FIGURE

Figure 3

ID

ZDB-FIG-260501-56

Publication

Kashyap et al., 2026 - Novel MC1R variants cause red hair and lighter skin colour

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Figure 3

Association of rs3212363 genotypes with melanin index

(A and B) Beeswarm dot plot (A) and linear regression plot (B) showing significant association of rs3212363 genotype (TT) with melanin index in the Bodh population from Ladakh (N = 277).

(C and D) Beeswarm dot plot (C) and linear regression plot (D) showing significant association of rs3212363 genotype (TT) with melanin index in male individuals from the Mahto population from Central India (N = 361 [males and females], N = 178 [males]).

(E) Presence of two potential transcription regulatory CTCF binding sites near the genomic location of rs3212363, suggesting its potential role in the transcriptional regulation of MC1R.

(F) Dual luciferase reporter assay using pGL4.23 vector in HEK293T cells showed a significant reduction in the firefly luciferase signal in the presence of the rs3212363 variant (n = 4). Statistical significance was evaluated by Student’s t test; ∗∗∗p < 0.001.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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