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  11. Sash1 Mutations And Hereditary Disorders Of Pigmentation: Review Of Literature

SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature

Anuradha Bishnoi1, Aarushi Arunima1, Keshavamurthy Vinay1

  • 1Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Pigment Cell & Melanoma Research
|June 13, 2025

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View abstract on PubMed

Summary
This summary is machine-generated.

Mutations in the SASH1 gene cause rare skin pigmentation disorders like Dyschromatosis Universalis Hereditaria (DUH). SASH1

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Dyschromatosis Universalis Hereditaria (DUH) is a rare genodermatosis with lifelong hyper- and hypopigmented macules.
  • While ABCB6 mutations are known, SASH1 gene mutations are increasingly recognized as a cause of DUH and familial pigmentation disorders.

Purpose of the Study:

  • To review literature on SASH1 mutations and their associated phenotypes.
  • To elucidate the dual role of SASH1 in pigmentation and tumor suppression.

Main Methods:

  • Literature review of 22 SASH1 mutations.
  • Analysis of functional studies on SASH1's role in cellular pathways.

Main Results:

  • Identified 22 SASH1 mutations, predominantly autosomal dominant, causing DUH, lentiginosis, and rare syndromic forms.
Keywords:
SASH1 mutationdyschromatosisdyschromatosis universalis hereditarialentigines

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  • SASH1 functions as both a tumor suppressor and a pro-melanogenic factor.
  • SASH1 modulates key pathways (e.g., p53-POMC-α-MSH-MC1R-MITF, Gαs-SASH1-IQGAP1-E-cadherin) impacting melanocyte homeostasis and UV response.

    • Conclusions:

    • SASH1 plays a critical role in melanocyte regulation and pigmentation.
    • Understanding SASH1's dual function offers potential for novel therapeutic strategies for pigmentary disorders.
    skin pigmentation