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Related Experiment Video

Updated: May 10, 2026

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk.

Jennifer Y Lin¹, Mingfeng Zhang, Tobias Schatton

¹Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Biochemical and Biophysical Research Communications

|June 18, 2013

Summary

Genetic variations in the ABCB5 transporter are linked to reduced melanoma risk and altered pigmentation. This study highlights ABCB5

Keywords:

ABCB5 Cancer Cancer stem cells Case-controlled study Genotype Humans Melanoma Pigmentation Single nucleotide polymorphism

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Area of Science:

Genetics
Oncology
Biochemistry

Background:

ABCB5, an ATP-binding cassette transporter, is implicated in multidrug resistance and serves as a marker for chemoresistant melanoma-initiating cells.
ABCB5 expression correlates with tumor progression and growth in various human cancers, including melanoma.

Purpose of the Study:

To investigate the association between ABCB5 single nucleotide polymorphisms (SNPs) and melanoma risk.
To explore the functional impact of identified ABCB5 variants on melanoma cell characteristics and human pigmentation.

Main Methods:

Genotyping of 585 melanoma cases and 605 controls for 44 ABCB5 tagging SNPs.
Statistical analysis of SNP associations with melanoma risk and hair color.
Functional studies on melanoma cell lines genotyped for the rs2301641 SNP, assessing ABCB5 transport capacity and melanin production.

Main Results:

Three SNPs (rs10231520, rs17817117, rs2301641) were associated with decreased melanoma risk.
The rs2301641 SNP, encoding an ABCB5 K115E amino acid change, was linked to non-red hair color in controls.
The ABCB5 E form (associated with lower risk) showed decreased transport capacity and increased melanin production.

Conclusions:

Novel associations between the ABCB5 K115E polymorphism, human pigmentation, and melanoma risk were identified.
Functional variations in ABCB5 may play a role in melanomagenesis.
This study provides the first evidence linking functional variation in a cancer stem cell marker to the risk of its corresponding malignancy.