The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution.

@article{Smith2001TheHM,
  title={The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution.},
  author={Aaron G Smith and Neil F. Box and Lisa Marks and Wen Chen and Darren J. Smit and Jason R. Wyeth and Gavin A. Huttley and Simon Easteal and Richard A Sturm},
  journal={Gene},
  year={2001},
  volume={281 1-2},
  pages={81-94}
}
The complete sequence of the MC1R locus has been assembled, the coding region of the gene is intronless and placed within a 12 kb region flanked by the NULP1 and TUBB4 genes. The immediate promoter region has an E-box site with homology to the M-box consensus known to bind the microphthalmia transcription factor (MITF); however, promoter deletion analysis and transactivation studies have failed to show activation through this element by MITF. Polymorphism within the coding region, immediate 5… CONTINUE READING