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  • Title: Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter.
    Author: Chintamaneni CD, Ramsay M, Colman MA, Fox MF, Pickard RT, Kwon BS.
    Journal: Biochem Biophys Res Commun; 1991 Jul 15; 178(1):227-35. PubMed ID: 1906272.
    Abstract:
    Melanin biosynthesis is a multistep process with the first step being the conversion of L-tyrosine to L-Dopa catalyzed by the enzyme tyrosinase. The enzymes which catalyze the other steps of melanogenesis are not known. One murine pigmentation gene, the brown (b) locus, when mutated, leads to a brown or hypopigmented coat. The b-locus protein has been shown to display catalase activity. The human b-locus, therefore, is designated as CAS2. We used the mouse b-locus cDNA to isolate the human homologue, which in turn, was used to map the CAS2 locus to a human chromosome. The potential CAS2 protein codes for 527 amino acids containing a putative signal sequence and transmembrane domain. The CAS2 protein has primary and probably secondary structures similar to human tyrosinase. The CAS2 was mapped to human Chromosome 9 by somatic cell hybridization and, more specifically, to 9p22-pter by in situ hybridization. The assignment of CAS2 on the human Chromosome 9 extends this region of known homology on mouse Chromosome 4.
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