title: Genomic organization and FISH mapping of human Pmel 17, the putative silver locus.
abstract: The Pmel 17 gene is expressed preferentially in pigment cells. It has been mapped to human chromosome 12 pter-q21 and mouse chromosome 10, near the silver locus. The Pmel 17 gene contains an insertional mutation at its carboxyl terminus in the silver mouse, suggesting that the silver locus might correspond to the gene. In the current studies, we have isolated and characterized human Pmel 17 genomic clones and employed FISH mapping for a precise localization of this gene in the human chromosome. The FISH mapping placed the Pmel 17 gene at human chromosome 12 q12-q13. The human gene consists of nine exons and eight introns, and the entire coding region of the gene spans approximately 7.9 kb of the human chromosome 12. The putative functional domains, such as the signal sequence, histidine-rich, 26-amino acid repeats, cysteinerich, transmembrane and cytoplasmic domains, were encoded by separate exons. Cistranscription elements such as a TATA, a CAT and other potential elements for pigment cell-specific gene expression were found within 1100 base pairs of the 5' flanking region.
authors: Department of Oral Microbiology, Seoul National University School of Dentistry, Korea.
authors: K K
authors: KK
authors: Kim
authors: B S
authors: BS
authors: Youn
authors: H H
authors: HH
authors: Heng
authors: X M
authors: XM
authors: Shi
authors: L C
authors: LC
authors: Tsui
authors: Z H
authors: ZH
authors: Lee
authors: R T
authors: RT
authors: Pickard
authors: B S
authors: BS
authors: Kwon
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D004247:DNA; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid; D014158:Transcription, Genetic; D058951:gp100 Melanoma Antigen
chemical_list: D008562:Membrane Glycoproteins; C548637:PMEL protein, human; C548642:Pmel protein, mouse; D011506:Proteins; D058951:gp100 Melanoma Antigen; D004247:DNA