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

Gene

Volumn 281, Issue 1-2, 2001, Pages 81-94

  Smith, Aaron G ^a   Box, Neil F ^a   Marks, Lisa H ^a   Chen, Wei ^a   Smit, Darren J ^a   Wyeth, Jason R ^a   Huttley, Gavin A ^b   Easteal, Simon ^b   Sturm, Richard A ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

Author keywords

MC1R; Melanin; Melanocyte; Pigmentation; Red hair; Skin color

Indexed keywords

ARGININE; CYSTEINE; DNA MINISATELLITE; MELANOCORTIN 1 RECEPTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; ETHNIC DIFFERENCE; FEMALE; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HAIR COLOR; HAPLOTYPE; HELA CELL; HOMEOBOX; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; INTRON; MALE; MICROPHTHALMIA; MISSENSE MUTATION; MOLECULAR EVOLUTION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SKIN PIGMENTATION; TRANSACTIVATION; VARIABLE NUMBER OF TANDEM REPEAT;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; CELLS, CULTURED; DNA; EVOLUTION, MOLECULAR; GENE EXPRESSION; HAPLOTYPES; HELA CELLS; HUMANS; LUCIFERASES; MALE; MELANOCYTES; MICE; MOLECULAR SEQUENCE DATA; POLY A; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RECEPTORS, CORTICOTROPIN; RECEPTORS, MELANOCORTIN; RECOMBINANT FUSION PROTEINS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION, GENETIC; TUMOR CELLS, CULTURED;

EID: 0035960920     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00791-0     Document Type: Article

References (31)

1. Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice
2. Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo
3. The genetics of pigmentation: From fancy genes to complex traits
4. Characterization of melanocyte stimulating hormone variant alleles in twins with red hair
5. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations
6. Influences of array size and homogeneity on minisatellite mutation
7. Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
8. Purification of CpG islands using a methylated DNA binding column
9. Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer
10. Molecular cloning of a novel melanocortin receptor
11. Why are human G-protein-coupled receptors predominantly intronless?
12. Evidence for variable selective pressures at MC1R
13. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family
14. Initial sequencing and analysis of the human genome
15. Minisatellite repeat coding as a digital approach to DNA typing
16. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
17. Cytoskeletal events underlying dendrite formation by cultured pigment cells
18. Effects of mutation of the CREB binding site of the somatostatin promoter on cyclic AMP responsiveness in CV-1 cells
19. Human DNA sequence variation in a 6.6-kb region containing the melanocortin 1 receptor promoter
20. Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene
21. The cloning of a family of genes that encode the melanocortin receptors
22. Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype?
23. High polymorphism at the human melanocortin 1 receptor locus
24. Cloning and sequencing of human betaIII-tubulin cDNA: Induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents
25. The melanocortin 1 receptor (MC1R): More than just red hair
26. Identification of a cis-acting element that enhances the pigment cell-specific expression of the human tyrosinase gene
27. Human pigmentation genes: Identification, structure and consequences of polymorphic variation
28. Molecular analysis of a new splice variant of the human melanocortin-1 receptor
29. Does alpha-MSH have a role in regulating skin pigmentation in humans?
30. Construction of a high-resolution physical and transcription map of chromosome 16q24.3: A region of frequent loss of heterozygosity in sporadic breast cancer
31. A major QTL for mole density is linked to the familial melanoma gene CDKN2A: A maximum likelihood combined linkage and association analysis in twins and their sibs