The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene [2]

Journal of Investigative Dermatology

Volumn 117, Issue 1, 2001, Pages 156-158

  Jiménez Cervantes, Celia ^a   Olivares, Concepción ^a   González, Petra ^a   Morandini, Renato ^a   Ghanem, Ghanem ^b   García Borrón, José Carlos ^b  

^a UNIVERSITY OF MURCIA   (Spain)

^b FREE UNIVERSITY OF BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE INHIBITOR; DNA; INTERMEDIN DERIVATIVE; MELANOCORTIN 1 RECEPTOR; PROLINE;

ALLELE; ANIMAL CELL; CHO CELL; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; LETTER; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0034933642     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2001.01393.x     Document Type: Letter

References (10)

1. Mitogenic and melanogenic stimulation of normal human melanocytes by melanotropic peptides
2. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
3. Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
4. The cloning of a family of genes that encode the melanocortin receptors
5. Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype?
6. The melanocortin 1 receptor (MC1R): More than just red hair
7. Loss of function mutation of the human melanocortin 1 receptor are common and are associated with red hair
8. Melanocortin 1 receptor variant in Irish population
9. Molecular cloning of a new splice variant of the human melanocortin-1 receptor
10. Does αMSH have a role in regulating skin pigmentation in humans?