Homologous pigmentation mutations in human, mouse and other model organisms

Human Molecular Genetics

Volumn 6, Issue 10 REV. ISS., 1997, Pages 1613-1624

  Jackson, Ian J ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN RECEPTOR; ENZYME; GROWTH FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; HORMONE RECEPTOR; INTERMEDIN; LIGAND; MELANIN; MEMBRANE PROTEIN; PROTEIN TYROSINE KINASE; RECEPTOR PROTEIN; STRUCTURAL PROTEIN; TRANSCRIPTION FACTOR;

BODY WEIGHT; DEVELOPMENT; DISEASE MARKER; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HOMEOSTASIS; HUMAN; INTESTINE INNERVATION; LYSOSOME; MELANOCYTE; MELANOGENESIS; MELANOSOME; MOLECULAR CLONING; MOUSE; NONHUMAN; PIGMENT DISORDER; PIGMENTATION; PLEIOTROPY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; GENETIC DISEASES, INBORN; HAIR COLOR; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MELANINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PIGMENTATION; PROTEINS; RECEPTORS, CORTICOTROPIN; RECEPTORS, MELANOCORTIN; SEQUENCE ALIGNMENT; VARIATION (GENETICS);

AGOUTI;

EID: 0030848629     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.10.1613     Document Type: Review

References (6)

1. Jackson, I. J. (1994) Molecular and developmental genetics of mouse coat color. Annu. Rev. Genet. 28, 189-217.
2. Spritz, R. A. (1994) Molecular-genetics of oculocutaneous albinism. Hum. Mol. Genet. 3, 1469-1475.
3. Zhou, B.-K., Boissy, R. E., Pifko-Hirst, S., Moran, D., and Orlow, S. J. (1993) Lysosome-Associated Membrane Protein-1 (LAMP-1) is the melanocyte vesicular membrane glycoprotein band II. J. Invest. Dermatol. 100, 110-114.
4. Diment, S., Eidelman, M., Rodriguez, G. M., and Orlow, S. J. (1995) Lysosomal hydrolases are present in melanosomes and are elevated in melanising cells. J. Biol. Chem. 270, 4213-4215.
5. Winder, A. J., Wittbjer, A., Rosengren, E., and Rorsman, H. (1993) The mouse brown (b) locus protein has dopachrome tautomerase activity and is located in lysosomes in transfected fibroblasts. J. Cell Sci. 106, 153-166.
6. Novak, E. K., Hui, S. W., and Swank, R. T. (1984) Platelet storage pool deficiency in mouse pigment mutations associated with 7 distinct genetic-loci. Blood 63, 536-544.