigment production and melanocyte function. Multiple miRNAs were identified as critical modulators of melanogenesis-related pathways. Furthermore, the molecular mechanisms underlying pigmentation disorders, including oculocutaneous albinism, were characterized. Environmental factors, especially UV radiation, were shown to exert significant effects on melanogenic signaling and skin color variation. Skin pigmentation is regulated through a multifaceted network of genetic, epigenetic, and environmental factors. By integrating current molecular insights, this review advances understanding of melanogenesis and associated disorders, providing a robust foundation for future research and potential therapeutic strategies targeting pigmentation-related conditions.
SN  - 2538-3736
ER  -